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Katrin Õunap

https://www.etis.ee/CV/Katrin_Õunap/est
29.07.1964
731 9490
katrin.ounap@kliinikum.ee

Teenistuskäik

Töökohad ja ametid
01.03.2022–...   
SA Tartu Ülikooli Kliinikum, Ühendlabor, kliinilise geneetika keskus, Vanemarst-õppejõud meditsiinigeneetika erialal (0,50)
01.01.2019–31.12.2023   
Tartu Ülikool, Meditsiiniteaduste valdkond, kliinilise meditsiini instituut, kliinilise geneetika professor (1,00)
01.01.2017–31.12.2018   
Tartu Ülikool, Meditsiiniteaduste valdkond, kliinilise meditsiini instituut, kliinilise geneetika professor (0,50)
01.01.2016–31.12.2016   
Tartu Ülikool, Meditsiiniteaduste valdkond, kliinilise meditsiini instituut, kliinilise geneetika professor (0,50)
01.09.2015–31.12.2015   
Tartu Ülikool, Arstiteaduskond, Lastekliinik, kliinilise geneetika professor (0,50)
01.09.2010–31.08.2015   
Tartu Ülikool, Arstiteaduskond, Lastekliinik, kliinilise geneetika professor (0,50)
01.09.2008–31.08.2010   
Tartu Ülikool, Arstiteaduskond, Lastekliinik, kliinilise geneetika dotsent (0,50)
01.01.2008–28.02.2022   
SA Tartu Ülikooli Kliinikum, ühendlabor, kliinilise geneetika keskuse juhataja (0,50)
01.09.2003–31.08.2008   
Tartu Ülikool, Arstiteaduskond, Lastekliinik, kliinilise geneetika dotsent (0,50)
01.01.1999–31.12.2007   
SA Tartu Ülikooli Kliinikum, meditsiinigeneetika ja molekulaardiagnostika keskuse pediaater-geneetik (1,00)
01.07.1996–31.12.1999   
TÜK Lastehaigla, molekulaar-diagnostika keskuse arst-geneetik; (0,25)
01.03.1990–31.12.1999   
TÜK Lastehaigla, meditsiinigeneetika keskuse pediaater-geneetik; (1,00)
10.08.1989–28.02.1990   
TÜK Lastehaigla, neuro-rehabilitatsiooni osakond, pediaater; (1,00)
01.08.1988–30.06.1989   
Tartu University Children’s Hospital, internatuur pediaatria erialal (1,00)
 
 
Haridustee
15.10.2018–14.04.2019   
Mendeleeruva Genoomika keskus, MIT ja Harwardi Ülikooli Broadi Instituut,
20.02.2017–24.02.2017   
Mendeleeruva Genoomika keskus, MIT ja Harwardi Ülikooli Broadi Instituut,
17.04.2017–21.04.2017   
Imagine Instituut, Pariis
2014–2014   
Zürichi Ülikooli Meditsiinigeneetika Instituut, Šveits (1,5 kuud)
2012–2012   
Nijmegeni Radboudi Ülikool, Kliinilise geneetika osakond (1 kuu)
2002–2002   
Dresdeni Tehnika Ülikooli Inimesegeneetika Instituudis kliinilise geneetika erialal (2 kuud);
1996–1996   
Berliini Humboldti Ülikooli Wirchowi Kliinikumi Inimesegeneetika Instituudis kliinilise geneetika erialal (1 kuu);
1996–1996   
Götebori Ülikooli Sahlgrenska Haigla kliinilise keemia osakonnas pärilike ainevahetushaiguste alal (1 kuu);
1994–1994   
Berliini Humboldti Ülikooli Wirchowi Kliinikumi Inimesegeneetika Instituudis kliinilise geneetika erialal (1 kuu);
1992–1992   
Helsinki Ülikooli Lastekliinikus kliinilise geneetika erialal (1 kuu);
1990–1990   
Venemaa Pediaatria ja Lastekirurgia Instituudis kliinilise geneetika erialal (1 kuu);
1988–1989   
Diplomijärgne erialane koolitus:
1982–1988   
Tartu Ülikool, arstiteaduskond, pediaatria eriala 1988;
 
 
Teadusorganisatsiooniline ja -administratiivne tegevus
2019−...   
Euroopa Inimesegeneetika Ühingu EuroGenetest kvaliteedi subkomitee liige
2014−...   
Pärilike ainevahetushaiguste Euroopa välise kvaliteedi kontrolli organisatsiooni (ERNDIM) nõukogu president
Eesti Arstide liidu, Eesti Lastearstide Seltsi, Eesti Inimesegeneetika Ühingu, Eesti Fenüülketonuuria Ühingu, Euroopa Inimesegeneetika Ühingu ja Rahvusvahelise Ainevahetushaiguste Assotsiatsiooni liige
2014−2020   
Euroopa Ainevahetushaiguste Assotsiatsiooni nõukogu liige
2014−2018   
Eesti meditsiinigeneetika seltsi president
2011−2014   
Pärilike ainevahetushaiguste Euroopa välise kvaliteedi kontrolli organisatsiooni (ERNDIM) nõukogu liige
2007−2014   
Balti metaboolse grupi president
2006−2007   
Eesti Inimesegeneetika Ühingu juhatuse liige
1999−2001   
Eesti Inimesegeneetika Ühingu president;
1996−2001   
Tartu Pediaatria Seltsi juhatuse liige;
 
 
Loometöö
Olen 1994.a. alates aktiivselt seotud pärilike ainevahetushaigustega patsientide tugiliidu tegevusega.

Kvalifikatsioon

Teaduskraadid
Katrin Õunap, doktorikraad, 1999, (juh) Mari Sitska; Tiina Talvik, Phenylketonuria in Estonia: incidence, newborn screening, diagnosis, clinial characterization and genotype/phenotype correlation (Fenüülketonuuria Eestis: esinemissagedus, vastsündinute sõeltestimine, diagnostika, haigete kliinilise pildi iseloomustamine ja võrdlemine haigete genotüübiga), Tartu Ülikool.
 
 
Teaduspreemiad ja tunnustused
2020, Katrin Õunap, SA TÜ Kliinikumi Neinar Seli stipendium 2019 aasta teaduspublikatsioonide eest
2019, Katrin Õunap, SA TÜ Kliinikumi Neinar Seli stipendium 2018 aasta teaduspublikatsioonide eest
2017, Katrin Õunap, SA TÜ Kliinikumi Neinar Seli stipendium viie aasta teaduspublikatsioonide eest
2015, Katrin Õunap, SA TÜ Kliinikumi Neinar Seli stipendium 2014 aasta teaduspublikatsioonide eest
2015, Katrin Õunap, SA Tartu Ülikooli Kliinikumi teadustöö preemia: teema "Üle-eestiline laiendatud vastsündinute skriining", autorid K. Reinson, K. Künnapas, A. Kriisa, M.-A. Vals, K. Muru, K. Õunap
2014, Katrin Õunap, Tartu Ülikool, väike medal
2013, Katrin Õunap, SA TÜ Kliinikumi Neinar Seli stipendium 2012 aasta teaduspublikatsioonide eest
2011, Katrin Õunap, SA TÜ Kliinikumi Neinar Seli stipendium viie aasta teaduspublikatsioonide eest
2010, Katrin Õunap, SA Tartu Ülikooli Kliinikumi teadustöö preemia, teema "Pika ahelaga hüdroksü-atsetüül-CoA dehüdrogenaasi defitsiidi esinemine Eestis", autorid K. Joost, T. Kahre, K. Kilk, M.-L. Uudelepp, U. Soomets ja K. Õunap
1996, Katrin Õunap, Liisa Kolumbuse Mälestusfondi stipendium
1996, Katrin Õunap, Saksa-Balti Arstide Seltsi stipendium
1994, Katrin Õunap, Saksa-Balti Arstide Seltsi stipendium
 
 
Teadustöö põhisuunad
ETIS KLASSIFIKAATOR: 3. Terviseuuringud; 3.7. Kliiniline meditsiin; TÄPSUSTUS: Kliiniline geneetika
 
 
Lisainfo
MeditsiinidoktorTartu Ülikool, 1999

Jooksvad projektid

Lõppenud projektid

Juhendamisel väitekirjad

Juhendatud väitekirjad

Publikatsioonid

Klass
Aasta
Publikatsioon
 
1.1.
2022
Siiri Sarv, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Kai Muru, Haide Põder, Katrin Gross-Paju, Sandra Ütt, Riina Zordania, Inga Talvik, Eve Õiglane-Shlik, Kristina Muhu and Katrin Õunap (2022). The birth prevalence of spinal muscular atrophy: a population specific approach in Estonia. Frontiers in Genetics [ilmumas].
1.1.
2021
David B. Beck, Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela T. Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D’Souza, Joann Bodurtha, Weiyi Mu, Kristin W. Barañano, Noriko Miyake, Raymond Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, Tomoki Kosho, Ryan Dale, Apratim Mitra, Ellen Macnamara, Undiagnosed Diseases Network, Naomichi Matsumoto, Johji Inazawa, Magdalena Walkiewicz, Katrin Õunap, Cynthia J. Tifft, Ivona Aksentijevich, Daniel L. Kastner, Pedro P. Rocha, and Achim Werner (2021). Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Science Advances, 7 (4). DOI: 10.1126/sciadv.abe2116.
1.1.
2021
Monika Olahova, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen Sommerville, Emma Blakely, Jack Collier, Emily Hoberg, Viktor Stranecky, Hana Hartmannova, Anthony Bleyer, Kim McBride, Sasigarn Bowden, Zuzana Korandova, Alena Pecinova, Hans Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark Tarnopolsky, Lauren Brady, K Weaver, Carlos Prada, Katrin Ounap, Monica Wojcik, Sander Pajusalu, Safoora Syeda, Lynn Pais, Elicia Estrella, Christine Bruels, Louis Kunkel, Peter Kang, Penelope Bonnen, Tomas Mracek, Stanislav Kmoch, Grainne Gorman, Maria Falkenberg, Claes Gustafsson, and Robert Taylor (2021). POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature Communications, 12, 1135. DOI: 10.1038/s41467-021-21279-0.
1.1.
2021
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. (2021). Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Genetics in Medicine, 23 (8), 1474−1483. DOI: 10.1038/s41436-021-01158-1.
1.1.
2021
De La Vega, F.M.; Chowdhury, S.; Moore, B.; Frise, E.; McCarthy, J.; Hernandez, E.J.; Wong, T.; James, K.; Guidugli, L.; Agrawal, P.B.; Genetti, C.A.; Brownstein, C.A.; Beggs, A.H.; Löscher, B.S.; Franke, A.; Boone, B.; Levy, S.E.; Õunap, K.; Pajusalu, S.; Huentelman, M. ... Kingsmore, S.F. (2021). Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Medicine, 13 (1). DOI: 10.1186/s13073-021-00965-0.
1.1.
2021
van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ; Study Group on Missed PKU and Missed to Follow-Up: K Ahring, F Al Mutairi, J B Arnoux, D Ballhausen, J Baruteau, L Bernstein, S Bijarnia-Mahay, F Boemer, A Bordugo, L Brodosi, S Brooks, H B Chew, K Chyz, M Coker, C Collingwood, V Cornejo, M L Couce, A Cozens, S Dahri, A M Das, C de Laet, J de Las Heras Montero, A de Vreugd, F G Debray, M Dercksen, M Descartes, L Diogo, E Drogari, H Eiroa, F T Eminoglu, G M Enns, F Eyskens, F Feillet, S Ford, L Franzson, P Freisinger, P Garcia, O Grafakou, G Gramer, S Gray, U Groselj, S C Grünert, D Haas, B Handoom, T B Harte, C Hendriksz, R S Heredia, J Hertecant, T Hoi-Yee Wu, A Inwood, S S Jamuar, P Jesina, J J Jonsson, A Jovanovic, I Kern, S Kilavuz, I Knerr, D Kor, D Korycinska-Chaaban, M Kreile, B Kumru, B Lanpher, R Lapatto, C Lavigne, E Leao-Teles, V Leuzzi, N Longo, A Lopez-Uriarte, C M A Lubout, A MacDonald, E M Megdad, J Mitchell, F Mochel, P J Moreno-Lozano, A Morris, C F Moura de Souza, T Munoz, P I Nevalainen, M Oscarson, K Õunap, S Paci, G M Pastores, P L Pearl, F B Piazzon, J Pitt, G Poon, F Porta, N Presner, A A Rabaty, K Reinson, P Reismann, T Rink, J C Rocha, E Rodrigues, A G Saini, A Sanchez-Valle, J Sander, P Sarkhail, I V D Schwartz, R Sharma, B Sheng, K Siriwardena, S Sirrs, D R Sjarif, N Sondheimer, R Sparkes, N Specola, K M Stepien, I Szatmari, M Tchan, T Tkemaladze, C Tran, M G Valle, M Vela-Amieva, M L Verdaguer, S A Vergano, P Vermeersch, R Vulturar, M A E M Wagenmakers, N Weinhold, A B Williams, W G Wilson, D Zafeiriou, H Zhang, A Ziagaki, J Zolkowska. (2021). Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey. The Journal of Pediatrics, Dec (239), 231−234. DOI: 10.1016/j.jpeds.2021.08.070.
1.3.
2021
Laura Mihkla, Katrin Õunap (2021). Arengu hilinemisega lapse uurimine meditsiinigeneetiku vaatevinklist. Eesti Arst, 100 (12), 684−691.
1.3.
2021
Konstantin Ridnõi, Kai Muru, Eva-Liina Ustav, Pille Tammur, Triin Mölter-Väär, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap (2021). Loote kromosoomhaiguste esimese trimestri sõeluuringu tulemused Eestis kahe aasta jooksul. Eesti Arst, 100 (12), 674−679. DOI: 10.15157/ea.vi.18489.
5.1.
2021
K. Ounap, K. Reinson, K. T. Oja, E. G. Seaby, M. H. Wojcik, A. O’Donnell-Luria, B. M. Wittmann, A. D. Kennedy, C. Zweier, G. Vasileiou, G. N. Wilson, I. A. Alkhawaja, R. L. Sanchez Russo, T. Wirth, S. Syrbe, K. Platzer, S. Alyamani, F. Alkuraya, S. Pajusalu (2021). Mono- and bi-allelic variation of ABCA2 in individuals with different neurodevelopmental disorders. ASHG virtual meeting October 18-22, 2021. Cell press.
5.1.
2021
Kristi Rähn, Kai Muru, Sander Pajusalu, Eve Õiglane-Šlik, Katrin Õunap (2021). STAG1 gene heterozygous de novo variant in a patient with Angelman syndrome like phenotype. ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.1.
2021
Sanna Puusepp, Tiia Reimand, Chris Pruunsild, Nina Powell-Hamilton, Kari Magnussen, George Anadiotis, Katrin Õunap (2021). TNRC6A is a candidate gene for a phenotype with multisystem involvement. ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.1.
2021
Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert-Johnson, Sarah Mantia-Macklin, Kai Muru, Tiina Kahre, Katrin Õunap (2021). Phenotype of six families with AXIN2-oligodontia-colorectal cancer syndrome. Cleft palate as a new feature of this syndrome? ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.1.
2021
Sander Pajusalu, Sanna Puusepp, Karit Reinson, Kai Muru, Tiia Reimand, Monica H. Wojcik, Anne O'Donnell-Luria, Katrin Õunap (2021). Detection of mtDNA variants from short-read genome sequencing data: analysis of 55 families from a rare disease cohort. ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.1.
2021
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. M. Innes, Connie Stumpel, Katrin Ounap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine Zackai, Sarah Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Birgitta Bernhard, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra (2021). A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.2.
2021
Paula-Johanna Viilop, Piret Ilisson, Olga Fjodorova, Pille Tammur, Tiia Reimand, Katrin Õunap (2021). Submikroskoopilisel kromosoomianalüüsil tuvastatud sagedasemad mikrodeletsioonid ja -duplikatsioonid Eesti lastel ajavahemikul 2011–2020. Eesti Arst, 100: Tartu Ülikooli arstiteaduskonna aastapäeva teaduskonverents 2021. OÜ Celsius Healthcare, 27. (Lisa 1).
5.2.
2021
Pajusalu, S.; Vals, M.-A.; Mihkla, L.; Šamarina, U.; Kahre, T.; Õunap, K. (2021). Estimated prevalence of congenital disorders of N-glycosylation across different populations based on allele frequencies in general population databases. SCIENTIFIC CDG SYMPOSIUM, VIRTUAL SYMPOSIUM 23-24 JUNE 2021. KU Leuven.
1.1.
2020
Pravata, Veronica M.; Gundogdu, Mehmet; Bartual, Sergio G.; Ferenbach, Andrew T.; Stavridis, Marios; Ounap, Katrin; Pajusalu, Sander; Zordania, Riina; Wojcik, Monica H.; van Aalten, Daan M. F. (2020). A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Letters, 594 (4), 717−727. DOI: 10.1002/1873-3468.13640.
1.1.
2020
Beck, David B; Petracovici, Ana; He, Chongsheng; Moore, Hannah W; Louie, Raymond J; Ansar, Muhammad; Douzgou, Sofia; Sithambaram, Sivagamy; Cottrell, Trudie; Santos-Cortez, Regie Lyn P; Prijoles, Eloise J; Bend, Renee; Keren, Boris; Mignot, Cyril; Nougues, Marie-Christine; Õunap, Katrin; Reimand, Tiia; Pajusalu, Sander; Zahid, Muhammad; Saqib, Muhammad Arif Nadeem ... Fahrner, Jill A (2020). Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. The American Journal of Human Genetics, 106 (2), 234−245. DOI: 10.1016/j.ajhg.2019.12.007.
1.1.
2020
Lillevali, Hardo; Pajusalu, Sander; Wojcik, Monica H.; Goodrich, Julia; Collins, Ryan L.; Murumets, Ulle; Tammur, Pille; Blau, Nenad; Lillevali, Kersti; Ounap, Katrin (2020). Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Molecular Genetics & Genomic Medicine, ARTN e1154. DOI: 10.1002/mgg3.1154.
1.1.
2020
Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, Kooy RF, Dallapiccola B, Sadikovic B, Tartaglia M. (2020). Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. Clinical Epigenetics, 12 (1), 7−7. DOI: 10.1186/s13148-019-0804-0.
1.1.
2020
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. (2020). De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European Journal of Human Genetics. DOI: 10.1038/s41431-020-0571-6.
1.1.
2020
Pravata VM, Omelková M, Stavridis MP, Desbiens CM, Stephen HM, Lefeber DJ, Gecz J, Gundogdu M, Õunap K, Joss S, Schwartz CE, Wells L, van Aalten DMF. (2020). An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. European Journal of Human Genetics. DOI: 10.1038/s41431-020-0589-9.
1.1.
2020
Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. (2020). Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genetics in Medicine. DOI: 10.1038/s41436-020-0767-8.
1.1.
2020
Woldegebriel R, Kvist J, Andersson N, Õunap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard MH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bönnemann CG, Maroofian R, O'Connor E, Houlden H, Zhao F, Carpén O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H. (2020). Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Human Molecular Genetics. DOI: 10.1093/hmg/ddaa051.
1.1.
2020
Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP. (2020). Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. American Journal of Medical Genetics Part A. DOI: 10.1002/ajmg.a.61907.
1.1.
2020
Reinson, Karit; Õunap, Katrin. (2020). Complex I deficiency and Leigh syndrome through the eyes of a clinician. EMBO Molecular Medicine, 12 (11), e13187.
1.1.
2020
Puusepp S, Reinson K, Pajusalu S, van Kuilenburg ABP, Dobritzsch D, Roelofsen J, Stenzel W, Õunap K. (2020). Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene. Molecular Genetics and Metabolism Reports, 25, 100677.
1.1.
2020
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. (2020). Monogenic variants in dystonia: an exome-wide sequencing study. The Lancet Neurology, 11, 908−918.
1.1.
2020
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. (2020). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine.
1.1.
2020
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study, Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. (2020). Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Science Advances, 6 (49), eabc9207.
1.1.
2020
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. (2020). Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American Journal of Medical Genetics Part A.
1.1.
2020
Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. (2020). Regulatory landscape of providing information on newborn screening to parents across Europe. European Journal of Human Genetics.
1.1.
2020
Õunap, Katrin; Muru, Kai; Õiglane-Shlik, Eve; Ilves, Pilvi; Pajusalu, Sander; Kuus, Imbi; Wojcik, Monica H; Reimand, Tiia (2020). PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. European Journal of Medical Genetics, 63 (2), 103660. DOI: 10.1016/j.ejmg.2019.04.017.
1.3.
2020
Elis Tiivoja, Kai Muru, Pille Kool, Karit Reinson, Kristi Rähn, Katrin Õunap (2020). Pärilike ainevahetushaiguste diagnoosimise kokkuvõte ajavahemikul 1990–2017 TÜ Kliinikumi ühendlabori kliinilise geneetika keskuses. Eesti Arst, 99 (9), 537−545.
5.1.
2020
Konstantin Ridnõi, Kai Muru, Maria Keernik, Sander Pajusalu, Eva-Liina Ustav, Pille Tammur, Triin Mölter-Väär, Tiina Kahre, Ustina Šamarina, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap (2020). Prenatal diagnostics in Estonia: a 2-year prospective study assessing the performance of combined first-trimester screening, chromosomal microarray analysis, and next-generation sequencing. European Journal of Human Genetics, 28. Nature Publishing Group.
5.1.
2020
Katrin Õunap, Kaisa Teele Oja, Karit Reinson, Kai Muru, Tiia Reimand, Eleina M. England, Anne O’Donnell-Luria, Bryan M. Wittmann, Adam D. Kennedy, Sander Pajusalu (2020). The implementation of untargeted metabolomic analysis for the identification of new Mendelian disorders. American Journal of Human Genetics. Cell press.
5.1.
2020
Puusepp, S., Reinson, K., Pajusalu, S., van Kuilenburg, A. B. P., Dobritzsch, D., Stenzel, W., Õunap, K. (2020). A novel hemizygous loss-of-function variant in the PRPS1 gene found in a patient with features of Arts syndrome, but without hearing loss and normal levels of purine/ pyrimidine metabolites. European Journal of Human Genetics, 28. Nature Publishing Group.
5.1.
2020
Laura Roht, Sander Pajusalu, Ustina Šamarina, Tiina Kahre, Katrin Õunap (2020). The prevalence of MMR gene mutations in Estonian general population. European Journal of Human Genetics, 28. Nature Publishing Group.
5.1.
2020
Anaïs Begemann, Heinrich Sticht, Kirsty McWalter, Antonio Vitobello, Laurence Faivre, Bader Alhaddad, Siddharth Banka, Jessica Becker, Tatjana Bierhals, Kathleen Brown, Ange-Line Bruel, Theresa Brunet, Maryline Carneiro, Kirsten Cremer, Robert Day, Anne-Sophie Denommé-Pichon, Dave A. Dyment, Hartmut Engels, Rachel Fisher, Megan Glassford, Elaine S. Goh, MJ Hajianpour, Lucia Ribeiro Machado Haertel, Nadine Hauer, Maja Hempel, Theresia Herget, Cornelia Kraus, Gwenaël Le Guyader, Gaetan Lesca, Frédéric Tran Mau-Them, John Henry McDermott, Pierre Meyer, Katrin Õunap, Bernt Popp, Tiia Reimand, Korbinian M. Riedhammer, Martina Russo, Lynette Sadleir, Elisabeth Schuler, Gabriele Siegel, Steffen Syrbe, Amelie Theresa Van der Ven, Alain Verloes, Marjolaine Willems, Christiane Zweier, Katharina Steindl, Markus Zweier, Anita Rauch (2020). Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics. European Journal of Human Genetics, 28. Nature Publishing Group.
5.1.
2020
A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace, E. Miele, J. Kerkhof, E. Flex, S. Martinelli, F.C. Radio, C.A.L. Ruivenkamp, G.W.E. Santen, E. Bijlsma, D. Barge-Schaapveld, K. Õunap, V. Mok Siu, R.F. Kooy, B. Dallapiccola, B. Sadikovic, M. Tartaglia (2020). Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. European Journal of Human Genetics, 28. Nature Publishing Group.
5.2.
2020
Kaisa Teele Oja, Karit Reinson, Kai Muru, Tiia Reimand, Eleina England, Monica Wojcik, Anne O’Donnell-Luria, Bryan M. Wittmann, Adam D. Kennedy, Sander Pajusalu, Katrin Õunap (2020). Sihtmärgistamata metaboloomika analüüsi rakendamine uute pärilike monogeensete haiguste avastamiseks. Eesti Arst, 99. OÜ Celsius Healthcare, 16. (Lisa 2).
5.2.
2020
Laura Roht, Sander Pajusalu, Ustina Šamarina, Tiina Kahre, Jaan Soplepmann, Katrin Õunap (2020). MMR haigusseoseliste geenivariantide levimus Eesti üldpopulatsioonis. Eesti Arst, 99. OÜ Celsius Healthcare, 21. (Lisa 2).
5.2.
2020
Sandra Coppens, Sanna Puusepp, Katrin Õunap, Alison Barnard, Sandra Donkervoort, Reza Maroofian, Henry Houlden, Nicolas Deconinck, Fowzan Alkuraya, Hessa Alsaif, Erica Macke, Anna Lusakowska, Andreas Hahn, Volker Straub, Ana Töpf, Catheline Vilain, Marie Rivera-Zengotita, Carsten Bönnemann, Glenn Walter, Peter Kang (2020). A novel form of muscular dystrophy associated with mutations in JAG2. World Muscle Society Virtual Congress 28.09-02.10.2020. https://www.wms2020.com/: WMS Congress Ltd.
5.2.
2020
Puusepp, S., Reimand, T., Pajusalu, S., Bruels, C. C., Bönnemann, C. G., Chao, K. R., Coppens, S., Donkervoort, S., Goodrich, J. K., Kang, P. B., Mohassel, P., Pais, L. S., Siddique, T., Vargas-Franco D., Wojcik, M.H., Stenzel, W., Õunap, K. (2020). Progressive proximal muscle weakness, myopathic muscle biopsy and a novel candidate gene. World Muscle Society Virtual Congress 28.09-02.10.2020. https://www.wms2020.com/: WMS Congress Ltd.
1.1.
2019
Reinson, Karit; Kovacs-Nagy, Reka; Õiglane-Shlik, Eve; Pajusalu, Sander; Nõukas, Margit; Wintjes, Liesbeth T; van den Brandt, Frans C A; Brink, Maaike; Acker, Till; Ahting, Uwe; Hahn, Andreas; Schänzer, Anne; Haack, Tobias B; Rodenburg, Richard J; Õunap, Katrin (2019). Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. European Journal of Medical Genetics, 62 (11), UNSP 103572−103572. DOI: 10.1016/j.ejmg.2018.11.006.
1.1.
2019
Zweier, M.; Begemann, A.; McWalter, K.; Cho, M.T.; Abela, L.; Banka, S.; Behring, B.; Berger, A.; Brown, C.; Carneiro, M.; Chen, J.; Cooper, G.M.; Deciphering Developmental Disorders (DDD) Study, Finnila, C.R.; Guillen Sacoto, M.J.; Henderson, A.; Hüffmeier, U.; Joset, P.; Kerr, B.; Lesca, G.; Leszinski, G.S. ... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European Journal of Human Genetics. DOI: 10.1038/s41431-018-0331-z.
1.1.
2019
Vals, M.-A.; Ashikov, A.; Ilves, P.; Loorits, D.; Zeng, Q.; Barone, R.; Huijben, K.; Sykut-Cegielska, J.; Diogo, L.; Elias, A.F.; Greenwood, R.S.; Grunewald, S.; van Hasselt, P.M.; van de Kamp, J.M.; Mancini, G.; Okninska, A.; Pajusalu, S.; Rudd, P.M.; Rustad, C.F.; Salvarinova, R. ... Õunap, K. (2019). Clinical, neuroradiological and biochemical features of SLC35A2-CDG patients. Journal of Inherited Metabolic Disease, 42 (3), 553−564. DOI: 10.1002/jimd.12055.
1.1.
2019
Ridnõi, K.; Šois, M.; Vaidla, E.; Pajusalu, S.; Kelder, L.; Reimand, T.; Õunap, K. (2019). A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Molecular Genetics & Genomic Medicine, 7 (5), UNSP e614. DOI: 10.1002/mgg3.614.
1.1.
2019
Lilleväli, Hardo; Reinson, Karit; Muru, Kai; Saarsalu, Siret; Künnapas, Kadi; Kahre, Tiina; Murumets, Ülle; Õunap, Katrin (2019). The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records. Molecular Genetics and Metabolism Reports, 19, 100467. DOI: 10.1016/j.ymgmr.2019.100467.
1.1.
2019
Muru, Kai; Reinson, Karit; Künnapas, Kadi; Lilleväli, Hardo; Nochi, Zahra; Mosegaard, Signe; Pajusalu, Sander; Olsen, Rikke K J; Õunap, Katrin (2019). FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Molecular Genetics & Genomic Medicine, 7 (9), e915−e915. DOI: 10.1002/mgg3.915.
1.1.
2019
Yakoreva, Maria; Kahre, Tiina; Žordania, Riina; Reinson, Karit; Teek, Rita; Tillmann, Vallo; Peet, Aleksandr; Õiglane-Shlik, Eve; Pajusalu, Sander; Murumets, Ülle; Vals, Mari-Anne; Mee, Pille; Wojcik, Monica H; Õunap, Katrin (2019). A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. European Journal of Human Genetics, 27 (11), 1649−1658. DOI: 10.1038/s41431-019-0446-x.
1.1.
2019
Konrad, Enrico D H; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E; Õunap, Katrin; Pajusalu, Sander; Wojcik, Monica H; Vasileiou, Georgia; Le Guyader, Gwenaël ... Zweier, Christiane (2019). CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genetics in Medicine. DOI: 10.1038/s41436-019-0585-z.
1.1.
2019
Altassan, R.; Péanne, R.; Jaeken, J.; Barone, R.; Bidet, M.; Borgel, D.; Brasil, S.; Cassiman, D.; Cechova, A.; Coman, D.; Corral, J.; Correia, J.; de la Morena-Barrio, M.E.; de Lonlay, P.; Dos Reis, V.; Ferreira, C.R.; Fiumara, A.; Francisco, R.; Freeze, H.; Funke, S. ... Morava, E. (2019). International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. Journal of Inherited Metabolic Disease, 42 (1), 5−28. DOI: 10.1002/jimd.12024.
1.1.
2019
Flex, Elisabetta; Martinelli, Simone; Van Dijck, Anke; Ciolfi, Andrea; Cecchetti, Serena; Coluzzi, Elisa; Pannone, Luca; Andreoli, Cristina; Radio, Francesca Clementina; Pizzi, Simone; Carpentieri, Giovanna; Bruselles, Alessandro; Catanzaro, Giuseppina; Pedace, Lucia; Miele, Evelina; Carcarino, Elena; Ge, Xiaoyan; Chijiwa, Chieko; Lewis, Me Suzanne; Meuwissen, Marije ... Tartaglia, Marco (2019). Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. The American Journal of Human Genetics, 105 (3), 493−508. DOI: 10.1016/j.ajhg.2019.07.007.
1.1.
2019
Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S; DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE. (2019). De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. The American Journal of Human Genetics, 105 (2), 403−412. DOI: 10.1016/j.ajhg.2019.06.007.
1.1.
2019
Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Õunap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M. (2019). Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. The American Journal of Human Genetics, 104 (5), 957−967. DOI: 10.1016/j.ajhg.2019.03.006.
1.1.
2019
Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT. (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet Journal of Rare Diseases, 14 (1), 86. DOI: 10.1186/s13023-019-1047-z.
1.2.
2019
Ilves N, Ilves P, Õunap K, Laugesaar R, Loorits D, Lintrop M, Männamaa M, Metsvaht T. (2019). Periventricular Venous Infarction in an Extremely Premature Infant as the Cause of Schizencephaly. Journal of Pediatric Neurology. DOI: 10.1055/s-0039-1697040.
1.3.
2019
Pajusalu, Sander; Õunap, Katrin (2019). Geneetika kliinilises meditsiinis nüüd ja tulevikus. Eesti Arst, 98 (5), 270−276.
1.3.
2019
Õunap K. (2019). Klassikalise galaktoseemia kliiniline ravijuhend: diagnoosimine, ravi ja jälgimine. Eesti Arst, 98 (5), 298−301.
5.2.
2019
Tiivoja, E.; Reinson, K.; Muru, K.; Lilleväli, H.; Künnapas, K.; Rähn, K.; Õunap, K. (2019). Diagnoositud pärilike ainevahetushaiguste kokkuvõte Tartu Ülikooli Kliinikumi ühendlabori kliinilise geneetika keskuses. Eesti Arst, 98: Arstiteaduskonna aastapäev 2019, Tartu 10-11.10.2019. OÜ Celsius Healthcare, 14−14. (Lisa 3).
5.2.
2019
Õunap, Katrin; Muru, Kai; Künnapas, Kadi; Lilleväli, Hardo; Pajusalu, Sander; Olsen, Rikke K.J.; Reinson, Karit. (2019). The First Case of FLAD1 Associated Multiple Acyl-CoA Dehydrogenace Deficiency Identified by Newborn Screening. https://www.acmgmeeting.net/acmg2019/Public/Content.aspx?ID=2993&sortMenu=104000: ACMG Annual Clinical genetics meeting, Seattle USA, 2-6 aprill 2019. ACMG.
1.1.
2018
Pajusalu S, Kahre T, Roomere H, Murumets Ü, Roht L, Simenson K, Reimand T, Õunap K. (2018). Large Gene Panel Sequencing in Clinical Diagnostics - Results from 501 Consecutive Cases. Clinical Genetics, 93 (1), 78−83. DOI: 10.1111/cge.13031.
1.1.
2018
Brioude, F.; Kalish, J.M.; Mussa, A.; Foster, A.C.; Bliek, J.; Ferrero, G.B.; Boonen, S.E.; Cole, T.; Baker, R.; Bertoletti, M.; Cocchi, G.; Coze, C.; De Pellegrin, M.; Hussain, K.; Ibrahim, A.; Kilby, M.D.; Krajewska-Walasek, M.; Kratz, C.P.; Ladusans, E.J.; Lapunzina, P. ... Maher, E.R. (2018). Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nature Reviews Endocrinology, 14 (4), 229−249. DOI: 10.1038/nrendo.2017.166.
1.1.
2018
Hallas, T.; Eisen, B.; Shemer, Y.; Ben Jehuda, R.; Mekies, L.N.; Naor, S.; Schick, R.; Eliyahu, S.; Reiter, I.; Vlodavsky, E.; Katz, Y.S.; Õunap, K.; Lorber, A.; Rodenburg, R.; Mandel, H.; Gherghiceanu, M.; Binah, O. (2018). Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes. Journal of Cellular and Molecular Medicine, 22 (2), 913−925. DOI: 10.1111/jcmm.13392.
1.1.
2018
Puusepp, S.; Kovacs-Nagy, R.; Alhaddad, B.; Braunisch, M.; Hoffmann, G.F.; Kotzaeridou, U.; Lichvarova, L.; Liiv, M.; Makowski, C.; Mandel, M.; Meitinger, T.; Pajusalu, S.; Rodenburg, R.J.; Safiulina, D.; Strom, T.M.; Talvik, I.; Vaarmann, A.; Wilson, C.; Kaasik, A.; Haack, T.B. ... Õunap, K. (2018). Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. European Journal of Human Genetics, 407−419. DOI: 10.1038/s41431-017-0001-6.
1.1.
2018
Yakoreva, Maria; Kahre, Tiina; Pajusalu, Sander; Ilisson, Piret; Zilina, Olga; Tillmann, Vallo; Reimand, Tiia; Ounap, Katrin (2018). A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. Molecular Syndromology, 9 (4), 182−189. DOI: 10.1159/000489446.
1.1.
2018
Guissart, C.; Latypova, X.; Rollier, P.; Khan, T.N.; Stamberger, H.; McWalter, K.; Cho, M.T.; Kjaergaard, S.; Weckhuysen, S.; Lesca, G.; Besnard, T.; Õunap, K.; Schema, L.; Chiocchetti, A.G.; McDonald, M.; de Bellescize, J.; Vincent, M.; Van Esch, H.; Sattler, S.; Forghani, I. ... Küry, S. (2018). Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. The American Journal of Human Genetics, x−x. DOI: 10.1016/j.ajhg.2018.02.021.
1.1.
2018
Ridnõi, K.; Kurvinen, E.; Pajusalu, S.; Reimand, T.; Õunap, K. (2018). Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. Molecular Syndromology, 9 (4), 205−213. DOI: 10.1159/000490083.
1.1.
2018
Veri, K; Talvik, I; Vaher, U; Napa, A; Ilves, P; Uibo, O; Õiglane-Slik, E; Laugesaar, R; Rein, R; Kolk, A; Noormets, K; Reimand, T; Õunap, K; Talvik T. (2018). Incidence of Childhood Epilepsy in Estonia. Journal of Child Neurology, 33 (9), 587−592. DOI: 10.1177/0883073818776760.
1.1.
2018
Zagaglia, S.; Selch, C.; Nisevic, J.R.; Mei, D.; Michalak, Z.; Hernandez-Hernandez, L.; Krithika, S.; Vezyroglou, K.; Varadkar, S.M.; Pepler, A.; Biskup, S.; Leão, M.; Gärtner, J.; Merkenschlager, A.; Jaksch, M.; Møller, R.S.; Gardella, E.; Kristiansen, B.S.; Hansen, L.K.; Vari, M.S. ... Sisodiya, S.M. (2018). Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology, 91 (22), E2078−E2088. DOI: 10.1212/WNL.0000000000006567.
1.1.
2018
Basilicata, M.F.; Bruel, A.L.; Semplicio, G.; Valsecchi, C.I.K.; Aktaş, T.; Duffourd, Y.; Rumpf, T.; Morton, J.; Bache, I.; Szymanski, W.G.; Gilissen, C.; Vanakker, O.; Õunap, K.; Mittler, G.; van der Burgt, I.; El Chehadeh, S.; Cho, M.T.; Pfundt, R.; Tan, T.Y.; Kirchhoff, M. ... Akhtar, A. (2018). De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics, 50 (10), 1442−1451. DOI: 10.1038/s41588-018-0220-y.
1.1.
2018
van Vliet, D.; van Wegberg, A.M.J.; Ahring, K.; Bik-Multanowski, M.; Blau, N.; Bulut, F.D.; Casas, K.; Didycz, B.; Djordjevic, M.; Federico, A.; Feillet, F.; Gizewska, M.; Gramer, G.; Hertecant, J.L.; Hollak, C.E.M.; Jørgensen, J.V.; Karall, D.; Landau, Y.; Leuzzi, V.; Mathisen, P. ... van Spronsen, F.J. (2018). Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet Journal of Rare Diseases, 13 (1), 149. DOI: 10.1186/s13023-018-0890-7.
1.1.
2018
Bruun, T.U.J.; Sidky, S.; Bandeira, A.O.; Debray, F.G.; Ficicioglu, C.; Goldstein, J.; Joost, K.; Koeberl, D.D.; Luísa, D.; Nassogne, M.C.; O'Sullivan, S.; Õunap, K.; Schulze, A.; van Maldergem, L.; Salomons, G.S.; Mercimek-Andrews, S. (2018). Treatment outcome of creatine transporter deficiency: international retrospective cohort study. Metabolic Brain Disease, 33 (3), 875−884. DOI: 10.1007/s11011-018-0197-3.
1.1.
2018
Puusepp, Sanna; Reinson, Karit; Pajusalu, Sander; Murumets, Ülle; Õiglane-Shlik, Eve; Rein, Reet; Talvik, Inga; Rodenburg, Richard J; Õunap, Katrin (2018). Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia. Molecular Genetics and Metabolism Reports, 15, 80−89. DOI: 10.1016/j.ymgmr.2018.03.004.
1.1.
2018
Reinson, Karit; Künnapas, Kadi; Kriisa, Annika; Vals, Mari-Anne; Muru, Kai; Õunap, Katrin (2018). High incidence of low vitamin B12 levels in Estonian newborns. Molecular Genetics and Metabolism Reports, 15, 1−5. DOI: 10.1016/j.ymgmr.2017.11.002.
3.1.
2018
Vals, Mari-Anne; Pajusalu, Sander; Kals, Mart; Magi, Reedik; Ounap, Katrin (2018). The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients. In: JIMD REPORTS, VOL 39 (13−17). 06.07.2017 BERLIN: SPRINGER-VERLAG BERLIN. (39). DOI: 10.1007/8904_2017_41.
3.1.
2018
Lilleväli H.; Reinson K.; Muru K.; Simenson K.; Murumets Ü.; Möls T.; Õunap K. (2018). Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening. In: JIMD REPORTS, VOL 40 (39−45). BERLIN: SPRINGER-VERLAG BERLIN. (40). DOI: 10.1007/8904_2017_61.
1.1.
2017
Welling, L.; Bernstein, L.E.; Berry, G.T.; Burlina, A.B.; Eyskens, F.; Gautschi, M.; Grünewald, S.; Gubbels, C.S.; Knerr, I.; Labrune, P.; van der Lee, J.H.; MacDonald, A.; Murphy, E.; Portnoi, P.A.; Õunap, K.; Potter, N.L.; Rubio-Gozalbo, M.E.; Spencer, J.B.; Timmers, I.; Treacy, E.P. ... Galactosemia, Network. (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of Inherited Metabolic Disease, 40 (2), 171−176. DOI: 10.1007/s10545-016-9990-5.
1.1.
2017
Vals,M.-A.; Morava, E.; Teeäär, K.; Žordania, R.; Pajusalu, S.; Lefeber, D.; Õunap, K. (2017). Three families with mild PMM2-CDG and normal cognitive development. American Journal of Medical Genetics Part A, 173 (6), 1620−1624. DOI: 10.1002/ajmg.a.38235.
1.1.
2017
van Erven, B.; Berry, G.T.; Cassiman, D.; Connolly, G.; Forga, M.; Gautschi, M.; Gubbels, C.S.; Hollak, C.E.M.; Janssen, M.C.; Knerr, I.; Labrune, P.; Langendonk, J.G.; Õunap, K.; Thijs, A.; Vos, R.; Wortmann, S.B.; Rubio-Gozalbo, M.E. (2017). Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertility and Sterility, 108 (1), 168−174. DOI: 10.1016/j.fertnstert.2017.05.013.
1.1.
2017
Pronicka, E.; Ropacka-Lesiak, M.; Trubicka, J.; Pajdowska, M.; Linke, M.; Ostergaard, E.; Saunders, C.; Horsch, S.; van Karnebeek, C.; Yaplito-Lee, J.; Distelmaier, F.; Õunap, K.; Rahman, S.; Castelle, M.; Kelleher, J.; Baris, S.; Iwanicka-Pronicka, K.; Steward, C.G.; Ciara, E.; Wortmann, S.B. (2017). A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. Journal of Inherited Metabolic Disease, 40 (6), 853−860. DOI: 10.1007/s10545-017-0057-z.
1.1.
2017
Hamdan, F.F.; Myers, C.T.; Cossette, P.; Lemay, P.; Spiegelman, D.; Laporte, A.D.; Nassif, C.; Diallo, O.; Monlong, J.; Cadieux-Dion, M.; Dobrzeniecka, S.; Meloche, C.; Retterer, K.; Cho, M.T.; Rosenfeld, J.A.; Bi, W.; Massicotte, C.; Miguet, M.; Brunga, L.; Regan, B.M. ... Michaud, J.L. (2017). High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. The American Journal of Human Genetics, 101 (5), 664−685. DOI: 10.1016/j.ajhg.2017.09.008.
1.3.
2017
Yakoreva, Maria; Vals, Mari-Anne; Kahre, Tiina; Õunap, Katrin (2017). Vermimishäired: kirjanduse ülevaade ja haigusjuhtude kirjeldus. Eesti Arst, 96(1), 22−35.
1.1.
2016
Koolen, D.A.; Pfundt, R.; Linda, K.; Beunders, G.; Veenstra-Knol, H.E.; Conta, J.H.; Fortuna, A.M.; Gillessen-Kaesbach, G.; Dugan, S.; Halbach, S.; Abdul-Rahman, O.A.; Winesett, H.M.; Chung, W.K.; Dalton, M.; Dimova, P.S.; Mattina, T.; Prescott, K.; Zhang, H.Z.; Saal, H.M.; Hehir-Kwa, J.Y. ... de Vries, B.B. (2016). The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics, 24 (5), 652−659. DOI: 10.1038/ejhg.2015.178.
1.1.
2016
Leffler, Melanie; Puusepp, Sanna; Žilina, Olga; Zhu, Ying; Kuuse, Kati; Bain, Nicole; Burgess, Trent; Õunap, Katrin; Field, Michael (2016). Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R. European Journal of Medical Genetics, 59 (4), 257−262. DOI: 10.1016/j.ejmg.2015.12.002.
1.1.
2016
La Piana, R; Cayami, FK; Tran, LT; Guerrero, K; van Spaendonk, R; Õunap, K; Pajusalu, S; Haack, T; Wassmer, E; Timmann, D; Mierzewska, H; Poll-Thé, BT; Patel, C; Cox, H; Atik, T; Onay, H; Ozkınay, F; Vanderver, A; van der Knaap, MS; Wolf, NI ... Bernard, G (2016). Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology, 86 (17), 1622−1626. DOI: 10.1212/WNL.0000000000002612.
1.1.
2016
Õunap; K. (2016). Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Molecular Syndromology, 7, 110−121.
1.1.
2016
Thompson, Kyle; Majd, Homa; Dallabona, Christina; Reinson, Karit; King, Martin S.; Alston, Charlotte L.; He, Langping; Lodi, Tiziana; Jones, Simon A.; Fattal-Valevski, Aviva; Fraenkel, Nitay D.; Saada, Ann; Chaham, Alon; Isohanni, Pirjo; Vara, Roshni; Barbosa, Inês A.; Simpson, Michael A.; Deshpande, Charu; Puusepp, Sanna; Bonnen, Penelope E. ... Taylor, Robert W. (2016). Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. The American Journal of Human Genetics, 99 (4), 860−876. DOI: 10.1016/j.ajhg.2016.08.014.
1.1.
2016
Jenkinson, E.M.; Rodero, M.P.; Kasher, P.R.; Uggenti, C.; Oojageer, A.; Goosey, L.C.; Rose, Y.; Kershaw, C.J.; Urquhart, J.E.; Williams, S.G.; Bhaskar, S.S.; O'Sullivan, J.; Baerlocher, G.M.; Haubitz, M.; Aubert, G.; Barañano, K.W.; Barnicoat, A.J.; Battini, R.; Berger, A.; Blair, E.M. ... Crow, Y.J. (2016). Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature Genetics, 48, 1185−1192. DOI: 10.1038/ng.3661.
1.1.
2016
Õunap, K.; Pajusalu, S.; Zilina, O.; Reimand, T.; Žordania, R. (2016). An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. Clinical Case Reports, 4 (8), 824−830. DOI: 10.1002/ccr3.632.
1.1.
2016
D'Angelo, Debra; Lebon, Sébastien; Chen, Qixuan; Martin-Brevet, Sandra; Snyder, LeeAnne Green; Hippolyte, Loyse; Hanson, Ellen; Maillard, Anne M; Faucett, W Andrew; Macé, Aurélien; Pain, Aurélie; Bernier, Raphael; Chawner, Samuel J R A; David, Albert; Andrieux, Joris; Aylward, Elizabeth; Baujat, Genevieve; Caldeira, Ines; Conus, Philippe; Ferrari, Carrina ... , (2016). Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry, 73 (1), 20−30. DOI: 10.1001/jamapsychiatry.2015.2123.
1.1.
2016
Reinson, Karit; Õiglane-Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin (2016). Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. American Journal of Medical Genetics Part A, 170 (8), 2173−2176. DOI: 10.1002/ajmg.a.37678.
1.1.
2016
Lilles, Stella; Talvik, Inga; Noormets, Klari; Vaher, Ulvi; Õunap, Katrin; Reimand, Tiia; Sander, Valentin; Ilves, Pilvi; Talvik, Tiina (2016). CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics, 47 (6), 361−367. DOI: 10.1055/s-0036-1586730.
1.1.
2016
Pajusalu, S.; Talvik, I.; Noormets, K.; Talvik, T.; Põder, H.; Joost, K.; Puusepp, S.; Piirsoo, A.; Stenzel, W.; Goebel, HH.; Nikopensius, T.; Annilo, T.; Nõukas, M.; Metspalu, A.; Õunap, K.; Reimand, T. (2016). De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion. Neuromuscular Disorders, 26 (3), 236−239. DOI: 10.1016/j.nmd.2015.11.011.
1.2.
2016
Reinson, K; Õunap, K. (2016). Ocular Manifestation of CACNA1A Pathogenic Variants. Pediatric Neurology Briefs, 30 (12), 46.
1.3.
2016
Reinson, Karit; Ilo, Ursula; Künnapas, Kadi; Vals, Mari-Anne, Muru, Kai; Kriisa, Annika; Õunap, Katrin. (2016). Vastsündinute laiendatud sõeluurimise juurutamine Eestis 19 kaasasündinud ainevahetushaiguse suhtes: esimese 1,5 aasta tulemuste kokkuvõte. Eesti Arst, 95 (8), 506−514.
1.1.
2015
Vals, Mari-Anne; Yakoreva, Maria; Kahre, Tiina; Mee, Pille; Muru, Kai; Joost, Kairit; Teek, Rita; Soellner, Lukas; Eggermann, Thomas; Õunap, Katrin. (2015). The frequency of methylation abnormalities among Estonian patients selected by clinical diagnostic scoring systems for Silver-Russell syndrome and Beckwith-Wiedemann syndrome. Genetic Testing and Molecular Biomarkers, 19 (12), 684−691. DOI: 10.1089/gtmb.2015.0163.
1.1.
2015
Brookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.B.; Field, M.; Schwartz, C.E.; Gecz, J.; Shi, Y. (2015). Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. Human Molecular Genetics, 24 (10), 2861−2872. DOI: 10.1093/hmg/ddv046.
1.1.
2015
Pajusalu, Sander; Žilina, Olga; Yakoreva, Maria; Tammur, Pille; Kuuse, Kati; Mölter-Väär, Triin; Nõukas, Margit; Reimand, Tiia; Õunap, Katrin (2015). The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity. Molecular Syndromology, 6, 134−139. DOI: 10.1159/000438776.
1.1.
2015
Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C.; Harewood, Louise; Kosmicki, Jack A.; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M.; Alfaiz, Ali Abdullah; van Haelst, Mieke M.; Andrieux, Joris; Gusella, James F.; Daly, Mark J.; Beckmann, Jacques S.; Jacquemont, Sebastien; Talkowski, Michael E.; Katsanis, Nicholas ... Reymond, Alexandre (2015). A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. The American Journal of Human Genetics, 96 (5), 784−796. DOI: 10.1016/j.ajhg.2015.04.002.
1.1.
2015
Pajusalu, Sander; Reimand, Tiia; Uibo, Oivi; Vasar, Maire; Talvik, Inga; Žilina, Olga; Tammur, Pille; Õunap, Katrin (2015). De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis. European Journal of Medical Genetics, 58, 336−340. DOI: 10.1016/j.ejmg.2015.04.002.
1.1.
2015
Pajusalu, Sander; Reimand, Tiia; Õunap, Katrin (2015). Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome. American Journal of Medical Genetics Part A, 167 (8), 1913−1915. DOI: 10.1002/ajmg.a.37105.
1.1.
2015
Wortmann, Saskia; Ziętkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias; Gersting, Søren; Muntau, Ania; Rakovic, Aleksandar; Renkema, Herma; Rodenburg, Richard; Strom, Tim; Meitinger, Thomas; Rubio-Gozalbo, Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop; van-Karnebeek, Clara; Lillquist, Yolanda; Lücke, Thomas ... Wevers, Ron. (2015). CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. The American Journal of Human Genetics, 96 (2), 245−257. DOI: 10.1016/j.ajhg.2014.12.013.
1.1.
2015
Vals, M.-A.; Kahre, T.; Mee, P.; Muru, K.; Kallas, E.; Žilina, O.; Tillmann, V.; Õunap, K. (2015). Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes. Molecular Syndromology, 6 (3), 147−151. DOI: 10.1159/000437061.
1.3.
2015
Laidre, Piret; Soplepmann, Jaan; Uibo, Oivi; Raime, Kairi; Yakoreva, Maria; Mirka, Gerli; Roomere, Hanno; Õunap, Katrin. (2015). Perekondlik adenomatoosne polüpoos: ülevaade ja ühe perekonna haigusjuht. Eesti Arst, 94 (1), 38−43.
1.3.
2015
Õunap, Katrin. (2015). Geneetikast ja geneetilisest testimisest meditsiinigeneetiku pilgu läbi. Eesti Arst, 94 (4), 211−216.
1.1.
2014
Reinthaler, E.M.; Lal, D.; Lebon, S.; Hildebrand, M.S.; Dahl, H.H.; Regan, B.M.; Feucht, M.; Steinböck, H.; Neophytou, B.; Ronen, G.M.; Roche, L.; Gruber-Sedlmayr, U.; Geldner, J.; Haberlandt, E.; Hoffmann, P.; Herms, S.; Gieger, C.; Waldenberger, M.; Franke, A.; Wittig, M. ... Neubauer, B.A. (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human Molecular Genetics, 23 (22), 6069−6080. DOI: 10.1093/hmg/ddu306.
1.1.
2014
Dallabona, C.; Diodato, D.; Kevelam, S.H.; Haack, T.B.; Wong, L.J.; Salomons, G.S.; Baruffini, E.; Melchionda, L.; Mariotti, C.; Strom, T.M.; Meitinger, T.; Prokisch, H.; Chapman, K.; Colley, A.; Rocha, H.; Ounap, K.; Schiffmann, R.; Salsano, E.; Savoiardo, M.; Hamilton, E.M. ... van der Knaap, M.S. (2014). Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology, 82 (23), 2063−2071.
1.1.
2014
Žilina, O.; Kahre, T.; Talvik, I.; Õiglane-Shlik, E.; Tillmann, V.; Õunap, K. (2014). Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome. European Journal of Medical Genetics, 57 (6), 279−283. DOI: 10.1016/j.ejmg.2014.03.007.
1.1.
2014
Grotto, S.; Drouin-Garraud, V.; Ounap, K.; Puusepp-Benazzouz, H.; Schuurs-Hoeijmakers, J.; Le Meur, N.; Chambon, P.; Fehrenbach, S.; van Bokhoven, H.; Frébourg, T.; de Brouwer, A.P.; Saugier-Veber, P. (2014). Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. European Journal of Medical Genetics, 57 (5), 200−206.
1.1.
2014
Õiglane-Shlik, E.; Puusepp, S.; Talvik, I.; Vaher, U.; Rein, R.; Tammur, P.; Reimand, T.; Teek, R.; Žilina, O.; Tomberg, T.; Õunap, K. (2014). Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities. European Journal of Paediatric Neurology, 18 (3), 338−346. DOI: 10.1016/j.ejpn.2014.01.008.
1.1.
2014
Livingston, J.H.; Mayer, J.; Jenkinson, E.; Kasher, P.; Stivaros, S.; Berger, A.; Cordelli, D.M.; Ferreira, P.; Jefferson, R.; Kutschke, G.; Lundberg, S.; Õunap, K.; Prabhakar, P.; Soh, C.; Stewart, H.; Stone, J.; van der Knaap, M.S.; van Esch, H.; van Mol, C.; Wakeling, E. ... Crow, Y.J. (2014). Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus. Neuropediatrics, 45 (3), 175−182. DOI: 10.1055/s-0033-1364180.
1.1.
2014
Simenson, K.; Õiglane-Shlik, E.; Teek, R.; Kuuse, K.; Õunap, K. (2014). A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region. American Journal of Medical Genetics Part A, 164 (3), 806−809. DOI: 10.1002/ajmg.a.36358.
1.1.
2014
Vanmarsenille, L.; Giannandrea, M.; Fieremans, N.; Verbeeck, J.; Belet, S.; Raynaud, M.; Vogels, A.; Männik, K.; Õunap, K.; Jacqueline, V.; Briault, S.; Van Esch, H.; D'Adamo, P.; Froyen, G. (2014). Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains. Human Mutation, 35 (3), 377−383. DOI: 10.1002/humu.22497.
1.1.
2014
Vaher, Ulvi; Nõukas, Margit; Nikopensius, Tiit; Kals, Mart; Annilo, Tarmo; Nelis, Mari; Õunap, Katrin; Reimand, Tiia; Talvik, Inga; Ilves, Pilvi; Piirsoo, Andres; Seppet, Enn; Metspalu, Andres; Talvik, Tiina (2014). De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders. Journal of Child Neurology, 29 (12), 202−206. DOI: 10.1177/0883073813511300.
1.1.
2014
Vals, Mari-Anne; Õiglane-Shlik, Eve; Nõukas, Margit; Shor, Riina; Peet, Aleksandr; Kals, Mart; Kivistik, Paula Ann; Metspalu, Andres; Õunap, Katrin (2014). Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. European Journal of Human Genetics, 22 (11), 1327−1329. DOI: 10.1038/ejhg.2014.25.
1.2.
2014
Žilina, O.; Teek, R.; Tammur, P.; Kuuse, K.; Yakoreva, M.; Vaidla, E.; Mölter-Väär, T.; Reimand, T.; Kurg, A.; Õunap, K. (2014). Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience. Molecular Genetics & Genomic Medicine, 2 (2), 166−175. DOI: 10.1002/mgg3.57.
1.1.
2013
Teek, R.; Kruustük, K.; Žordania, R.; Joost, K.; Kahre, T.; Tõnisson, N.; Nelis, M.; Zilina, O.; Tranebjaerg, L.; Reimand, T.; Õunap, K. (2013). Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients. Advances in Medical Sciences, 58 (2), 419−428. DOI: 10.2478/ams-2013-0001.
1.1.
2013
van de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grünewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M.A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M. ... Salomons, G.S. (2013). Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of Medical Genetics, 50 (7), 463−472. DOI: 10.1136/jmedgenet-2013-101658.
1.1.
2013
Žilina, O.; Reimand, T.; Tammur, P.; Tillmann, V.; Kurg, A.; Õunap, K. (2013). Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature. European Journal of Medical Genetics, 56 (4), 202−206. DOI: 10.1016/j.ejmg.2013.01.008.
1.1.
2012
Zufferey, F.; Sherr, E.H.; Beckmann, N.D.; Hanson, E.; Maillard, A.M.; Hippolyte, L.; Macé, A.; Ferrari, C.; Kutalik, Z.; Andrieux, J.; Aylward, E.; Barker, M.; Bernier, R.; Bouquillon, S.; Conus, P.; Delobel, B.; Faucett, W.A.; Goin-Kochel, R.P.; Grant, E.; Harewood, L. ... 16p11.2 European, Consortium (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics, 49 (10), 660−668. DOI: 10.1136/jmedgenet-2012-101203.
1.1.
2012
Betsalel, O.T.; Pop, A.; Rosenberg, E.H.; Fernandez-Ojeda, M.; van Esch, H.; Nassogne, M.C.; Sznajer, Y.; Mercimek-Mahmutoglu, S.; Ounap, K.; Cheillan, D.; Lion-Francois, L.; Pitelet, G.; Munnich, A.; Quijano-Roy, S.; Valayannopoulos, V.; Burkhard, S.; Gebhardt, B.R.; Moog, U.; Muecke, J.; Poggenburg, I. ... Salomons, G.S. (2012). Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. Molecular Genetics and Metabolism, 105 (4), 596−601.
1.1.
2012
Joost, K.; Rodenburg, R.J.; Piirsoo, A.; van den Heuvel, L.; Žordania, R.; Põder, H.; Talvik, I.; Kilk, K.; Soomets, U.; Õunap, K. (2012). A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children. Molecular Syndromology, 3 (3), 113−119. DOI: 10.1159/000341375.
1.1.
2012
Anderson, B.H.; Kasher, P.R.; Mayer, J.; Szynkiewicz, M.; Jenkinson, E.M.; Bhaskar, S.S.; Urquhart, J.E.; Daly, S.B.; Dickerson, J.E.; O'Sullivan, J.; Leibundgut, E.O.; Muter, J.; Abdel-Salem, G.M.; Babul-Hirji, R.; Baxter, P.; Berger, A.; Bonafé, L.; Brunstom-Hernandez, J.E.; Buckard, J.A.; Chitayat, D. ... Crow, Y.J. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44 (3), 338−342. DOI: 10.1038/ng.1084.
1.1.
2012
Õunap, K.; Puusepp-Benazzouz, H.; Peters, M.; Vaher, U.; Rein, R:; Proos, A:; Field, M.; Reimand, T. (2012). A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. European Journal of Medical Genetics, 55 (3), 178−184. DOI: 10.1016/j.ejmg.2012.01.004.
1.1.
2012
Krabbi, K.; Joost, K.; Zordania, R.; Talvik, I.; Rein, R.; Huijmans, J. G. M.; Verheijen, F. V.; Õunap, K (2012). The live-birth prevalence of mucopolysaccharidoses in Estonia. Genetic Testing and Molecular Biomarkers, 16 (8), 846−849. DOI: 10.1089/gtmb.2011.0307.
1.1.
2012
Joost, K.; Õunap, K.; Žordania, R.; Uudelepp, M.-L.; Olsen, R.K.; Kall, K.; Kilk, K.; Soomets, U.; Kahre, T. (2012). Prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Estonia. JIMD Reports, 2, 79−85.
1.1.
2012
Žilina, Olga; Reimand, Tiia; Zjablovskaja, Polina; Männik, Katrin; Männamaa, Mairi; Traat, Aili; Puusepp-Benazzouz, Helen; Kurg, Ants; Õunap, Katrin (2012). Maternally and Paternally Inherited Deletion of 7q31 Involving the FOXP2 Gene in Two Families. American Journal of Medical Genetics Part A, 158A (1), 254−256. DOI: 10.1002/ajmg.a.34378.
1.1.
2011
Otto, EA; Ramaswami, G; Janssen, S; Chaki, M; Allen, SJ; Zhou, W; Airik, R; Hurd, TW; Ghosh, AK; Wolf, MT; Hoppe, B; Neuhaus, TJ; Bockenhauer, D; Milford, DV; Soliman, NA; Antignac, C; Saunier, S; Johnson, CA; Hildebrandt, F. GPN Study Group: Bergmann, C; Zerres, K ... Bitzan, M. (2011). Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of Medical Genetics, 48 (2), 105−116.
1.1.
2011
Mitter, D; Ullmann, R; Muradyan, A; Klein-Hitpass, L; Kanber, D; Õunap, K; Kaulisch, M; Lohmann, D. (2011). Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. European Journal of Human Genetics, 19 (9), 947−958.
1.1.
2011
Jurecka, A; Piotrowska, E; Cimbalistiene, L; Gusina, N; Sobczynska, A; Czartoryska, B; Czerska, K; Õunap, K; Wegrzyn, G; Tylki-Szymanska, A. (2011). Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Molecular Genetics and Metabolism, 105 (1), 237−243. DOI: 10.1016/j.ymgme.2011.11.003.
1.1.
2011
Achouitar, S.; Mohamed, M.; Gardeitchik, T.; Wortmann, S.B.; Sykut-Cegielska, J.; Ensenauer, R.; de Baulny, H.O.; Õunap, K.; Martinelli, D.; de Vries, M.; McFarland, R.; Kouwenberg, D.; Theodore, M.; Wijburg, F.; Grünewald, S.; Jaeken, J.; Wevers, R.A.; Nijtmans, L.; Elson, J.; Morava, E. (2011). Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. Journal of Inherited Metabolic Disease, 34 (4), 923−927.
1.1.
2011
Suomalainen, A.; Elo, J.M.; Pietiläinen, K.H.; Hakonen, A.H.; Sevastianova, K.; Korpela, M.; Isohanni, P.; Marjavaara, S.K.; Tyni, T.; Kiuru-Enari, S.; Pihko, H.; Darin, N.; Ounap, K.; Kluijtmans, L.A.; Paetau, A.; Buzkova, J.; Bindoff, L.A.; Annunen-Rasila, J.; Uusimaa, J.; Rissanen, A. ... Tyynismaa, H. (2011). FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. The Lancet Neurology, 10 (9), 806−818.
1.1.
2011
Männik, K; Parkel, S; Palta, P; Zilina, O; Puusepp, H; Esko, T; Mägi, R; Nõukas, M; Veidenberg, A; Nelis, M; Metspalu, A; Remm, M; Ounap, K; Kurg, A. (2011). A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia. European Journal of Medical Genetics, 54 (2), 136−143.
1.1.
2011
Krabbi, K.; Uudelepp, M.-L.; Joost, K.; Zordania, R.; Õunap, K. (2011). Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control. Molecular Genetics and Metabolism, 103 (3), 249−253. DOI: 10.1016/j.ymgme.2011.03.023.
1.1.
2011
Joost, K.; Tammur, P.; Teek, R.; Žilina, O.; Peters, M.; Kreile, M.; Lace, B.; Žordania, R.; Talvik, I.; Õunap, K. (2011). Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency. Molecular Syndromology, 1 (6), 311−315. DOI: 10.1159/000331323.
1.2.
2011
Muru, K.; Kalev, I.;Teek, R.; Sõnajalg, M.; Kuuse, K.; Reimand, T.; Õunap, K. (2011). A boy with Holt-Oram syndrome caused by novel mutation c.1304delT in the TBX5 gene. Molecular Syndromology, 1 (6), 307−310. DOI: 10.1159/000330109.
1.1.
2010
Oitmaa, E.; Peters, M.; Vaidla, K.; Andreson, R.; Mägi, R.; Slavin, G.; Velthut, .; Tõnisson, N.; Reimand, T.; Remm, M.; Schneider, M.; Õunap, K.; Salumets, A.; Metspalu, A. (2010). Molecular diagnosis of Down Syndrome using Quantitative APEX-2 microarrays. Prenatal Diagnosis, 30, 1170−1177. DOI: 10.1002/pd.2639.
1.1.
2010
Teek, R.; Kruustük, K.; Zordania, R.; Joost, K.; Reimand, T.; Möls, T.; Oitmaa, E.; Kahre, T.; Tõnisson, N.; Õunap, K. (2010). Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. International Journal of Pediatric Otorhinolaryngology, 74 (9), 1007−1012. DOI: 10.1016/j.ijporl.2010.05.026.
1.1.
2010
Joost, K; Rodenburg, R; Piirsoo, A; van den Heuvel, B; Zordania, R; Ounap, K. (2010). A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. Pediatric Neurology, 42 (3), 227−230. DOI: 10.1016/j.pediatrneurol.2009.10.004.
1.1.
2010
Õunap, K.; Joost, K.; Temberg, T.; Krabbi, K.; Tõnisson, N. (2010). Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients. Journal of Inherited Metabolic Disease, 33 (2), 175−176. DOI: 10.1007/s10545-010-9045-2.
1.1.
2010
Walters, R. G.; Jacquemont, S.; Valsesia, A.; de Smith, A. J.; Martinet, D.; Andersson, J.; Falchi, M.; Chen, F.; Andrieux, J.; Lobbens, S.; Delobel, B.; Stutzmann, F.; El-Sayed Moustafa, J. S.; Chèvre, J.-C.; Lecoeur, C.; Vatin, V.; Bouquillon, S.; Buxton, J. L.; Boute, O.; Holder-Espinasse, M. ... Beckmann, J. S. (2010). A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature, 463 (7281), 671−675. DOI: 10.1038/nature08727.
1.1.
2010
Kalev, I., Muru, K., Teek, R., Zordania, R., Reimand, T., Köbas, K., Õunap, K. (2010). LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. European Journal of Pediatrics, 169 (4), 469−473. DOI: 10.1007/s00431-009-1058-1.
1.2.
2010
Muru, Kai; Sitska, Mari; Asser, Karin; Ehrenberg, Aivar; Karro, Helle; Õunap, Katrin; Reimand, Tiia (2010). Prospective experience with contingent screening strategy for Down syndrome in Estonia. Journal of Community Genetics, 1 (3), 133−138. DOI: 10.1007/s12687-010-0020-2.
1.3.
2010
Teek, R.; Kruustük, K.; Žordania, R.; Joost, K.; Reimand, T.; Oitmaa, E.; Nelis, M.; Žilina, O.; Kahre, T.; Tõnisson, N.; Õunap, K. (2010). Kuulmislanguse geneetilised põhjused Eesti lastel ning leitud genotüübi ja fenotüübi omavaheline võrdlus. Eesti Arst, 89 (12), 781−789.
1.1.
2009
van Bon, BW; Mefford, HC; Menten, B; Koolen, DA; Sharp, AJ; Nillesen, WM; Innis, JW; de Ravel, TJ; Mercer, CL; Fichera, M; Stewart, H; Connell, LE; Ounap, K; Castle, B; Van der Aa, N; van Ravenswaaij, C; Nobrega, MA; Serra-Juhé, C; Simonic, I; de Leeuw, N ... de Vries, BB. (2009). Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics, 511−523.
1.1.
2009
Puusepp, H.; Zilina, O.; Teek, R.; Männik, K.; Parkel, S.; Kruustük, K.; Kuuse, K.; Kurg, A.; Ounap, K. (2009). 5.9Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. European Journal of Medical Genetics, 52 (1), 71−74.
1.1.
2009
Bartholdi, D.; Krajewska-Walasek, M.; Ounap, K.; Gaspar, H.; Chrzanowska, K.; Ilyana, H.; Kayserili, H.; Lurie, I.; Schinzel, A.; Baumer, A. (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46 (3), 192−197. DOI: 10.1136/jmg.2008.061820.
1.1.
2009
Teek, R.; Oitmaa, E.; Kruustük, K.; Zordania, R.; Joost, K.; Raukas, E.; Tõnisson, N.; Gardner, P.; Schrijver, I.; Kull, M.; Õunap, K. (2009). Splice variant IVS2-2A >G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. International Journal of Pediatric Otorhinolaryngology, 103−107. DOI: 10.1016/j.ijporl.2008.10.003.
1.3.
2009
Tigane, Tiiu-Liis; Laidre, Piret; Joost, Kairit; Tõnisson, Neeme; Mikita, Valdur; Õunap, Katrin, Žordania, Riina (2009). Päriliku rinna- ja munasarjavähiga patsientide geneetilise konsulteerimise ja jälgimise juhend. Eesti Arst, 88, 11, 756−760.
1.1.
2008
Puusepp, H.; Zordania, R.; Paal, M.; Bartsch, O.; Ounap, K. (2008). Girl with partial Turner syndrome and absence epilepsy. Pediatric Neurology, 38 (4), 289−292. DOI: 10.1016/j.pediatrneurol.2007.11.008.
1.1.
2008
Puusepp, H.; Kahre, T.; Sibul, H.; Soo, V.; Lind, I.; Raukas, E.; Õunap, K. (2008). Prevalence of the Fragile X Syndrome Among Estonian Mentally Retarded and the Entire Children's population. Journal of Child Neurology, 23 (12), 1400−1405. DOI: 10.1177/0883073808319071.
1.3.
2008
Muru, K.; Virro, S.; Õunap, K.; Kalev, I. (2008). Kaasasündinud südamerikete geneetilised põhjused. Eesti Arst, 87 (5), 357−366.
1.3.
2008
Puusepp, H.; Rein, R.; Žordania, R.; Kurvinen, E.; Jakovlev, Ü.; Õunap, K. (2008). Fragiilse X-i sündroom Eestis: patsientide ja premutatsiooni kandjate kliinilised ja sotsiaalsed probleemid. Eesti Arst, 500−509.
1.3.
2008
Joost, K.; Kilk, K.; Toome, L.; Soomets, U.; Õunap, K.; Žordania, R. (2008). Pika ahelaga rasvhapete oksüdatsiooni defekt imikul : haigusjuhu kirjeldus. Eesti Arst, 4, 274−279.
1.3.
2007
Teek, Rita; Raukas, Elve; Oitma, Eneli; Kruustük, Katrin; Žordania, Riina; Joost, Kairit; Kull, Mart; Õunap, Katrin (2007). Pärilik ehk geneetiline kuulmislangus. Eesti Arst, 86 (4), 254−261.
1.3.
2007
Puusepp, H.; Männik, K.; Zilina, O.; Parkel, S.; Kurg, A.; Õunap, K. (2007). Vaimse arengu mahajäämuse geneetilsed põhjused: X-liiteline vaimse arengu mahajäämus. Eesti Arst, 86 (4), 239−245.
1.3.
2007
Õiglane-Šlik E., Muug K., Lunge K., Napa A., Talvik T., Õunap K. (2007). Angelmani ja Praderi-Willi sündroom – lühiülevaade ja kliinilise fenotüübi iseärasused Eestis. Eesti Arst, 86 (5), 307−315.
1.1.
2006
Reimand, T.; Õunap, K.; Zordania, R.; Ilus, T.; Uibo, O.; Sitska, M.; Talvik, T. (2006). Descriptive epidemiology of Down syndrome in Estonia. Paediatric and Perinatal Epidemiology, 20 (6), 512−519.
1.1.
2006
Weimer, J.; Metzke-Heidemann, S.; Plendl, H.; Caliebe, A.; Grunewald, R.; Õunap, K.; Tammur, P.; Jonat, W.; Bartsch, O.; Siebert, R.; Arnold, N. (2006). Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay. American Journal of Medical Genetics Part A, 140A (5), 488−495.
1.1.
2006
Õiglane-Shlik, E.; Talvik, T.; Zordania, R.; Põder, H.; Kahre, T.; Raukas, E.; Ilus, T.; Tasa, G.; Bartsch, O.; Väisänen, M.-L.; Õunap, K. (2006). Prevalence of Angelman Syndrome and Prader–Willi Syndrome in Estonian Children: Sister Syndromes Not Equally Represented. American Journal of Medical Genetics Part A, 140A (18), 1936−1943.
1.1.
2006
Oiglane-Shlik, E.; Zordania, R.; Varendi, H.; Antson, A.; Mägi, M.; Tasa, G.; Bartsch, O.; Talvik, T.; Õunap, K. (2006). The neonatal phenotype of Prader-Willi syndrome. American Journal of Medical Genetics, 140A (11), 1241−1244.
1.3.
2006
Reimand, T.; Uibo, O.; Zordania, R.; Ilus, T.; Õunap, K.; Sitska, M.; Talvik, T. (2006). Downi sündroom Eestis. Eesti Arst, 85 (2), 78−83.
1.3.
2006
Reimand, Tiia; Grünberg, Heli; Uibo, Oivi; Õunap, Katrin; Talvik, Tiina (2006). Downi sündroomiga isikute meditsiinilise käsitluse juhend. Eesti Arst, 85 (10), 654−664.
1.1.
2005
Oiglane-Shlik, E.; Rein, R.; Tillmann, V.; Talvik, T.; Ounap, K. (2005). A female with Angelman syndrome and unusual limb deformities. Pediatric Neurology, 33 (1), 66−69.
1.1.
2005
Ylisaukko-Oja, T.; Rehnstrom, K.; Vanhala, R.; Kempas, E.; von Koskull, H.; Tengstrom, C.; Mustonen, A.; Ounap, K.; Lahdetie, J.; Jarvela, I. (2005). MECP2 mutation analysis in patients with mental retardation. American Journal of Medical Genetics Part A, 132A (2), 121−124.
1.1.
2005
Ounap, K.; Ilus, T.; Laidre, P.; Uibo, O.; Tammur, P.; Bartsch, O. (2005). A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21. American Journal of Medical Genetics Part A, 137A (3), 323−327.
1.1.
2005
Ounap, K.; Ilus, T.; Bartsch, O. (2005). A girl with inverted triplication of chromosome 3q25.3 -> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. American Journal of Medical Genetics Part A, 134A (4), 434−438.
1.1.
2004
Ounap, K.; Reimand, T.; Magi, ML.; Bartsch, O. (2004). Two sisters with Silver-Russell phenotype. American Journal of Medical Genetics Part A, 131A (3), 301−306.
1.1.
2004
Walter, S.; Sandig, K.; Hinkel, GK.; Mitulla, B.; Ounap, K.; Sims, G.; Sitska, M.; Utermann, B.; Viertel, P.; Kalscheuer, V.; Bartsch, O. (2004). Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. American Journal of Medical Genetics Part A, 128A (4), 364−373.
1.1.
2004
Ounap, K.; Uibo, O.; Zordania, R.; Kiho, L.; Ilus, T.; Oiglane-Shlik, E.; Bartsch, O. (2004). Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. American Journal of Medical Genetics Part A, 130A (4), 415−423.
1.3.
2004
Kuuse, Kati; Ilus, Tiiu; Tammur, Pille; Õunap, Katrin; Sitska, Mari (2004). Sünnieelselt diagnoositud sugukromosoomide aneuploidia mosaiikne vorm. Eesti Arst, 9, 614.
1.1.
2003
Bartsch, O.; Nemeckova, M.; Kocarek, E.; Wagner, A.; Puchmajerova, A.; Poppe, M.; Ounap, K.; Goetz, P. (2003). DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. American Journal of Medical Genetics Part A, 117A (1), 1−5.
1.2.
2003
Reimand, T.; Uibo, O.; Zordania, R.; Palmiste, V; Õunap, K.; Talvik, T. (2003). Parents' satisfaction with medical and social assistance provided to children with Down Syndrome: experience in Estonia. Community Genetics, 6 (3), 166−170.
1.1.
2002
Ounap, K.; Bartsch, O.; Uibo, O.; Laidre, P. (2002). Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 -> qter, and trisomy 8q24.3 -> qter. American Journal of Medical Genetics, 108 (4), 322−326.
1.1.
2002
Oiglane, E.; Ounap, K.; Bartsch, O.; Rein, R.; Talvik, T. (2002). Sudden death of a girl with Prader-Willi syndrome. Genetic Counseling, 13 (4), 459−464.
1.3.
2002
Õunap, Katrin; Anijalg, Ene; Pikk, Olev; Kukk, Terje (2002). Pärilik lüsosomaalne ladestumishaigus - Fabry tõbi. Eesti Arst, 2, 77−84.
1.1.
2000
Talvik, I.; Ounap, K.; Bartsch, O.; Ilus, T.; Uibo, O.; Talvik, T. (2000). Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32 - > qter. American Journal of Medical Genetics, 93 (5), 399−402.
1.2.
2000
Lilleväli, H.; Margus, K.; Õunap, K.; Metspalu, A. (2000). Mutation A985 G in the MCAD Gene Shows Low Incidence in Estonian Population. Human Mutation, 15 (3), 293−294.
1.3.
1999
Õunap, Katrin; Lilleväli, Hardo; Metspalu, Andres; Sitska, Mari (1999). Fenüülketonuuria Eestis: haigete kliinilise pildi ja genotüübi iseloomustus. Eesti Arst, 3, 234−240.
2.3.
1999
Õunap, Katrin (1999). Phenylketonuria in Estonia: incidence, newborn screening, diagnosis, clinical characterization and genotype/phenotype correlation. (Tartu Ülikool.; Arstiteaduskond.; ). Tartu: Tartu University Press.
1.1.
1998
Ounap, K.; Lillevali, H.; Metspalu, A.; Lipping-Sitska, M. (1998). Development of the phenylketonuria screening programme in Estonia. Journal of Medical Screening, 5 (1), 22−23.
1.1.
1998
Ounap, K.; Justus, I.; Lipping-Sitska, M. (1998). Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? Clinical Dysmorphology, 7 (1), 45−50.
1.1.
1998
Ounap, K.; Laidre, P.; Bartsch, O.; Rein, R.; Lipping-Sitska, M. (1998). Familial Williams-Beuren syndrome. American Journal of Medical Genetics, 80 (5), 491−493.
1.1.
1996
Lillevali, H.; Ounap, K.; Metspalu, A. (1996). Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes. European Journal of Human Genetics, 4 (5), 296−300.
1.1.
1996
Ounap, K.; Lillevali, H.; Klaassen, T.; Metspalu, A.; Sitska, M. (1996). The incidence and characterization of phenylketonuric patients in Estonia. Journal of Inherited Metabolic Disease, 19 (3), 381−382.
13.02.2022

Katrin Õunap

https://www.etis.ee/CV/Katrin_Õunap/eng
29.07.1964
731 9490
katrin.ounap@kliinikum.ee

Career

Institutions and positions
01.03.2022–...   
Tartu University Hospital, United laboratories, Dept. of Clinical Genetics, Senior medical doctor in Medical Genetics (0,50)
01.01.2019–31.12.2023   
University of Tartu, Faculty of Medicine, Institute of Clinical Medicine, Professor of Clinical Genetics (1,00)
01.01.2017–31.12.2018   
University of Tartu, Faculty of Medicine, Institute of Clinical Medicine, Professor of Clinical Genetics (0,50)
01.01.2016–31.12.2016   
University of Tartu, Faculty of Medicine, Institute of Clinical Medicine, Professor of Clinical Genetics (0,50)
01.09.2015–31.12.2015   
University of Tartu, Faculty of Medicine, Department of Pediatrics, Professor of Clinical Genetics (0,50)
01.09.2010–31.08.2015   
University of Tartu, Faculty of Medicine, Department of Pediatrics, Professor of Clinical Genetics (0,50)
01.09.2008–31.08.2010   
University of Tartu, Faculty of Medicine, Department of Pediatrics, Associate Professor (0,50)
01.01.2008–28.02.2022   
Tartu University Hospital, United Laboratories, the Head of Department of Clinical Genetics (0,50)
01.09.2003–31.08.2008   
University of Tartu, Faculty of Medicine, Department of Pediatrics, Associate Professor (0,50)
01.01.1999–31.12.2007   
Tartu University Hospital, Medical Genetics Center and Molecular Diagnostic Center, United Laboratories, paediatrician and clinical geneticist; (1,00)
01.07.1996–31.12.1999   
Tartu University Children's Hospital, Molecular Diagnostic Centre, pediatrician and clinical geneticist; (0,25)
01.03.1990–31.12.1999   
Tartu University Children's Hospital,Medical Genetics Center, pediatrician and clinical geneticist; (1,00)
10.08.1989–28.02.1990   
Tartu University Children’s Hospital, Neurorehabilitation Unit, paediatrician; (1,00)
01.08.1988–30.06.1989   
Tartu University Children’s Hospital, internship (Estonian license to practise as an MD of paediatrics) (1,00)
 
 
Education
15.10.2018–14.04.2019   
The Joint Center for Mendelian Genomics (CMG) at the Broad Institute of MIT and Harvard
20.02.2017–24.02.2017   
The Joint Center for Mendelian Genomics (CMG) at the Broad Institute of MIT and Harvard
17.04.2017–21.04.2017   
Institute of Imagine, Paris
2014–2014   
Institute of Medical Genetics, University of Zurich, Swizerland (1,5 kuud)
2012–2012   
Radboud University Nijmegen, Department of Clinical Genetics(1 month)
2002–2002   
In clinical genetics at Institute of Clinical Genetics, Dresden Technical University, Dresden, Germany (2 months)
1996–1996   
In clinical genetics at Institute of Human Genetics, Virchow-Clinicum, Humboldt University, Berlin, Germany (1 month);
1996–1996   
In inborn errors of metabolism at Department of Clinical Chemistry, Göteborg University, Sweden (1 month);
1994–1994   
In clinical genetics at Institute of Human Genetics, Virchow-Clinicum, Humboldt University, Berlin, Germany (1 month);
1992–1992   
In clinical genetics at Helsinki University Children’s Hospital (1 month);
1990–1990   
In clinical genetics at Russian Institute of Paediatrics and Child Surgery (1 month);
1988–1989   
Postgraduate medical training:
1982–1988   
Tartu University, Faculty of Medicine, M.D., Date of graduation: June 1988;
 
 
R&D related managerial and administrative work
2019−...   
The ESHG-EuroGentest, The Quality subcommittee member
2014−...   
The President of ERNDIM (the External Quality Assurance Programme) board of trustees
A member of the Estonian Doctors’ Association, Estonian Paediatric Association, Estonian Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism (SSIEM), European Society of Human Genetics (ESHG) and Estonian Phenylketonuria Association
2014−2020   
The member of the Society of the Study of Inborn Errors of Metabolism (SSIEM) board of trustee
2014−2018   
The president of the Society of Medical Genetics
2011−2014   
The member of ERNDIM (the External Quality Assurance Programme) board of trustees
2007−2014   
Baltic Metabolic Group, president
2006−2007   
The Board member of Estonian Society of Human Genetics
1999−2001   
The president of Estonian Society of Human Genetics;
1996−2001   
The board member of the Pediatric Society of Tartu;
 
 
Creative work
Since 1994 I am actively involved in the work of parental organisation of the patients with metabolic diseases (Estonian PKU Association)..

Qualifications

Academic degrees
Katrin Õunap, Doctor's Degree, 1999, (sup) Mari Sitska; Tiina Talvik, Phenylketonuria in Estonia: incidence, newborn screening, diagnosis, clinial characterization and genotype/phenotype correlation, University of Tartu.
 
 
Honours & awards
2020, Katrin Õunap, Neinar Seli prize awarded to physician-scientist working at Tartu University Hospital for most scientific publications in 2019
2019, Katrin Õunap, Neinar Seli prize awarded to physician-scientist working at Tartu University Hospital for most scientific publications in 2018
2017, Katrin Õunap, Neinar Seli prize awarded to physician-scientist working at Tartu University Hospital for most scientific publications in last five years
2015, Katrin Õunap, Neinar Seli prize awarded to physician-scientist working at Tartu University Hospital for most scientific publications in 2014
2015, Katrin Õunap, Research award of Tartu University Hospital for the work entitled "Widened newborn screening in Estonia", authors K. Reinson, K. Künnapas, A. Kriisa, M.-A. Vals, K. Muru, K. Õunap
2014, Katrin Õunap, University of Tartu, Small medal
2013, Katrin Õunap, Neinar Seli prize awarded to physician-scientist working at Tartu University Hospital for most scientific publications in 2012
2011, Katrin Õunap, Neinar Seli prize awarded to physician-scientist working at Tartu University Hospital for most scientific publications in last five years
2010, Katrin Õunap, Research award of Tartu University Hospital for the work entitled "The prevalence of long chain hydroxyacyl-CoA dehydrogenase deficiency in Estonia", authors K. Joost, T. Kahre, K. Kilk, M.-L. Uudelepp, U. Soomets, K. Õunap
1996, Katrin Õunap, Liisa Kolumbus Foundation Scholarship
1996, Katrin Õunap, German-Baltic Medical Doctors Association
1994, Katrin Õunap, German-Baltic Medical Doctors Association
 
 
Fields of research
ETIS CLASSIFICATION: 3. Health; 3.7. Clinical Medicine; SPECIFICATION: Clinical genetics
 
 
Additional information
Ph.D.University of Tartu, 1999

Projects in progress

Completed projects

Dissertations under supervision

Supervised dissertations

Publications

Category
Year
Publication
 
1.1.
2022
Siiri Sarv, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Kai Muru, Haide Põder, Katrin Gross-Paju, Sandra Ütt, Riina Zordania, Inga Talvik, Eve Õiglane-Shlik, Kristina Muhu and Katrin Õunap (2022). The birth prevalence of spinal muscular atrophy: a population specific approach in Estonia. Frontiers in Genetics [forthcoming].
1.1.
2021
David B. Beck, Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela T. Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D’Souza, Joann Bodurtha, Weiyi Mu, Kristin W. Barañano, Noriko Miyake, Raymond Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, Tomoki Kosho, Ryan Dale, Apratim Mitra, Ellen Macnamara, Undiagnosed Diseases Network, Naomichi Matsumoto, Johji Inazawa, Magdalena Walkiewicz, Katrin Õunap, Cynthia J. Tifft, Ivona Aksentijevich, Daniel L. Kastner, Pedro P. Rocha, and Achim Werner (2021). Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Science Advances, 7 (4). DOI: 10.1126/sciadv.abe2116.
1.1.
2021
Monika Olahova, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen Sommerville, Emma Blakely, Jack Collier, Emily Hoberg, Viktor Stranecky, Hana Hartmannova, Anthony Bleyer, Kim McBride, Sasigarn Bowden, Zuzana Korandova, Alena Pecinova, Hans Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark Tarnopolsky, Lauren Brady, K Weaver, Carlos Prada, Katrin Ounap, Monica Wojcik, Sander Pajusalu, Safoora Syeda, Lynn Pais, Elicia Estrella, Christine Bruels, Louis Kunkel, Peter Kang, Penelope Bonnen, Tomas Mracek, Stanislav Kmoch, Grainne Gorman, Maria Falkenberg, Claes Gustafsson, and Robert Taylor (2021). POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature Communications, 12, 1135. DOI: 10.1038/s41467-021-21279-0.
1.1.
2021
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. (2021). Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Genetics in Medicine, 23 (8), 1474−1483. DOI: 10.1038/s41436-021-01158-1.
1.1.
2021
De La Vega, F.M.; Chowdhury, S.; Moore, B.; Frise, E.; McCarthy, J.; Hernandez, E.J.; Wong, T.; James, K.; Guidugli, L.; Agrawal, P.B.; Genetti, C.A.; Brownstein, C.A.; Beggs, A.H.; Löscher, B.S.; Franke, A.; Boone, B.; Levy, S.E.; Õunap, K.; Pajusalu, S.; Huentelman, M. ... Kingsmore, S.F. (2021). Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Medicine, 13 (1). DOI: 10.1186/s13073-021-00965-0.
1.1.
2021
van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ; Study Group on Missed PKU and Missed to Follow-Up: K Ahring, F Al Mutairi, J B Arnoux, D Ballhausen, J Baruteau, L Bernstein, S Bijarnia-Mahay, F Boemer, A Bordugo, L Brodosi, S Brooks, H B Chew, K Chyz, M Coker, C Collingwood, V Cornejo, M L Couce, A Cozens, S Dahri, A M Das, C de Laet, J de Las Heras Montero, A de Vreugd, F G Debray, M Dercksen, M Descartes, L Diogo, E Drogari, H Eiroa, F T Eminoglu, G M Enns, F Eyskens, F Feillet, S Ford, L Franzson, P Freisinger, P Garcia, O Grafakou, G Gramer, S Gray, U Groselj, S C Grünert, D Haas, B Handoom, T B Harte, C Hendriksz, R S Heredia, J Hertecant, T Hoi-Yee Wu, A Inwood, S S Jamuar, P Jesina, J J Jonsson, A Jovanovic, I Kern, S Kilavuz, I Knerr, D Kor, D Korycinska-Chaaban, M Kreile, B Kumru, B Lanpher, R Lapatto, C Lavigne, E Leao-Teles, V Leuzzi, N Longo, A Lopez-Uriarte, C M A Lubout, A MacDonald, E M Megdad, J Mitchell, F Mochel, P J Moreno-Lozano, A Morris, C F Moura de Souza, T Munoz, P I Nevalainen, M Oscarson, K Õunap, S Paci, G M Pastores, P L Pearl, F B Piazzon, J Pitt, G Poon, F Porta, N Presner, A A Rabaty, K Reinson, P Reismann, T Rink, J C Rocha, E Rodrigues, A G Saini, A Sanchez-Valle, J Sander, P Sarkhail, I V D Schwartz, R Sharma, B Sheng, K Siriwardena, S Sirrs, D R Sjarif, N Sondheimer, R Sparkes, N Specola, K M Stepien, I Szatmari, M Tchan, T Tkemaladze, C Tran, M G Valle, M Vela-Amieva, M L Verdaguer, S A Vergano, P Vermeersch, R Vulturar, M A E M Wagenmakers, N Weinhold, A B Williams, W G Wilson, D Zafeiriou, H Zhang, A Ziagaki, J Zolkowska. (2021). Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey. The Journal of Pediatrics, Dec (239), 231−234. DOI: 10.1016/j.jpeds.2021.08.070.
1.3.
2021
Laura Mihkla, Katrin Õunap (2021). Arengu hilinemisega lapse uurimine meditsiinigeneetiku vaatevinklist. Eesti Arst, 100 (12), 684−691.
1.3.
2021
Konstantin Ridnõi, Kai Muru, Eva-Liina Ustav, Pille Tammur, Triin Mölter-Väär, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap (2021). Loote kromosoomhaiguste esimese trimestri sõeluuringu tulemused Eestis kahe aasta jooksul. Eesti Arst, 100 (12), 674−679. DOI: 10.15157/ea.vi.18489.
5.1.
2021
K. Ounap, K. Reinson, K. T. Oja, E. G. Seaby, M. H. Wojcik, A. O’Donnell-Luria, B. M. Wittmann, A. D. Kennedy, C. Zweier, G. Vasileiou, G. N. Wilson, I. A. Alkhawaja, R. L. Sanchez Russo, T. Wirth, S. Syrbe, K. Platzer, S. Alyamani, F. Alkuraya, S. Pajusalu (2021). Mono- and bi-allelic variation of ABCA2 in individuals with different neurodevelopmental disorders. ASHG virtual meeting October 18-22, 2021. Cell press.
5.1.
2021
Kristi Rähn, Kai Muru, Sander Pajusalu, Eve Õiglane-Šlik, Katrin Õunap (2021). STAG1 gene heterozygous de novo variant in a patient with Angelman syndrome like phenotype. ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.1.
2021
Sanna Puusepp, Tiia Reimand, Chris Pruunsild, Nina Powell-Hamilton, Kari Magnussen, George Anadiotis, Katrin Õunap (2021). TNRC6A is a candidate gene for a phenotype with multisystem involvement. ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.1.
2021
Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert-Johnson, Sarah Mantia-Macklin, Kai Muru, Tiina Kahre, Katrin Õunap (2021). Phenotype of six families with AXIN2-oligodontia-colorectal cancer syndrome. Cleft palate as a new feature of this syndrome? ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.1.
2021
Sander Pajusalu, Sanna Puusepp, Karit Reinson, Kai Muru, Tiia Reimand, Monica H. Wojcik, Anne O'Donnell-Luria, Katrin Õunap (2021). Detection of mtDNA variants from short-read genome sequencing data: analysis of 55 families from a rare disease cohort. ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.1.
2021
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. M. Innes, Connie Stumpel, Katrin Ounap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine Zackai, Sarah Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Birgitta Bernhard, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra (2021). A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. ESHG 2021 virtual conference August 28-31. ESHG 2021 Abstract Library: cOASIS.
5.2.
2021
Paula-Johanna Viilop, Piret Ilisson, Olga Fjodorova, Pille Tammur, Tiia Reimand, Katrin Õunap (2021). Submikroskoopilisel kromosoomianalüüsil tuvastatud sagedasemad mikrodeletsioonid ja -duplikatsioonid Eesti lastel ajavahemikul 2011–2020. Eesti Arst, 100: Tartu Ülikooli arstiteaduskonna aastapäeva teaduskonverents 2021. OÜ Celsius Healthcare, 27. (Lisa 1).
5.2.
2021
Pajusalu, S.; Vals, M.-A.; Mihkla, L.; Šamarina, U.; Kahre, T.; Õunap, K. (2021). Estimated prevalence of congenital disorders of N-glycosylation across different populations based on allele frequencies in general population databases. SCIENTIFIC CDG SYMPOSIUM, VIRTUAL SYMPOSIUM 23-24 JUNE 2021. KU Leuven.
1.1.
2020
Pravata, Veronica M.; Gundogdu, Mehmet; Bartual, Sergio G.; Ferenbach, Andrew T.; Stavridis, Marios; Ounap, Katrin; Pajusalu, Sander; Zordania, Riina; Wojcik, Monica H.; van Aalten, Daan M. F. (2020). A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Letters, 594 (4), 717−727. DOI: 10.1002/1873-3468.13640.
1.1.
2020
Beck, David B; Petracovici, Ana; He, Chongsheng; Moore, Hannah W; Louie, Raymond J; Ansar, Muhammad; Douzgou, Sofia; Sithambaram, Sivagamy; Cottrell, Trudie; Santos-Cortez, Regie Lyn P; Prijoles, Eloise J; Bend, Renee; Keren, Boris; Mignot, Cyril; Nougues, Marie-Christine; Õunap, Katrin; Reimand, Tiia; Pajusalu, Sander; Zahid, Muhammad; Saqib, Muhammad Arif Nadeem ... Fahrner, Jill A (2020). Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. The American Journal of Human Genetics, 106 (2), 234−245. DOI: 10.1016/j.ajhg.2019.12.007.
1.1.
2020
Lillevali, Hardo; Pajusalu, Sander; Wojcik, Monica H.; Goodrich, Julia; Collins, Ryan L.; Murumets, Ulle; Tammur, Pille; Blau, Nenad; Lillevali, Kersti; Ounap, Katrin (2020). Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Molecular Genetics & Genomic Medicine, ARTN e1154. DOI: 10.1002/mgg3.1154.
1.1.
2020
Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, Kooy RF, Dallapiccola B, Sadikovic B, Tartaglia M. (2020). Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. Clinical Epigenetics, 12 (1), 7−7. DOI: 10.1186/s13148-019-0804-0.
1.1.
2020
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. (2020). De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European Journal of Human Genetics. DOI: 10.1038/s41431-020-0571-6.
1.1.
2020
Pravata VM, Omelková M, Stavridis MP, Desbiens CM, Stephen HM, Lefeber DJ, Gecz J, Gundogdu M, Õunap K, Joss S, Schwartz CE, Wells L, van Aalten DMF. (2020). An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. European Journal of Human Genetics. DOI: 10.1038/s41431-020-0589-9.
1.1.
2020
Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. (2020). Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genetics in Medicine. DOI: 10.1038/s41436-020-0767-8.
1.1.
2020
Woldegebriel R, Kvist J, Andersson N, Õunap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard MH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bönnemann CG, Maroofian R, O'Connor E, Houlden H, Zhao F, Carpén O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H. (2020). Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Human Molecular Genetics. DOI: 10.1093/hmg/ddaa051.
1.1.
2020
Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP. (2020). Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. American Journal of Medical Genetics Part A. DOI: 10.1002/ajmg.a.61907.
1.1.
2020
Reinson, Karit; Õunap, Katrin. (2020). Complex I deficiency and Leigh syndrome through the eyes of a clinician. EMBO Molecular Medicine, 12 (11), e13187.
1.1.
2020
Puusepp S, Reinson K, Pajusalu S, van Kuilenburg ABP, Dobritzsch D, Roelofsen J, Stenzel W, Õunap K. (2020). Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene. Molecular Genetics and Metabolism Reports, 25, 100677.
1.1.
2020
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. (2020). Monogenic variants in dystonia: an exome-wide sequencing study. The Lancet Neurology, 11, 908−918.
1.1.
2020
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown KE, Bruel AL, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon AS, Dyment DA, Engels H, Fisher R, Goh ES, Hajianpour MJ, Haertel LRM, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them FT, McDermott JH, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer KM, Russo M, Sadleir LG, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven AT, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A. (2020). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine.
1.1.
2020
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study, Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. (2020). Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Science Advances, 6 (49), eabc9207.
1.1.
2020
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics, Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. (2020). Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American Journal of Medical Genetics Part A.
1.1.
2020
Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. (2020). Regulatory landscape of providing information on newborn screening to parents across Europe. European Journal of Human Genetics.
1.1.
2020
Õunap, Katrin; Muru, Kai; Õiglane-Shlik, Eve; Ilves, Pilvi; Pajusalu, Sander; Kuus, Imbi; Wojcik, Monica H; Reimand, Tiia (2020). PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. European Journal of Medical Genetics, 63 (2), 103660. DOI: 10.1016/j.ejmg.2019.04.017.
1.3.
2020
Elis Tiivoja, Kai Muru, Pille Kool, Karit Reinson, Kristi Rähn, Katrin Õunap (2020). Pärilike ainevahetushaiguste diagnoosimise kokkuvõte ajavahemikul 1990–2017 TÜ Kliinikumi ühendlabori kliinilise geneetika keskuses. Eesti Arst, 99 (9), 537−545.
5.1.
2020
Konstantin Ridnõi, Kai Muru, Maria Keernik, Sander Pajusalu, Eva-Liina Ustav, Pille Tammur, Triin Mölter-Väär, Tiina Kahre, Ustina Šamarina, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap (2020). Prenatal diagnostics in Estonia: a 2-year prospective study assessing the performance of combined first-trimester screening, chromosomal microarray analysis, and next-generation sequencing. European Journal of Human Genetics, 28. Nature Publishing Group.
5.1.
2020
Katrin Õunap, Kaisa Teele Oja, Karit Reinson, Kai Muru, Tiia Reimand, Eleina M. England, Anne O’Donnell-Luria, Bryan M. Wittmann, Adam D. Kennedy, Sander Pajusalu (2020). The implementation of untargeted metabolomic analysis for the identification of new Mendelian disorders. American Journal of Human Genetics. Cell press.
5.1.
2020
Puusepp, S., Reinson, K., Pajusalu, S., van Kuilenburg, A. B. P., Dobritzsch, D., Stenzel, W., Õunap, K. (2020). A novel hemizygous loss-of-function variant in the PRPS1 gene found in a patient with features of Arts syndrome, but without hearing loss and normal levels of purine/ pyrimidine metabolites. European Journal of Human Genetics, 28. Nature Publishing Group.
5.1.
2020
Laura Roht, Sander Pajusalu, Ustina Šamarina, Tiina Kahre, Katrin Õunap (2020). The prevalence of MMR gene mutations in Estonian general population. European Journal of Human Genetics, 28. Nature Publishing Group.
5.1.
2020
Anaïs Begemann, Heinrich Sticht, Kirsty McWalter, Antonio Vitobello, Laurence Faivre, Bader Alhaddad, Siddharth Banka, Jessica Becker, Tatjana Bierhals, Kathleen Brown, Ange-Line Bruel, Theresa Brunet, Maryline Carneiro, Kirsten Cremer, Robert Day, Anne-Sophie Denommé-Pichon, Dave A. Dyment, Hartmut Engels, Rachel Fisher, Megan Glassford, Elaine S. Goh, MJ Hajianpour, Lucia Ribeiro Machado Haertel, Nadine Hauer, Maja Hempel, Theresia Herget, Cornelia Kraus, Gwenaël Le Guyader, Gaetan Lesca, Frédéric Tran Mau-Them, John Henry McDermott, Pierre Meyer, Katrin Õunap, Bernt Popp, Tiia Reimand, Korbinian M. Riedhammer, Martina Russo, Lynette Sadleir, Elisabeth Schuler, Gabriele Siegel, Steffen Syrbe, Amelie Theresa Van der Ven, Alain Verloes, Marjolaine Willems, Christiane Zweier, Katharina Steindl, Markus Zweier, Anita Rauch (2020). Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics. European Journal of Human Genetics, 28. Nature Publishing Group.
5.1.
2020
A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace, E. Miele, J. Kerkhof, E. Flex, S. Martinelli, F.C. Radio, C.A.L. Ruivenkamp, G.W.E. Santen, E. Bijlsma, D. Barge-Schaapveld, K. Õunap, V. Mok Siu, R.F. Kooy, B. Dallapiccola, B. Sadikovic, M. Tartaglia (2020). Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. European Journal of Human Genetics, 28. Nature Publishing Group.
5.2.
2020
Kaisa Teele Oja, Karit Reinson, Kai Muru, Tiia Reimand, Eleina England, Monica Wojcik, Anne O’Donnell-Luria, Bryan M. Wittmann, Adam D. Kennedy, Sander Pajusalu, Katrin Õunap (2020). Sihtmärgistamata metaboloomika analüüsi rakendamine uute pärilike monogeensete haiguste avastamiseks. Eesti Arst, 99. OÜ Celsius Healthcare, 16. (Lisa 2).
5.2.
2020
Laura Roht, Sander Pajusalu, Ustina Šamarina, Tiina Kahre, Jaan Soplepmann, Katrin Õunap (2020). MMR haigusseoseliste geenivariantide levimus Eesti üldpopulatsioonis. Eesti Arst, 99. OÜ Celsius Healthcare, 21. (Lisa 2).
5.2.
2020
Sandra Coppens, Sanna Puusepp, Katrin Õunap, Alison Barnard, Sandra Donkervoort, Reza Maroofian, Henry Houlden, Nicolas Deconinck, Fowzan Alkuraya, Hessa Alsaif, Erica Macke, Anna Lusakowska, Andreas Hahn, Volker Straub, Ana Töpf, Catheline Vilain, Marie Rivera-Zengotita, Carsten Bönnemann, Glenn Walter, Peter Kang (2020). A novel form of muscular dystrophy associated with mutations in JAG2. World Muscle Society Virtual Congress 28.09-02.10.2020. https://www.wms2020.com/: WMS Congress Ltd.
5.2.
2020
Puusepp, S., Reimand, T., Pajusalu, S., Bruels, C. C., Bönnemann, C. G., Chao, K. R., Coppens, S., Donkervoort, S., Goodrich, J. K., Kang, P. B., Mohassel, P., Pais, L. S., Siddique, T., Vargas-Franco D., Wojcik, M.H., Stenzel, W., Õunap, K. (2020). Progressive proximal muscle weakness, myopathic muscle biopsy and a novel candidate gene. World Muscle Society Virtual Congress 28.09-02.10.2020. https://www.wms2020.com/: WMS Congress Ltd.
1.1.
2019
Reinson, Karit; Kovacs-Nagy, Reka; Õiglane-Shlik, Eve; Pajusalu, Sander; Nõukas, Margit; Wintjes, Liesbeth T; van den Brandt, Frans C A; Brink, Maaike; Acker, Till; Ahting, Uwe; Hahn, Andreas; Schänzer, Anne; Haack, Tobias B; Rodenburg, Richard J; Õunap, Katrin (2019). Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. European Journal of Medical Genetics, 62 (11), UNSP 103572−103572. DOI: 10.1016/j.ejmg.2018.11.006.
1.1.
2019
Zweier, M.; Begemann, A.; McWalter, K.; Cho, M.T.; Abela, L.; Banka, S.; Behring, B.; Berger, A.; Brown, C.; Carneiro, M.; Chen, J.; Cooper, G.M.; Deciphering Developmental Disorders (DDD) Study, Finnila, C.R.; Guillen Sacoto, M.J.; Henderson, A.; Hüffmeier, U.; Joset, P.; Kerr, B.; Lesca, G.; Leszinski, G.S. ... Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European Journal of Human Genetics. DOI: 10.1038/s41431-018-0331-z.
1.1.
2019
Vals, M.-A.; Ashikov, A.; Ilves, P.; Loorits, D.; Zeng, Q.; Barone, R.; Huijben, K.; Sykut-Cegielska, J.; Diogo, L.; Elias, A.F.; Greenwood, R.S.; Grunewald, S.; van Hasselt, P.M.; van de Kamp, J.M.; Mancini, G.; Okninska, A.; Pajusalu, S.; Rudd, P.M.; Rustad, C.F.; Salvarinova, R. ... Õunap, K. (2019). Clinical, neuroradiological and biochemical features of SLC35A2-CDG patients. Journal of Inherited Metabolic Disease, 42 (3), 553−564. DOI: 10.1002/jimd.12055.
1.1.
2019
Ridnõi, K.; Šois, M.; Vaidla, E.; Pajusalu, S.; Kelder, L.; Reimand, T.; Õunap, K. (2019). A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Molecular Genetics & Genomic Medicine, 7 (5), UNSP e614. DOI: 10.1002/mgg3.614.
1.1.
2019
Lilleväli, Hardo; Reinson, Karit; Muru, Kai; Saarsalu, Siret; Künnapas, Kadi; Kahre, Tiina; Murumets, Ülle; Õunap, Katrin (2019). The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records. Molecular Genetics and Metabolism Reports, 19, 100467. DOI: 10.1016/j.ymgmr.2019.100467.
1.1.
2019
Muru, Kai; Reinson, Karit; Künnapas, Kadi; Lilleväli, Hardo; Nochi, Zahra; Mosegaard, Signe; Pajusalu, Sander; Olsen, Rikke K J; Õunap, Katrin (2019). FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Molecular Genetics & Genomic Medicine, 7 (9), e915−e915. DOI: 10.1002/mgg3.915.
1.1.
2019
Yakoreva, Maria; Kahre, Tiina; Žordania, Riina; Reinson, Karit; Teek, Rita; Tillmann, Vallo; Peet, Aleksandr; Õiglane-Shlik, Eve; Pajusalu, Sander; Murumets, Ülle; Vals, Mari-Anne; Mee, Pille; Wojcik, Monica H; Õunap, Katrin (2019). A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. European Journal of Human Genetics, 27 (11), 1649−1658. DOI: 10.1038/s41431-019-0446-x.
1.1.
2019
Konrad, Enrico D H; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E; Õunap, Katrin; Pajusalu, Sander; Wojcik, Monica H; Vasileiou, Georgia; Le Guyader, Gwenaël ... Zweier, Christiane (2019). CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genetics in Medicine. DOI: 10.1038/s41436-019-0585-z.
1.1.
2019
Altassan, R.; Péanne, R.; Jaeken, J.; Barone, R.; Bidet, M.; Borgel, D.; Brasil, S.; Cassiman, D.; Cechova, A.; Coman, D.; Corral, J.; Correia, J.; de la Morena-Barrio, M.E.; de Lonlay, P.; Dos Reis, V.; Ferreira, C.R.; Fiumara, A.; Francisco, R.; Freeze, H.; Funke, S. ... Morava, E. (2019). International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. Journal of Inherited Metabolic Disease, 42 (1), 5−28. DOI: 10.1002/jimd.12024.
1.1.
2019
Flex, Elisabetta; Martinelli, Simone; Van Dijck, Anke; Ciolfi, Andrea; Cecchetti, Serena; Coluzzi, Elisa; Pannone, Luca; Andreoli, Cristina; Radio, Francesca Clementina; Pizzi, Simone; Carpentieri, Giovanna; Bruselles, Alessandro; Catanzaro, Giuseppina; Pedace, Lucia; Miele, Evelina; Carcarino, Elena; Ge, Xiaoyan; Chijiwa, Chieko; Lewis, Me Suzanne; Meuwissen, Marije ... Tartaglia, Marco (2019). Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. The American Journal of Human Genetics, 105 (3), 493−508. DOI: 10.1016/j.ajhg.2019.07.007.
1.1.
2019
Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S; DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE. (2019). De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. The American Journal of Human Genetics, 105 (2), 403−412. DOI: 10.1016/j.ajhg.2019.06.007.
1.1.
2019
Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Õunap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M. (2019). Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. The American Journal of Human Genetics, 104 (5), 957−967. DOI: 10.1016/j.ajhg.2019.03.006.
1.1.
2019
Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT. (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet Journal of Rare Diseases, 14 (1), 86. DOI: 10.1186/s13023-019-1047-z.
1.2.
2019
Ilves N, Ilves P, Õunap K, Laugesaar R, Loorits D, Lintrop M, Männamaa M, Metsvaht T. (2019). Periventricular Venous Infarction in an Extremely Premature Infant as the Cause of Schizencephaly. Journal of Pediatric Neurology. DOI: 10.1055/s-0039-1697040.
1.3.
2019
Pajusalu, Sander; Õunap, Katrin (2019). Geneetika kliinilises meditsiinis nüüd ja tulevikus [Genetics in clinical medicine – present and tomorrow]. Eesti Arst, 98 (5), 270−276.
1.3.
2019
Õunap K. (2019). Klassikalise galaktoseemia kliiniline ravijuhend: diagnoosimine, ravi ja jälgimine. Eesti Arst, 98 (5), 298−301.
5.2.
2019
Tiivoja, E.; Reinson, K.; Muru, K.; Lilleväli, H.; Künnapas, K.; Rähn, K.; Õunap, K. (2019). Diagnoositud pärilike ainevahetushaiguste kokkuvõte Tartu Ülikooli Kliinikumi ühendlabori kliinilise geneetika keskuses. Eesti Arst, 98: Arstiteaduskonna aastapäev 2019, Tartu 10-11.10.2019. OÜ Celsius Healthcare, 14−14. (Lisa 3).
5.2.
2019
Õunap, Katrin; Muru, Kai; Künnapas, Kadi; Lilleväli, Hardo; Pajusalu, Sander; Olsen, Rikke K.J.; Reinson, Karit. (2019). The First Case of FLAD1 Associated Multiple Acyl-CoA Dehydrogenace Deficiency Identified by Newborn Screening. https://www.acmgmeeting.net/acmg2019/Public/Content.aspx?ID=2993&sortMenu=104000: ACMG Annual Clinical genetics meeting, Seattle USA, 2-6 aprill 2019. ACMG.
1.1.
2018
Pajusalu S, Kahre T, Roomere H, Murumets Ü, Roht L, Simenson K, Reimand T, Õunap K. (2018). Large Gene Panel Sequencing in Clinical Diagnostics - Results from 501 Consecutive Cases. Clinical Genetics, 93 (1), 78−83. DOI: 10.1111/cge.13031.
1.1.
2018
Brioude, F.; Kalish, J.M.; Mussa, A.; Foster, A.C.; Bliek, J.; Ferrero, G.B.; Boonen, S.E.; Cole, T.; Baker, R.; Bertoletti, M.; Cocchi, G.; Coze, C.; De Pellegrin, M.; Hussain, K.; Ibrahim, A.; Kilby, M.D.; Krajewska-Walasek, M.; Kratz, C.P.; Ladusans, E.J.; Lapunzina, P. ... Maher, E.R. (2018). Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nature Reviews Endocrinology, 14 (4), 229−249. DOI: 10.1038/nrendo.2017.166.
1.1.
2018
Hallas, T.; Eisen, B.; Shemer, Y.; Ben Jehuda, R.; Mekies, L.N.; Naor, S.; Schick, R.; Eliyahu, S.; Reiter, I.; Vlodavsky, E.; Katz, Y.S.; Õunap, K.; Lorber, A.; Rodenburg, R.; Mandel, H.; Gherghiceanu, M.; Binah, O. (2018). Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes. Journal of Cellular and Molecular Medicine, 22 (2), 913−925. DOI: 10.1111/jcmm.13392.
1.1.
2018
Puusepp, S.; Kovacs-Nagy, R.; Alhaddad, B.; Braunisch, M.; Hoffmann, G.F.; Kotzaeridou, U.; Lichvarova, L.; Liiv, M.; Makowski, C.; Mandel, M.; Meitinger, T.; Pajusalu, S.; Rodenburg, R.J.; Safiulina, D.; Strom, T.M.; Talvik, I.; Vaarmann, A.; Wilson, C.; Kaasik, A.; Haack, T.B. ... Õunap, K. (2018). Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. European Journal of Human Genetics, 407−419. DOI: 10.1038/s41431-017-0001-6.
1.1.
2018
Yakoreva, Maria; Kahre, Tiina; Pajusalu, Sander; Ilisson, Piret; Zilina, Olga; Tillmann, Vallo; Reimand, Tiia; Ounap, Katrin (2018). A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. Molecular Syndromology, 9 (4), 182−189. DOI: 10.1159/000489446.
1.1.
2018
Guissart, C.; Latypova, X.; Rollier, P.; Khan, T.N.; Stamberger, H.; McWalter, K.; Cho, M.T.; Kjaergaard, S.; Weckhuysen, S.; Lesca, G.; Besnard, T.; Õunap, K.; Schema, L.; Chiocchetti, A.G.; McDonald, M.; de Bellescize, J.; Vincent, M.; Van Esch, H.; Sattler, S.; Forghani, I. ... Küry, S. (2018). Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. The American Journal of Human Genetics, x−x. DOI: 10.1016/j.ajhg.2018.02.021.
1.1.
2018
Ridnõi, K.; Kurvinen, E.; Pajusalu, S.; Reimand, T.; Õunap, K. (2018). Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. Molecular Syndromology, 9 (4), 205−213. DOI: 10.1159/000490083.
1.1.
2018
Veri, K; Talvik, I; Vaher, U; Napa, A; Ilves, P; Uibo, O; Õiglane-Slik, E; Laugesaar, R; Rein, R; Kolk, A; Noormets, K; Reimand, T; Õunap, K; Talvik T. (2018). Incidence of Childhood Epilepsy in Estonia. Journal of Child Neurology, 33 (9), 587−592. DOI: 10.1177/0883073818776760.
1.1.
2018
Zagaglia, S.; Selch, C.; Nisevic, J.R.; Mei, D.; Michalak, Z.; Hernandez-Hernandez, L.; Krithika, S.; Vezyroglou, K.; Varadkar, S.M.; Pepler, A.; Biskup, S.; Leão, M.; Gärtner, J.; Merkenschlager, A.; Jaksch, M.; Møller, R.S.; Gardella, E.; Kristiansen, B.S.; Hansen, L.K.; Vari, M.S. ... Sisodiya, S.M. (2018). Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology, 91 (22), E2078−E2088. DOI: 10.1212/WNL.0000000000006567.
1.1.
2018
Basilicata, M.F.; Bruel, A.L.; Semplicio, G.; Valsecchi, C.I.K.; Aktaş, T.; Duffourd, Y.; Rumpf, T.; Morton, J.; Bache, I.; Szymanski, W.G.; Gilissen, C.; Vanakker, O.; Õunap, K.; Mittler, G.; van der Burgt, I.; El Chehadeh, S.; Cho, M.T.; Pfundt, R.; Tan, T.Y.; Kirchhoff, M. ... Akhtar, A. (2018). De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics, 50 (10), 1442−1451. DOI: 10.1038/s41588-018-0220-y.
1.1.
2018
van Vliet, D.; van Wegberg, A.M.J.; Ahring, K.; Bik-Multanowski, M.; Blau, N.; Bulut, F.D.; Casas, K.; Didycz, B.; Djordjevic, M.; Federico, A.; Feillet, F.; Gizewska, M.; Gramer, G.; Hertecant, J.L.; Hollak, C.E.M.; Jørgensen, J.V.; Karall, D.; Landau, Y.; Leuzzi, V.; Mathisen, P. ... van Spronsen, F.J. (2018). Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet Journal of Rare Diseases, 13 (1), 149. DOI: 10.1186/s13023-018-0890-7.
1.1.
2018
Bruun, T.U.J.; Sidky, S.; Bandeira, A.O.; Debray, F.G.; Ficicioglu, C.; Goldstein, J.; Joost, K.; Koeberl, D.D.; Luísa, D.; Nassogne, M.C.; O'Sullivan, S.; Õunap, K.; Schulze, A.; van Maldergem, L.; Salomons, G.S.; Mercimek-Andrews, S. (2018). Treatment outcome of creatine transporter deficiency: international retrospective cohort study. Metabolic Brain Disease, 33 (3), 875−884. DOI: 10.1007/s11011-018-0197-3.
1.1.
2018
Puusepp, Sanna; Reinson, Karit; Pajusalu, Sander; Murumets, Ülle; Õiglane-Shlik, Eve; Rein, Reet; Talvik, Inga; Rodenburg, Richard J; Õunap, Katrin (2018). Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia. Molecular Genetics and Metabolism Reports, 15, 80−89. DOI: 10.1016/j.ymgmr.2018.03.004.
1.1.
2018
Reinson, Karit; Künnapas, Kadi; Kriisa, Annika; Vals, Mari-Anne; Muru, Kai; Õunap, Katrin (2018). High incidence of low vitamin B12 levels in Estonian newborns. Molecular Genetics and Metabolism Reports, 15, 1−5. DOI: 10.1016/j.ymgmr.2017.11.002.
3.1.
2018
Vals, Mari-Anne; Pajusalu, Sander; Kals, Mart; Magi, Reedik; Ounap, Katrin (2018). The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients. In: JIMD REPORTS, VOL 39 (13−17). 06.07.2017 BERLIN: SPRINGER-VERLAG BERLIN. (39). DOI: 10.1007/8904_2017_41.
3.1.
2018
Lilleväli H.; Reinson K.; Muru K.; Simenson K.; Murumets Ü.; Möls T.; Õunap K. (2018). Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening. In: JIMD REPORTS, VOL 40 (39−45). BERLIN: SPRINGER-VERLAG BERLIN. (40). DOI: 10.1007/8904_2017_61.
1.1.
2017
Welling, L.; Bernstein, L.E.; Berry, G.T.; Burlina, A.B.; Eyskens, F.; Gautschi, M.; Grünewald, S.; Gubbels, C.S.; Knerr, I.; Labrune, P.; van der Lee, J.H.; MacDonald, A.; Murphy, E.; Portnoi, P.A.; Õunap, K.; Potter, N.L.; Rubio-Gozalbo, M.E.; Spencer, J.B.; Timmers, I.; Treacy, E.P. ... Galactosemia, Network. (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of Inherited Metabolic Disease, 40 (2), 171−176. DOI: 10.1007/s10545-016-9990-5.
1.1.
2017
Vals,M.-A.; Morava, E.; Teeäär, K.; Žordania, R.; Pajusalu, S.; Lefeber, D.; Õunap, K. (2017). Three families with mild PMM2-CDG and normal cognitive development. American Journal of Medical Genetics Part A, 173 (6), 1620−1624. DOI: 10.1002/ajmg.a.38235.
1.1.
2017
van Erven, B.; Berry, G.T.; Cassiman, D.; Connolly, G.; Forga, M.; Gautschi, M.; Gubbels, C.S.; Hollak, C.E.M.; Janssen, M.C.; Knerr, I.; Labrune, P.; Langendonk, J.G.; Õunap, K.; Thijs, A.; Vos, R.; Wortmann, S.B.; Rubio-Gozalbo, M.E. (2017). Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertility and Sterility, 108 (1), 168−174. DOI: 10.1016/j.fertnstert.2017.05.013.
1.1.
2017
Pronicka, E.; Ropacka-Lesiak, M.; Trubicka, J.; Pajdowska, M.; Linke, M.; Ostergaard, E.; Saunders, C.; Horsch, S.; van Karnebeek, C.; Yaplito-Lee, J.; Distelmaier, F.; Õunap, K.; Rahman, S.; Castelle, M.; Kelleher, J.; Baris, S.; Iwanicka-Pronicka, K.; Steward, C.G.; Ciara, E.; Wortmann, S.B. (2017). A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. Journal of Inherited Metabolic Disease, 40 (6), 853−860. DOI: 10.1007/s10545-017-0057-z.
1.1.
2017
Hamdan, F.F.; Myers, C.T.; Cossette, P.; Lemay, P.; Spiegelman, D.; Laporte, A.D.; Nassif, C.; Diallo, O.; Monlong, J.; Cadieux-Dion, M.; Dobrzeniecka, S.; Meloche, C.; Retterer, K.; Cho, M.T.; Rosenfeld, J.A.; Bi, W.; Massicotte, C.; Miguet, M.; Brunga, L.; Regan, B.M. ... Michaud, J.L. (2017). High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. The American Journal of Human Genetics, 101 (5), 664−685. DOI: 10.1016/j.ajhg.2017.09.008.
1.3.
2017
Yakoreva, Maria; Vals, Mari-Anne; Kahre, Tiina; Õunap, Katrin (2017). Vermimishäired: kirjanduse ülevaade ja haigusjuhtude kirjeldus [Imprinting disorders: a literature review and presentation of cases]. Eesti Arst, 96(1), 22−35.
1.1.
2016
Koolen, D.A.; Pfundt, R.; Linda, K.; Beunders, G.; Veenstra-Knol, H.E.; Conta, J.H.; Fortuna, A.M.; Gillessen-Kaesbach, G.; Dugan, S.; Halbach, S.; Abdul-Rahman, O.A.; Winesett, H.M.; Chung, W.K.; Dalton, M.; Dimova, P.S.; Mattina, T.; Prescott, K.; Zhang, H.Z.; Saal, H.M.; Hehir-Kwa, J.Y. ... de Vries, B.B. (2016). The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics, 24 (5), 652−659. DOI: 10.1038/ejhg.2015.178.
1.1.
2016
Leffler, Melanie; Puusepp, Sanna; Žilina, Olga; Zhu, Ying; Kuuse, Kati; Bain, Nicole; Burgess, Trent; Õunap, Katrin; Field, Michael (2016). Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R. European Journal of Medical Genetics, 59 (4), 257−262. DOI: 10.1016/j.ejmg.2015.12.002.
1.1.
2016
La Piana, R; Cayami, FK; Tran, LT; Guerrero, K; van Spaendonk, R; Õunap, K; Pajusalu, S; Haack, T; Wassmer, E; Timmann, D; Mierzewska, H; Poll-Thé, BT; Patel, C; Cox, H; Atik, T; Onay, H; Ozkınay, F; Vanderver, A; van der Knaap, MS; Wolf, NI ... Bernard, G (2016). Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology, 86 (17), 1622−1626. DOI: 10.1212/WNL.0000000000002612.
1.1.
2016
Õunap; K. (2016). Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Molecular Syndromology, 7, 110−121.
1.1.
2016
Thompson, Kyle; Majd, Homa; Dallabona, Christina; Reinson, Karit; King, Martin S.; Alston, Charlotte L.; He, Langping; Lodi, Tiziana; Jones, Simon A.; Fattal-Valevski, Aviva; Fraenkel, Nitay D.; Saada, Ann; Chaham, Alon; Isohanni, Pirjo; Vara, Roshni; Barbosa, Inês A.; Simpson, Michael A.; Deshpande, Charu; Puusepp, Sanna; Bonnen, Penelope E. ... Taylor, Robert W. (2016). Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. The American Journal of Human Genetics, 99 (4), 860−876. DOI: 10.1016/j.ajhg.2016.08.014.
1.1.
2016
Jenkinson, E.M.; Rodero, M.P.; Kasher, P.R.; Uggenti, C.; Oojageer, A.; Goosey, L.C.; Rose, Y.; Kershaw, C.J.; Urquhart, J.E.; Williams, S.G.; Bhaskar, S.S.; O'Sullivan, J.; Baerlocher, G.M.; Haubitz, M.; Aubert, G.; Barañano, K.W.; Barnicoat, A.J.; Battini, R.; Berger, A.; Blair, E.M. ... Crow, Y.J. (2016). Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature Genetics, 48, 1185−1192. DOI: 10.1038/ng.3661.
1.1.
2016
Õunap, K.; Pajusalu, S.; Zilina, O.; Reimand, T.; Žordania, R. (2016). An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. Clinical Case Reports, 4 (8), 824−830. DOI: 10.1002/ccr3.632.
1.1.
2016
D'Angelo, Debra; Lebon, Sébastien; Chen, Qixuan; Martin-Brevet, Sandra; Snyder, LeeAnne Green; Hippolyte, Loyse; Hanson, Ellen; Maillard, Anne M; Faucett, W Andrew; Macé, Aurélien; Pain, Aurélie; Bernier, Raphael; Chawner, Samuel J R A; David, Albert; Andrieux, Joris; Aylward, Elizabeth; Baujat, Genevieve; Caldeira, Ines; Conus, Philippe; Ferrari, Carrina ... , (2016). Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry, 73 (1), 20−30. DOI: 10.1001/jamapsychiatry.2015.2123.
1.1.
2016
Reinson, Karit; Õiglane-Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin (2016). Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. American Journal of Medical Genetics Part A, 170 (8), 2173−2176. DOI: 10.1002/ajmg.a.37678.
1.1.
2016
Lilles, Stella; Talvik, Inga; Noormets, Klari; Vaher, Ulvi; Õunap, Katrin; Reimand, Tiia; Sander, Valentin; Ilves, Pilvi; Talvik, Tiina (2016). CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics, 47 (6), 361−367. DOI: 10.1055/s-0036-1586730.
1.1.
2016
Pajusalu, S.; Talvik, I.; Noormets, K.; Talvik, T.; Põder, H.; Joost, K.; Puusepp, S.; Piirsoo, A.; Stenzel, W.; Goebel, HH.; Nikopensius, T.; Annilo, T.; Nõukas, M.; Metspalu, A.; Õunap, K.; Reimand, T. (2016). De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion. Neuromuscular Disorders, 26 (3), 236−239. DOI: 10.1016/j.nmd.2015.11.011.
1.2.
2016
Reinson, K; Õunap, K. (2016). Ocular Manifestation of CACNA1A Pathogenic Variants. Pediatric Neurology Briefs, 30 (12), 46.
1.3.
2016
Reinson, Karit; Ilo, Ursula; Künnapas, Kadi; Vals, Mari-Anne, Muru, Kai; Kriisa, Annika; Õunap, Katrin. (2016). Vastsündinute laiendatud sõeluurimise juurutamine Eestis 19 kaasasündinud ainevahetushaiguse suhtes: esimese 1,5 aasta tulemuste kokkuvõte. Eesti Arst, 95 (8), 506−514.
1.1.
2015
Vals, Mari-Anne; Yakoreva, Maria; Kahre, Tiina; Mee, Pille; Muru, Kai; Joost, Kairit; Teek, Rita; Soellner, Lukas; Eggermann, Thomas; Õunap, Katrin. (2015). The frequency of methylation abnormalities among Estonian patients selected by clinical diagnostic scoring systems for Silver-Russell syndrome and Beckwith-Wiedemann syndrome. Genetic Testing and Molecular Biomarkers, 19 (12), 684−691. DOI: 10.1089/gtmb.2015.0163.
1.1.
2015
Brookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.B.; Field, M.; Schwartz, C.E.; Gecz, J.; Shi, Y. (2015). Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. Human Molecular Genetics, 24 (10), 2861−2872. DOI: 10.1093/hmg/ddv046.
1.1.
2015
Pajusalu, Sander; Žilina, Olga; Yakoreva, Maria; Tammur, Pille; Kuuse, Kati; Mölter-Väär, Triin; Nõukas, Margit; Reimand, Tiia; Õunap, Katrin (2015). The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity. Molecular Syndromology, 6, 134−139. DOI: 10.1159/000438776.
1.1.
2015
Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C.; Harewood, Louise; Kosmicki, Jack A.; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M.; Alfaiz, Ali Abdullah; van Haelst, Mieke M.; Andrieux, Joris; Gusella, James F.; Daly, Mark J.; Beckmann, Jacques S.; Jacquemont, Sebastien; Talkowski, Michael E.; Katsanis, Nicholas ... Reymond, Alexandre (2015). A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. The American Journal of Human Genetics, 96 (5), 784−796. DOI: 10.1016/j.ajhg.2015.04.002.
1.1.
2015
Pajusalu, Sander; Reimand, Tiia; Uibo, Oivi; Vasar, Maire; Talvik, Inga; Žilina, Olga; Tammur, Pille; Õunap, Katrin (2015). De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis. European Journal of Medical Genetics, 58, 336−340. DOI: 10.1016/j.ejmg.2015.04.002.
1.1.
2015
Pajusalu, Sander; Reimand, Tiia; Õunap, Katrin (2015). Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome. American Journal of Medical Genetics Part A, 167 (8), 1913−1915. DOI: 10.1002/ajmg.a.37105.
1.1.
2015
Wortmann, Saskia; Ziętkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias; Gersting, Søren; Muntau, Ania; Rakovic, Aleksandar; Renkema, Herma; Rodenburg, Richard; Strom, Tim; Meitinger, Thomas; Rubio-Gozalbo, Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop; van-Karnebeek, Clara; Lillquist, Yolanda; Lücke, Thomas ... Wevers, Ron. (2015). CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. The American Journal of Human Genetics, 96 (2), 245−257. DOI: 10.1016/j.ajhg.2014.12.013.
1.1.
2015
Vals, M.-A.; Kahre, T.; Mee, P.; Muru, K.; Kallas, E.; Žilina, O.; Tillmann, V.; Õunap, K. (2015). Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes. Molecular Syndromology, 6 (3), 147−151. DOI: 10.1159/000437061.
1.3.
2015
Laidre, Piret; Soplepmann, Jaan; Uibo, Oivi; Raime, Kairi; Yakoreva, Maria; Mirka, Gerli; Roomere, Hanno; Õunap, Katrin. (2015). Perekondlik adenomatoosne polüpoos: ülevaade ja ühe perekonna haigusjuht. Eesti Arst, 94 (1), 38−43.
1.3.
2015
Õunap, Katrin. (2015). Geneetikast ja geneetilisest testimisest meditsiinigeneetiku pilgu läbi. Eesti Arst, 94 (4), 211−216.
1.1.
2014
Reinthaler, E.M.; Lal, D.; Lebon, S.; Hildebrand, M.S.; Dahl, H.H.; Regan, B.M.; Feucht, M.; Steinböck, H.; Neophytou, B.; Ronen, G.M.; Roche, L.; Gruber-Sedlmayr, U.; Geldner, J.; Haberlandt, E.; Hoffmann, P.; Herms, S.; Gieger, C.; Waldenberger, M.; Franke, A.; Wittig, M. ... Neubauer, B.A. (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human Molecular Genetics, 23 (22), 6069−6080. DOI: 10.1093/hmg/ddu306.
1.1.
2014
Dallabona, C.; Diodato, D.; Kevelam, S.H.; Haack, T.B.; Wong, L.J.; Salomons, G.S.; Baruffini, E.; Melchionda, L.; Mariotti, C.; Strom, T.M.; Meitinger, T.; Prokisch, H.; Chapman, K.; Colley, A.; Rocha, H.; Ounap, K.; Schiffmann, R.; Salsano, E.; Savoiardo, M.; Hamilton, E.M. ... van der Knaap, M.S. (2014). Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology, 82 (23), 2063−2071.
1.1.
2014
Žilina, O.; Kahre, T.; Talvik, I.; Õiglane-Shlik, E.; Tillmann, V.; Õunap, K. (2014). Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome. European Journal of Medical Genetics, 57 (6), 279−283. DOI: 10.1016/j.ejmg.2014.03.007.
1.1.
2014
Grotto, S.; Drouin-Garraud, V.; Ounap, K.; Puusepp-Benazzouz, H.; Schuurs-Hoeijmakers, J.; Le Meur, N.; Chambon, P.; Fehrenbach, S.; van Bokhoven, H.; Frébourg, T.; de Brouwer, A.P.; Saugier-Veber, P. (2014). Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. European Journal of Medical Genetics, 57 (5), 200−206.
1.1.
2014
Õiglane-Shlik, E.; Puusepp, S.; Talvik, I.; Vaher, U.; Rein, R.; Tammur, P.; Reimand, T.; Teek, R.; Žilina, O.; Tomberg, T.; Õunap, K. (2014). Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities. European Journal of Paediatric Neurology, 18 (3), 338−346. DOI: 10.1016/j.ejpn.2014.01.008.
1.1.
2014
Livingston, J.H.; Mayer, J.; Jenkinson, E.; Kasher, P.; Stivaros, S.; Berger, A.; Cordelli, D.M.; Ferreira, P.; Jefferson, R.; Kutschke, G.; Lundberg, S.; Õunap, K.; Prabhakar, P.; Soh, C.; Stewart, H.; Stone, J.; van der Knaap, M.S.; van Esch, H.; van Mol, C.; Wakeling, E. ... Crow, Y.J. (2014). Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus. Neuropediatrics, 45 (3), 175−182. DOI: 10.1055/s-0033-1364180.
1.1.
2014
Simenson, K.; Õiglane-Shlik, E.; Teek, R.; Kuuse, K.; Õunap, K. (2014). A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region. American Journal of Medical Genetics Part A, 164 (3), 806−809. DOI: 10.1002/ajmg.a.36358.
1.1.
2014
Vanmarsenille, L.; Giannandrea, M.; Fieremans, N.; Verbeeck, J.; Belet, S.; Raynaud, M.; Vogels, A.; Männik, K.; Õunap, K.; Jacqueline, V.; Briault, S.; Van Esch, H.; D'Adamo, P.; Froyen, G. (2014). Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains. Human Mutation, 35 (3), 377−383. DOI: 10.1002/humu.22497.
1.1.
2014
Vaher, Ulvi; Nõukas, Margit; Nikopensius, Tiit; Kals, Mart; Annilo, Tarmo; Nelis, Mari; Õunap, Katrin; Reimand, Tiia; Talvik, Inga; Ilves, Pilvi; Piirsoo, Andres; Seppet, Enn; Metspalu, Andres; Talvik, Tiina (2014). De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders. Journal of Child Neurology, 29 (12), 202−206. DOI: 10.1177/0883073813511300.
1.1.
2014
Vals, Mari-Anne; Õiglane-Shlik, Eve; Nõukas, Margit; Shor, Riina; Peet, Aleksandr; Kals, Mart; Kivistik, Paula Ann; Metspalu, Andres; Õunap, Katrin (2014). Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. European Journal of Human Genetics, 22 (11), 1327−1329. DOI: 10.1038/ejhg.2014.25.
1.2.
2014
Žilina, O.; Teek, R.; Tammur, P.; Kuuse, K.; Yakoreva, M.; Vaidla, E.; Mölter-Väär, T.; Reimand, T.; Kurg, A.; Õunap, K. (2014). Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience. Molecular Genetics & Genomic Medicine, 2 (2), 166−175. DOI: 10.1002/mgg3.57.
1.1.
2013
Teek, R.; Kruustük, K.; Žordania, R.; Joost, K.; Kahre, T.; Tõnisson, N.; Nelis, M.; Zilina, O.; Tranebjaerg, L.; Reimand, T.; Õunap, K. (2013). Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients. Advances in Medical Sciences, 58 (2), 419−428. DOI: 10.2478/ams-2013-0001.
1.1.
2013
van de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grünewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M.A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M. ... Salomons, G.S. (2013). Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of Medical Genetics, 50 (7), 463−472. DOI: 10.1136/jmedgenet-2013-101658.
1.1.
2013
Žilina, O.; Reimand, T.; Tammur, P.; Tillmann, V.; Kurg, A.; Õunap, K. (2013). Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature. European Journal of Medical Genetics, 56 (4), 202−206. DOI: 10.1016/j.ejmg.2013.01.008.
1.1.
2012
Zufferey, F.; Sherr, E.H.; Beckmann, N.D.; Hanson, E.; Maillard, A.M.; Hippolyte, L.; Macé, A.; Ferrari, C.; Kutalik, Z.; Andrieux, J.; Aylward, E.; Barker, M.; Bernier, R.; Bouquillon, S.; Conus, P.; Delobel, B.; Faucett, W.A.; Goin-Kochel, R.P.; Grant, E.; Harewood, L. ... 16p11.2 European, Consortium (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics, 49 (10), 660−668. DOI: 10.1136/jmedgenet-2012-101203.
1.1.
2012
Betsalel, O.T.; Pop, A.; Rosenberg, E.H.; Fernandez-Ojeda, M.; van Esch, H.; Nassogne, M.C.; Sznajer, Y.; Mercimek-Mahmutoglu, S.; Ounap, K.; Cheillan, D.; Lion-Francois, L.; Pitelet, G.; Munnich, A.; Quijano-Roy, S.; Valayannopoulos, V.; Burkhard, S.; Gebhardt, B.R.; Moog, U.; Muecke, J.; Poggenburg, I. ... Salomons, G.S. (2012). Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. Molecular Genetics and Metabolism, 105 (4), 596−601.
1.1.
2012
Joost, K.; Rodenburg, R.J.; Piirsoo, A.; van den Heuvel, L.; Žordania, R.; Põder, H.; Talvik, I.; Kilk, K.; Soomets, U.; Õunap, K. (2012). A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children. Molecular Syndromology, 3 (3), 113−119. DOI: 10.1159/000341375.
1.1.
2012
Anderson, B.H.; Kasher, P.R.; Mayer, J.; Szynkiewicz, M.; Jenkinson, E.M.; Bhaskar, S.S.; Urquhart, J.E.; Daly, S.B.; Dickerson, J.E.; O'Sullivan, J.; Leibundgut, E.O.; Muter, J.; Abdel-Salem, G.M.; Babul-Hirji, R.; Baxter, P.; Berger, A.; Bonafé, L.; Brunstom-Hernandez, J.E.; Buckard, J.A.; Chitayat, D. ... Crow, Y.J. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44 (3), 338−342. DOI: 10.1038/ng.1084.
1.1.
2012
Õunap, K.; Puusepp-Benazzouz, H.; Peters, M.; Vaher, U.; Rein, R:; Proos, A:; Field, M.; Reimand, T. (2012). A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability. European Journal of Medical Genetics, 55 (3), 178−184. DOI: 10.1016/j.ejmg.2012.01.004.
1.1.
2012
Krabbi, K.; Joost, K.; Zordania, R.; Talvik, I.; Rein, R.; Huijmans, J. G. M.; Verheijen, F. V.; Õunap, K (2012). The live-birth prevalence of mucopolysaccharidoses in Estonia. Genetic Testing and Molecular Biomarkers, 16 (8), 846−849. DOI: 10.1089/gtmb.2011.0307.
1.1.
2012
Joost, K.; Õunap, K.; Žordania, R.; Uudelepp, M.-L.; Olsen, R.K.; Kall, K.; Kilk, K.; Soomets, U.; Kahre, T. (2012). Prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Estonia. JIMD Reports, 2, 79−85.
1.1.
2012
Žilina, Olga; Reimand, Tiia; Zjablovskaja, Polina; Männik, Katrin; Männamaa, Mairi; Traat, Aili; Puusepp-Benazzouz, Helen; Kurg, Ants; Õunap, Katrin (2012). Maternally and Paternally Inherited Deletion of 7q31 Involving the FOXP2 Gene in Two Families. American Journal of Medical Genetics Part A, 158A (1), 254−256. DOI: 10.1002/ajmg.a.34378.
1.1.
2011
Otto, EA; Ramaswami, G; Janssen, S; Chaki, M; Allen, SJ; Zhou, W; Airik, R; Hurd, TW; Ghosh, AK; Wolf, MT; Hoppe, B; Neuhaus, TJ; Bockenhauer, D; Milford, DV; Soliman, NA; Antignac, C; Saunier, S; Johnson, CA; Hildebrandt, F. GPN Study Group: Bergmann, C; Zerres, K ... Bitzan, M. (2011). Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of Medical Genetics, 48 (2), 105−116.
1.1.
2011
Mitter, D; Ullmann, R; Muradyan, A; Klein-Hitpass, L; Kanber, D; Õunap, K; Kaulisch, M; Lohmann, D. (2011). Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. European Journal of Human Genetics, 19 (9), 947−958.
1.1.
2011
Jurecka, A; Piotrowska, E; Cimbalistiene, L; Gusina, N; Sobczynska, A; Czartoryska, B; Czerska, K; Õunap, K; Wegrzyn, G; Tylki-Szymanska, A. (2011). Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Molecular Genetics and Metabolism, 105 (1), 237−243. DOI: 10.1016/j.ymgme.2011.11.003.
1.1.
2011
Achouitar, S.; Mohamed, M.; Gardeitchik, T.; Wortmann, S.B.; Sykut-Cegielska, J.; Ensenauer, R.; de Baulny, H.O.; Õunap, K.; Martinelli, D.; de Vries, M.; McFarland, R.; Kouwenberg, D.; Theodore, M.; Wijburg, F.; Grünewald, S.; Jaeken, J.; Wevers, R.A.; Nijtmans, L.; Elson, J.; Morava, E. (2011). Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. Journal of Inherited Metabolic Disease, 34 (4), 923−927.
1.1.
2011
Suomalainen, A.; Elo, J.M.; Pietiläinen, K.H.; Hakonen, A.H.; Sevastianova, K.; Korpela, M.; Isohanni, P.; Marjavaara, S.K.; Tyni, T.; Kiuru-Enari, S.; Pihko, H.; Darin, N.; Ounap, K.; Kluijtmans, L.A.; Paetau, A.; Buzkova, J.; Bindoff, L.A.; Annunen-Rasila, J.; Uusimaa, J.; Rissanen, A. ... Tyynismaa, H. (2011). FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. The Lancet Neurology, 10 (9), 806−818.
1.1.
2011
Männik, K; Parkel, S; Palta, P; Zilina, O; Puusepp, H; Esko, T; Mägi, R; Nõukas, M; Veidenberg, A; Nelis, M; Metspalu, A; Remm, M; Ounap, K; Kurg, A. (2011). A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia. European Journal of Medical Genetics, 54 (2), 136−143.
1.1.
2011
Krabbi, K.; Uudelepp, M.-L.; Joost, K.; Zordania, R.; Õunap, K. (2011). Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control. Molecular Genetics and Metabolism, 103 (3), 249−253. DOI: 10.1016/j.ymgme.2011.03.023.
1.1.
2011
Joost, K.; Tammur, P.; Teek, R.; Žilina, O.; Peters, M.; Kreile, M.; Lace, B.; Žordania, R.; Talvik, I.; Õunap, K. (2011). Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency. Molecular Syndromology, 1 (6), 311−315. DOI: 10.1159/000331323.
1.2.
2011
Muru, K.; Kalev, I.;Teek, R.; Sõnajalg, M.; Kuuse, K.; Reimand, T.; Õunap, K. (2011). A boy with Holt-Oram syndrome caused by novel mutation c.1304delT in the TBX5 gene. Molecular Syndromology, 1 (6), 307−310. DOI: 10.1159/000330109.
1.1.
2010
Oitmaa, E.; Peters, M.; Vaidla, K.; Andreson, R.; Mägi, R.; Slavin, G.; Velthut, .; Tõnisson, N.; Reimand, T.; Remm, M.; Schneider, M.; Õunap, K.; Salumets, A.; Metspalu, A. (2010). Molecular diagnosis of Down Syndrome using Quantitative APEX-2 microarrays. Prenatal Diagnosis, 30, 1170−1177. DOI: 10.1002/pd.2639.
1.1.
2010
Teek, R.; Kruustük, K.; Zordania, R.; Joost, K.; Reimand, T.; Möls, T.; Oitmaa, E.; Kahre, T.; Tõnisson, N.; Õunap, K. (2010). Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. International Journal of Pediatric Otorhinolaryngology, 74 (9), 1007−1012. DOI: 10.1016/j.ijporl.2010.05.026.
1.1.
2010
Joost, K; Rodenburg, R; Piirsoo, A; van den Heuvel, B; Zordania, R; Ounap, K. (2010). A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. Pediatric Neurology, 42 (3), 227−230. DOI: 10.1016/j.pediatrneurol.2009.10.004.
1.1.
2010
Õunap, K.; Joost, K.; Temberg, T.; Krabbi, K.; Tõnisson, N. (2010). Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients. Journal of Inherited Metabolic Disease, 33 (2), 175−176. DOI: 10.1007/s10545-010-9045-2.
1.1.
2010
Walters, R. G.; Jacquemont, S.; Valsesia, A.; de Smith, A. J.; Martinet, D.; Andersson, J.; Falchi, M.; Chen, F.; Andrieux, J.; Lobbens, S.; Delobel, B.; Stutzmann, F.; El-Sayed Moustafa, J. S.; Chèvre, J.-C.; Lecoeur, C.; Vatin, V.; Bouquillon, S.; Buxton, J. L.; Boute, O.; Holder-Espinasse, M. ... Beckmann, J. S. (2010). A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature, 463 (7281), 671−675. DOI: 10.1038/nature08727.
1.1.
2010
Kalev, I., Muru, K., Teek, R., Zordania, R., Reimand, T., Köbas, K., Õunap, K. (2010). LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. European Journal of Pediatrics, 169 (4), 469−473. DOI: 10.1007/s00431-009-1058-1.
1.2.
2010
Muru, Kai; Sitska, Mari; Asser, Karin; Ehrenberg, Aivar; Karro, Helle; Õunap, Katrin; Reimand, Tiia (2010). Prospective experience with contingent screening strategy for Down syndrome in Estonia. Journal of Community Genetics, 1 (3), 133−138. DOI: 10.1007/s12687-010-0020-2.
1.3.
2010
Teek, R.; Kruustük, K.; Žordania, R.; Joost, K.; Reimand, T.; Oitmaa, E.; Nelis, M.; Žilina, O.; Kahre, T.; Tõnisson, N.; Õunap, K. (2010). Kuulmislanguse geneetilised põhjused Eesti lastel ning leitud genotüübi ja fenotüübi omavaheline võrdlus [Genetic causes of hearing loss among Estonian children and their genotypephenotype correlation]. Eesti Arst, 89 (12), 781−789.
1.1.
2009
van Bon, BW; Mefford, HC; Menten, B; Koolen, DA; Sharp, AJ; Nillesen, WM; Innis, JW; de Ravel, TJ; Mercer, CL; Fichera, M; Stewart, H; Connell, LE; Ounap, K; Castle, B; Van der Aa, N; van Ravenswaaij, C; Nobrega, MA; Serra-Juhé, C; Simonic, I; de Leeuw, N ... de Vries, BB. (2009). Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics, 511−523.
1.1.
2009
Puusepp, H.; Zilina, O.; Teek, R.; Männik, K.; Parkel, S.; Kruustük, K.; Kuuse, K.; Kurg, A.; Ounap, K. (2009). 5.9Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. European Journal of Medical Genetics, 52 (1), 71−74.
1.1.
2009
Bartholdi, D.; Krajewska-Walasek, M.; Ounap, K.; Gaspar, H.; Chrzanowska, K.; Ilyana, H.; Kayserili, H.; Lurie, I.; Schinzel, A.; Baumer, A. (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46 (3), 192−197. DOI: 10.1136/jmg.2008.061820.
1.1.
2009
Teek, R.; Oitmaa, E.; Kruustük, K.; Zordania, R.; Joost, K.; Raukas, E.; Tõnisson, N.; Gardner, P.; Schrijver, I.; Kull, M.; Õunap, K. (2009). Splice variant IVS2-2A >G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. International Journal of Pediatric Otorhinolaryngology, 103−107. DOI: 10.1016/j.ijporl.2008.10.003.
1.3.
2009
Tigane, Tiiu-Liis; Laidre, Piret; Joost, Kairit; Tõnisson, Neeme; Mikita, Valdur; Õunap, Katrin, Žordania, Riina (2009). Päriliku rinna- ja munasarjavähiga patsientide geneetilise konsulteerimise ja jälgimise juhend. Eesti Arst, 88, 11, 756−760.
1.1.
2008
Puusepp, H.; Zordania, R.; Paal, M.; Bartsch, O.; Ounap, K. (2008). Girl with partial Turner syndrome and absence epilepsy. Pediatric Neurology, 38 (4), 289−292. DOI: 10.1016/j.pediatrneurol.2007.11.008.
1.1.
2008
Puusepp, H.; Kahre, T.; Sibul, H.; Soo, V.; Lind, I.; Raukas, E.; Õunap, K. (2008). Prevalence of the Fragile X Syndrome Among Estonian Mentally Retarded and the Entire Children's population. Journal of Child Neurology, 23 (12), 1400−1405. DOI: 10.1177/0883073808319071.
1.3.
2008
Muru, K.; Virro, S.; Õunap, K.; Kalev, I. (2008). Kaasasündinud südamerikete geneetilised põhjused [Genetic reasons of congenital heart defects]. Eesti Arst, 87 (5), 357−366.
1.3.
2008
Puusepp, H.; Rein, R.; Žordania, R.; Kurvinen, E.; Jakovlev, Ü.; Õunap, K. (2008). Fragiilse X-i sündroom Eestis: patsientide ja premutatsiooni kandjate kliinilised ja sotsiaalsed probleemid. Eesti Arst, 500−509.
1.3.
2008
Joost, K.; Kilk, K.; Toome, L.; Soomets, U.; Õunap, K.; Žordania, R. (2008). Pika ahelaga rasvhapete oksüdatsiooni defekt imikul : haigusjuhu kirjeldus. Eesti Arst, 4, 274−279.
1.3.
2007
Teek, Rita; Raukas, Elve; Oitma, Eneli; Kruustük, Katrin; Žordania, Riina; Joost, Kairit; Kull, Mart; Õunap, Katrin (2007). Pärilik ehk geneetiline kuulmislangus. Eesti Arst, 86 (4), 254−261.
1.3.
2007
Puusepp, H.; Männik, K.; Zilina, O.; Parkel, S.; Kurg, A.; Õunap, K. (2007). Vaimse arengu mahajäämuse geneetilsed põhjused: X-liiteline vaimse arengu mahajäämus. Eesti Arst, 86 (4), 239−245.
1.3.
2007
Õiglane-Šlik E., Muug K., Lunge K., Napa A., Talvik T., Õunap K. (2007). Angelmani ja Praderi-Willi sündroom – lühiülevaade ja kliinilise fenotüübi iseärasused Eestis. Eesti Arst, 86 (5), 307−315.
1.1.
2006
Reimand, T.; Õunap, K.; Zordania, R.; Ilus, T.; Uibo, O.; Sitska, M.; Talvik, T. (2006). Descriptive epidemiology of Down syndrome in Estonia. Paediatric and Perinatal Epidemiology, 20 (6), 512−519.
1.1.
2006
Weimer, J.; Metzke-Heidemann, S.; Plendl, H.; Caliebe, A.; Grunewald, R.; Õunap, K.; Tammur, P.; Jonat, W.; Bartsch, O.; Siebert, R.; Arnold, N. (2006). Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay. American Journal of Medical Genetics Part A, 140A (5), 488−495.
1.1.
2006
Õiglane-Shlik, E.; Talvik, T.; Zordania, R.; Põder, H.; Kahre, T.; Raukas, E.; Ilus, T.; Tasa, G.; Bartsch, O.; Väisänen, M.-L.; Õunap, K. (2006). Prevalence of Angelman Syndrome and Prader–Willi Syndrome in Estonian Children: Sister Syndromes Not Equally Represented. American Journal of Medical Genetics Part A, 140A (18), 1936−1943.
1.1.
2006
Oiglane-Shlik, E.; Zordania, R.; Varendi, H.; Antson, A.; Mägi, M.; Tasa, G.; Bartsch, O.; Talvik, T.; Õunap, K. (2006). The neonatal phenotype of Prader-Willi syndrome. American Journal of Medical Genetics, 140A (11), 1241−1244.
1.3.
2006
Reimand, T.; Uibo, O.; Zordania, R.; Ilus, T.; Õunap, K.; Sitska, M.; Talvik, T. (2006). Downi sündroom Eestis. Eesti Arst, 85 (2), 78−83.
1.3.
2006
Reimand, Tiia; Grünberg, Heli; Uibo, Oivi; Õunap, Katrin; Talvik, Tiina (2006). Downi sündroomiga isikute meditsiinilise käsitluse juhend. Eesti Arst, 85 (10), 654−664.
1.1.
2005
Oiglane-Shlik, E.; Rein, R.; Tillmann, V.; Talvik, T.; Ounap, K. (2005). A female with Angelman syndrome and unusual limb deformities. Pediatric Neurology, 33 (1), 66−69.
1.1.
2005
Ylisaukko-Oja, T.; Rehnstrom, K.; Vanhala, R.; Kempas, E.; von Koskull, H.; Tengstrom, C.; Mustonen, A.; Ounap, K.; Lahdetie, J.; Jarvela, I. (2005). MECP2 mutation analysis in patients with mental retardation. American Journal of Medical Genetics Part A, 132A (2), 121−124.
1.1.
2005
Ounap, K.; Ilus, T.; Laidre, P.; Uibo, O.; Tammur, P.; Bartsch, O. (2005). A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21. American Journal of Medical Genetics Part A, 137A (3), 323−327.
1.1.
2005
Ounap, K.; Ilus, T.; Bartsch, O. (2005). A girl with inverted triplication of chromosome 3q25.3 -> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. American Journal of Medical Genetics Part A, 134A (4), 434−438.
1.1.
2004
Ounap, K.; Reimand, T.; Magi, ML.; Bartsch, O. (2004). Two sisters with Silver-Russell phenotype. American Journal of Medical Genetics Part A, 131A (3), 301−306.
1.1.
2004
Walter, S.; Sandig, K.; Hinkel, GK.; Mitulla, B.; Ounap, K.; Sims, G.; Sitska, M.; Utermann, B.; Viertel, P.; Kalscheuer, V.; Bartsch, O. (2004). Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. American Journal of Medical Genetics Part A, 128A (4), 364−373.
1.1.
2004
Ounap, K.; Uibo, O.; Zordania, R.; Kiho, L.; Ilus, T.; Oiglane-Shlik, E.; Bartsch, O. (2004). Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. American Journal of Medical Genetics Part A, 130A (4), 415−423.
1.3.
2004
Kuuse, Kati; Ilus, Tiiu; Tammur, Pille; Õunap, Katrin; Sitska, Mari (2004). Sünnieelselt diagnoositud sugukromosoomide aneuploidia mosaiikne vorm. Eesti Arst, 9, 614.
1.1.
2003
Bartsch, O.; Nemeckova, M.; Kocarek, E.; Wagner, A.; Puchmajerova, A.; Poppe, M.; Ounap, K.; Goetz, P. (2003). DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. American Journal of Medical Genetics Part A, 117A (1), 1−5.
1.2.
2003
Reimand, T.; Uibo, O.; Zordania, R.; Palmiste, V; Õunap, K.; Talvik, T. (2003). Parents' satisfaction with medical and social assistance provided to children with Down Syndrome: experience in Estonia. Community Genetics, 6 (3), 166−170.
1.1.
2002
Ounap, K.; Bartsch, O.; Uibo, O.; Laidre, P. (2002). Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 -> qter, and trisomy 8q24.3 -> qter. American Journal of Medical Genetics, 108 (4), 322−326.
1.1.
2002
Oiglane, E.; Ounap, K.; Bartsch, O.; Rein, R.; Talvik, T. (2002). Sudden death of a girl with Prader-Willi syndrome. Genetic Counseling, 13 (4), 459−464.
1.3.
2002
Õunap, Katrin; Anijalg, Ene; Pikk, Olev; Kukk, Terje (2002). Pärilik lüsosomaalne ladestumishaigus - Fabry tõbi. Eesti Arst, 2, 77−84.
1.1.
2000
Talvik, I.; Ounap, K.; Bartsch, O.; Ilus, T.; Uibo, O.; Talvik, T. (2000). Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32 - > qter. American Journal of Medical Genetics, 93 (5), 399−402.
1.2.
2000
Lilleväli, H.; Margus, K.; Õunap, K.; Metspalu, A. (2000). Mutation A985 G in the MCAD Gene Shows Low Incidence in Estonian Population. Human Mutation, 15 (3), 293−294.
1.3.
1999
Õunap, Katrin; Lilleväli, Hardo; Metspalu, Andres; Sitska, Mari (1999). Fenüülketonuuria Eestis: haigete kliinilise pildi ja genotüübi iseloomustus. Eesti Arst, 3, 234−240.
2.3.
1999
Õunap, Katrin (1999). Phenylketonuria in Estonia: incidence, newborn screening, diagnosis, clinical characterization and genotype/phenotype correlation. (Tartu Ülikool.; Arstiteaduskond.; ). Tartu: Tartu University Press.
1.1.
1998
Ounap, K.; Lillevali, H.; Metspalu, A.; Lipping-Sitska, M. (1998). Development of the phenylketonuria screening programme in Estonia. Journal of Medical Screening, 5 (1), 22−23.
1.1.
1998
Ounap, K.; Justus, I.; Lipping-Sitska, M. (1998). Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? Clinical Dysmorphology, 7 (1), 45−50.
1.1.
1998
Ounap, K.; Laidre, P.; Bartsch, O.; Rein, R.; Lipping-Sitska, M. (1998). Familial Williams-Beuren syndrome. American Journal of Medical Genetics, 80 (5), 491−493.
1.1.
1996
Lillevali, H.; Ounap, K.; Metspalu, A. (1996). Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes. European Journal of Human Genetics, 4 (5), 296−300.
1.1.
1996
Ounap, K.; Lillevali, H.; Klaassen, T.; Metspalu, A.; Sitska, M. (1996). The incidence and characterization of phenylketonuric patients in Estonia. Journal of Inherited Metabolic Disease, 19 (3), 381−382.
13.02.2022

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ProgrammLiikNumberNimiProjekti algusProjekti lõppVastutav täitjaAsutusFinantseerijapoolne rahastamine
SFSF0180027s10DNA koopiaarvu variatsioonid Eesti tervetel indiviididel ja arenguhäiretega patsientidel01.01.201031.12.2015Ants KurgTartu Ülikool, Loodus- ja tehnoloogiateaduskond, Tartu Ülikooli Molekulaar- ja Rakubioloogia Instituut494 043,77 EUR
ETFETF8175Düsmorfoloogia. Kaasasündinud düsmorfsete tunnuste, kasvu- ja arenguhäiretega laste uurimine01.01.201031.12.2013Katrin ÕunapTartu Ülikool, Arstiteaduskond70 559,61 EUR
PRGPRG471Haruldaste kaasasündinud lihashaiguste ja neurometaboolsete haiguste diagnostika ja levimus.01.01.201931.12.2023Katrin ÕunapTartu Ülikool, Meditsiiniteaduste valdkond, kliinilise meditsiini instituut611 250,00 EUR
SFSF0182695s05Lapse arengut ja krooniliste haiguste patogeneesi määravad varajased tegurid ja sellest tulenevad uued võimalused nende mõjutamiseks ja raviks.01.01.200531.12.2010Vallo TillmannTartu Ülikool, Arstiteaduskond577 556,01 EUR
SFSF0180004s11Lapse arengut, krooniliste haiguste patogeneesi, diagnoosimist ja ravi kaugtulemusi määravad tegurid lastel: uued võimalused nende mõjutamiseks ja raviks. 01.01.201131.12.2016Vallo TillmannTartu Ülikool; Tartu Ülikool, Meditsiiniteaduste valdkond, kliinilise meditsiini instituut830 340,00 EUR
ETFETF6808Päriliku kurtuse levimuse ja geneetiliste põhjuste uurimine Eestis01.01.200631.12.2009Katrin ÕunapTartu Ülikool, Arstiteaduskond61 643,56 EUR
1.1.5.SMVCM20222 (EJP RD)Suurte sarkomeeriliste geenide diagnostilise efektiivsuse suurendamine10.03.202028.02.2023Katrin ÕunapTartu Ülikool, Meditsiiniteaduste valdkond, kliinilise meditsiini instituut75 000,00 EUR
ETFETF5467Uue DNA diagnostika tehnoloogia väljatöötamine inimese kromosoomide struktuursete aberratsioonide tuvastamiseks vaimse alaarengu korral 01.01.200331.12.2006Ants KurgTartu Ülikool, Bioloogia-geograafiateaduskond51 656,40 EUR
PUT; PUT_OPPUT355Uute haruldaste geneetiliste haiguste avastamine lastel.01.01.201431.12.2017Katrin ÕunapTartu Ülikool, Meditsiiniteaduste valdkond, kliinilise meditsiini instituut222 400,00 EUR
MOB7MOB7-3Õppevisiit MOB7-306.12.201605.09.2017Katrin ÕunapTartu Ülikool, Meditsiiniteaduste valdkond, kliinilise meditsiini instituut1 500,00 EUR