Freddie H. Sharkey

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

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson et al. · PLoS ONE · 2016 · 85 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Feng Li, Yiping Shen, U Köhler et al. · European Journal of Medical Genetics · 2010 · 81 citations

Life Sciences, Genetics, Molecular Genetics +16

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

Judith A. Fantes, Elena Boland, Jacqueline Ramsay et al. · The American Journal of Human Genetics · 2008 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Roberto Giorda, María Clara Bonaglia, Silvana Beri et al. · The American Journal of Human Genetics · 2009 · 73 citations · Full text

Life Sciences, Genetics, Neurology +14