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Katrin Ounap
Katrin Ounap
University of Tartu, Institute of Clinical Medicine
Zweryfikowany adres z broadinstitute.org
Tytuł
Cytowane przez
Cytowane przez
Rok
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2
RG Walters, S Jacquemont, A Valsesia, AJ de Smith, D Martinet, ...
Nature 463 (7281), 671-675, 2010
5862010
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ...
Nat Rev Endocrinol 14 (4), 229-249, 2018
463*2018
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ...
The Lancet Neurology 10 (9), 806-818, 2011
4592011
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
3932017
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
3062009
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ...
Nature genetics 44 (3), 338-342, 2012
2842012
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
D Bartholdi, M Krajewska-Walasek, K Õunap, H Gaspar, ...
Journal of medical genetics 46 (3), 192-197, 2009
2172009
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
L Welling, LE Bernstein, GT Berry, AB Burlina, F Eyskens, M Gautschi, ...
Journal of inherited metabolic disease 40, 171-176, 2017
1902017
Monogenic variants in dystonia: an exome-wide sequencing study
M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ...
The Lancet Neurology 19 (11), 908-918, 2020
1502020
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ...
Journal of medical genetics 50 (7), 463-472, 2013
1482013
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant
DA Koolen, R Pfundt, K Linda, G Beunders, HE Veenstra-Knol, JH Conta, ...
European Journal of Human Genetics 24 (5), 652-659, 2016
1412016
Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number
K Thompson, H Majd, C Dallabona, K Reinson, MS King, CL Alston, L He, ...
The American Journal of Human Genetics 99 (4), 860-876, 2016
1282016
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
SB Wortmann, S Ziętkiewicz, M Kousi, R Szklarczyk, TB Haack, ...
The American Journal of Human Genetics 96 (2), 245-257, 2015
1252015
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
EM Jenkinson, MP Rodero, PR Kasher, C Uggenti, A Oojageer, ...
Nature genetics 48 (10), 1185-1192, 2016
1222016
The natural history of classic galactosemia: lessons from the GalNet registry
ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ...
Orphanet journal of rare diseases 14, 1-11, 2019
1152019
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease
S Zagaglia, C Selch, JR Nisevic, D Mei, Z Michalak, ...
Neurology 91 (22), e2078-e2088, 2018
1072018
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up
R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ...
Journal of inherited metabolic disease 42 (1), 5-28, 2019
1052019
Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
D Mitter, R Ullmann, A Muradyan, L Klein-Hitpass, D Kanber, K Ounap, ...
European journal of human genetics 19 (9), 947-958, 2011
992011
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 …
K Ounap, O Uibo, R Zordania, L Kiho, T Ilus, E Oiglane‐Shlik, O Bartsch
American Journal of Medical Genetics Part A 130 (4), 415-423, 2004
832004
De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and …
U Vaher, M Nõukas, T Nikopensius, M Kals, T Annilo, M Nelis, K Õunap, ...
Journal of child neurology 29 (12), NP202-NP206, 2014
822014
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