| Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease JH Roelfsema, SJ White, Y Ariyürek, D Bartholdi, D Niedrist, F Papadia, ... The American Journal of Human Genetics 76 (4), 572-580, 2005 | 539 | 2005 |
| Identification of SOX3 as an XX male sex reversal gene in mice and humans E Sutton, J Hughes, S White, R Sekido, J Tan, V Arboleda, N Rogers, ... The Journal of clinical investigation 121 (1), 328-341, 2011 | 294 | 2011 |
| Complex SNP-related sequence variation in segmental genome duplications D Fredman, SJ White, S Potter, EE Eichler, JTD Dunnen, AJ Brookes Nature genetics 36 (8), 861-866, 2004 | 276 | 2004 |
| Nine unknown rearrangements in 16p13. 3 and 11p15. 4 causing α-and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification CL Harteveld, A Voskamp, M Phylipsen, N Akkermans, JT den Dunnen, ... Journal of medical genetics 42 (12), 922-931, 2005 | 262 | 2005 |
| Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization S White, M Kalf, Q Liu, M Villerius, D Engelsma, M Kriek, E Vollebregt, ... The American Journal of Human Genetics 71 (2), 365-374, 2002 | 244 | 2002 |
| Deletion and duplication screening in the DMD gene using MLPA T Lalic, RHAM Vossen, J Coffa, JP Schouten, M Guc-Scekic, ... European journal of human genetics 13 (11), 1231-1234, 2005 | 229 | 2005 |
| Mutations in MAP3K1 cause 46, XY disorders of sex development and implicate a common signal transduction pathway in human testis determination A Pearlman, J Loke, C Le Caignec, S White, L Chin, A Friedman, N Warr, ... The American Journal of Human Genetics 87 (6), 898-904, 2010 | 217 | 2010 |
| Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase SAJL Oberstein, M Kriek, SJ White, ME Kalf, K Szuhai, JT den Dunnen, ... The American Journal of Human Genetics 79 (3), 562-566, 2006 | 213 | 2006 |
| Two‐color multiplex ligation‐dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses SJ White, GR Vink, M Kriek, W Wuyts, J Schouten, B Bakker, MH Breuning, ... Human mutation 24 (1), 86-92, 2004 | 188 | 2004 |
| Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort KM Dent, DM Dunn, AC Von Niederhausern, AT Aoyagi, L Kerr, ... American journal of medical genetics Part A 134 (3), 295-298, 2005 | 185 | 2005 |
| Duplications in the DMD gene SJ White, A Aartsma‐Rus, KM Flanigan, RB Weiss, ALJ Kneppers, T Lalic, ... Human mutation 27 (9), 938-945, 2006 | 179 | 2006 |
| Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis S White, T Ohnesorg, A Notini, K Roeszler, J Hewitt, H Daggag, C Smith, ... PloS one 6 (3), e17793, 2011 | 160 | 2011 |
| Skewed X-inactivation is common in the general female population E Shvetsova, A Sofronova, R Monajemi, K Gagalova, HHM Draisma, ... European Journal of Human Genetics 27 (3), 455-465, 2019 | 116 | 2019 |
| Copy number variation in the genome; the human DMD gene as an example SJ White, JT Den Dunnen Cytogenetic and genome research 115 (3-4), 240-246, 2006 | 113 | 2006 |
| Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation S Vidarsdottir, MJE Walenkamp, AM Pereira, M Karperien, J van Doorn, ... The Journal of Clinical Endocrinology & Metabolism 91 (9), 3482-3485, 2006 | 111 | 2006 |
| Severe myocardial fibrosis caused by a deletion of the 5’end of the lamin A/C gene JP van Tintelen, RA Tio, WS Kerstjens-Frederikse, JH van Berlo, ... Journal of the American College of Cardiology 49 (25), 2430-2439, 2007 | 107 | 2007 |
| Array‐MLPA: comprehensive detection of deletions and duplications and its application to DMD patients F Zeng, ZR Ren, SZ Huang, M Kalf, M Mommersteeg, M Smit, S White, ... Human mutation 29 (1), 190-197, 2008 | 94 | 2008 |
| Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26. 2-> qter deletion detected … MJE Walenkamp, SMPF de Muinck Keizer-Schrama, M De Mos, ME Kalf, ... The Journal of Clinical Endocrinology & Metabolism 93 (6), 2421-2425, 2008 | 84 | 2008 |
| Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas L Hameetman, G David, A Yavas, SJ White, AHM Taminiau, ... The Journal of pathology 211 (4), 399-409, 2007 | 82 | 2007 |
| Flexible and scalable full‐length CYP2D6 long amplicon PacBio sequencing HPJ Buermans, RHAM Vossen, SY Anvar, WG Allard, HJ Guchelaar, ... Human mutation 38 (3), 310-316, 2017 | 77 | 2017 |
