Joe Rainger

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Kathleen A. Williamson, Ann Hever, Joe Rainger et al. · Human Molecular Genetics · 2006 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

Kathleen A. Williamson, Joe Rainger, James Floyd et al. · The American Journal of Human Genetics · 2014 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger et al. · The American Journal of Human Genetics · 2016 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Joe Rainger, Ellen van Beusekom, Jacqueline Ramsay et al. · PLoS Genetics · 2011 · 93 citations · Full text

Medicine, Genetics, Molecular Genetics +15