Stefan J. White

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek et al. · The American Journal of Human Genetics · 2005 · 478 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Identification of SOX3 as an XX male sex reversal gene in mice and humans

Edwina Sutton, James Hughes, Stefan J. White et al. · Journal of Clinical Investigation · 2010 · 280 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Complex SNP-related sequence variation in segmental genome duplications

David Fredman, Stefan J. White, Susanna Potter et al. · Nature Genetics · 2004 · 233 citations

Life Sciences, Genetics, Molecular Genetics +14

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

Cornelis L. Harteveld, Astrid Voskamp, Marion Phylipsen et al. · Journal of Medical Genetics · 2005 · 226 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

Alexander Pearlman, Johnny Loke, Cédric Le Caignec et al. · The American Journal of Human Genetics · 2010 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16