John A. Phillips

Mutations in PROP1 cause familial combined pituitary hormone deficiency

Wei Wu, Joy D. Cogan, Roland Pfäffle et al. · Nature Genetics · 1998 · 570 citations

Genetic Disorder, Genetics, Pituitary Hormone Deficiency +3

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

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text

Inherited human cPLA2α deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction

David H. Adler, Joy D. Cogan, John A. Phillips et al. · Journal of Clinical Investigation · 2008 · 138 citations · Full text

Lipid Peroxidation, Immunology, Gastroenterology +22

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 118 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +11