Judy Fantes

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics · 2003 · 543 citations

Medicine, Genetics, Molecular Genetics +9

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Sabina Benko, Judy Fantes, Jeanne Amiel et al. · Nature Genetics · 2009 · 436 citations

Life Sciences, Genetics, Molecular Genetics +10

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

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

Judy Fantes, B. Redeker, Matthew Breen et al. · Human Molecular Genetics · 1995 · 218 citations

Life Sciences, Genetics, Molecular Genetics +17

Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy

Jannine Clapp, L. M. Mitchell, Daniel J. Bolland et al. · The American Journal of Human Genetics · 2007 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13