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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) RMW Hofstra, J Osinga, G Tan-Sindhunata, Y Wu, EJ Kamsteeg, RP Stulp, ... Nature genetics 12 (4), 445-447, 1996 | 408 | 1996 |
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ... The American Journal of Human Genetics 75 (1), 27-34, 2004 | 390 | 2004 |
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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ... Nature genetics 42 (2), 160-164, 2010 | 300 | 2010 |
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 | 300 | 2009 |
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort S Eggers, S Sadedin, JA Van Den Bergen, G Robevska, T Ohnesorg, ... Genome biology 17, 1-21, 2016 | 297 | 2016 |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 294 | 2017 |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012 | 284 | 2012 |
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Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) DA Koolen, WM Nillesen, MHA Versteeg, GFM Merkx, N Knoers, M Kets, ... Journal of medical genetics 41 (12), 892-899, 2004 | 215 | 2004 |
Guidelines for molecular karyotyping in constitutional genetic diagnosis JR Vermeesch, H Fiegler, N De Leeuw, K Szuhai, J Schoumans, ... European Journal of Human Genetics 15 (11), 1105-1114, 2007 | 196 | 2007 |