Short CV/Education and training

  • 2018 – 2019
    The Joint Center for Mendelian Genomics at the Broad Institute of MIT and Harvard

  • 2017
    The Joint Center for Mendelian Genomics at the Broad Institute of MIT and Harvard

  • 2017
    Institute of Imagine, Paris

  • 2014
    Institute of Medical Genetics, University of Zurich, Switzerland

  • 2012
    Radboud University Nijmegen, Department of Clinical Genetics

  • 2002
    Institute of Clinical Genetics, Dresden Technical University, Dresden, Germany

  • 1996
    Institute of Human Genetics, Virchow-Clinicum, Humboldt University, Berlin, Germany

  • 1996
    Department of Clinical Chemistry, Göteborg University, Sweden

  • 1994
    Institute of Human Genetics, Virchow-Clinicum, Humboldt University, Berlin, Germany

  • 1992
    Helsinki University Children’s Hospital

  • 1990
    Russian Institute of Paediatrics and Child Surgery

  • 1988 – 1989
    Postgraduate medical training

  • 1982 – 1988
    Tartu University, Faculty of Medicine, M.D.

Selected publications

  • Yakoreva M, Kahre T, Žordania R, Reinson K, Teek R, Tillmann V, Peet A, Õiglane-Shlik E, Pajusalu S, Murumets Ü, Vals MA, Mee P, Wojcik MH, Õunap K. (2019). A Retrospective Analysis of the Prevalence of Imprinting Disorders in Estonia From 1998 to 2016. Eur J Hum Genet, 11,1649-1658.

  • Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K. (2019). Clinical, Neuroradiological, and Biochemical Features of SLC35A2-CDG Patients. J Inherit Metab Dis, 42(3), 553-564.

  • 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.

  • Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. (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.

  • Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, El Chehadeh S, Cho MT, Pfundt R, Tan TY, Kirchhoff M, Menten B, Vergult S, Lindstrom K, Reis A, Johnson DS, Fryer A, McKay V; DDD Study, Fisher RB, Thauvin-Robinet C, Francis D, Roscioli T, Pajusalu S, Radtke K, Ganesh J, Brunner HG, Wilson M, Faivre L, Kalscheuer VM, Thevenon J, Akhtar A. (2018). De Novo Mutations in MSL3 Cause an X-linked Syndrome Marked by Impaired Histone H4 Lysine 16 Acetylation. Nat Genet, 50(10),1442-1451.

  • Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of Inherited Metabolic Disorders, 40 (2), 171−176.

  • 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. American Journal of Human Genetics, 99 (4), 860−876.

  • 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.

  • Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. (2016). Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature Genetics, 48, 1185−1192.

  • Pajusalu S, Reimand T, Õunap K. (2015). Novel Homozygous Mutation in KPTN Gene Causing a Familial Intellectual Disability-Macrocephaly Syndrome. Am J Med Genet A, 167A(8),1913-1915.



Complete list of publications

Selected projects

  • The diagnostics and prevalence of rare congenital myopathies and neurometabolic disorders. (1.01.2019−31.12.2023), Katrin Õunap, University of Tartu, Faculty of Medicine, Institute of Clinical Medicine

  • EJP-RD project: Improved diagnostic output in large sarcomeric genes (10.03.2020−28.02.2023), consortium coordinator B. Udd, Tampere, Finland

Membership in scientific bodies/juries

  • The member of the Society of the Study of Inborn Errors of Metabolism (SSIEM) board of trustee, 2014 − 2020

  • The President of ERNDIM (the External Quality Assurance Programme) board of trustees, 2014 − 2019

  • The president of the Society of Medical Genetics in Estonia, 2014 − 2018

  • The member of ERNDIM (the External Quality Assurance Programme) board of trustees, 2011 − 2014

  • Baltic Metabolic Group, president,2007 − 2014

  • The Board member of Estonian Society of Human Genetics, 2006 − 2007

  • The president of Estonian Society of Human Genetics, 1999 − 2001

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