R. Curtis Rogers

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 673 citations

Life Sciences, Genetics, Molecular Biology +11

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

22q13 deletion syndrome

Mary C. Phelan, R. Curtis Rogers, Robert A. Saul et al. · American Journal of Medical Genetics · 2001 · 276 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Sara M. Sarasua, Luigi Boccuto, Julia L. Sharp et al. · Human Genetics · 2014 · 195 citations

Life Sciences, Genetics, Molecular Genetics +14