Stefan White
Stefan White
WhiteFox Science Consulting
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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