Roberta A Pagon

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Roberta A Pagon, John M. Graham, Jonathan Zonana et al. · The Journal of Pediatrics · 1981 · 830 citations

Developmental Anomaly, Pathology, Multiple Anomalies +4

Diagnostic criteria for Walker‐Warburg syndrome

William B. Dobyns, Roberta A Pagon, Dawna Armstrong et al. · American Journal of Medical Genetics · 1989 · 448 citations

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 276 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

Cynthia J. Curry, John C. Carey, Julie Holland et al. · American Journal of Medical Genetics · 1987 · 230 citations

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Perrine Malzac, Hayley Webber, A. Moncla et al. · The American Journal of Human Genetics · 1998 · 218 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6