John M. Graham

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

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

Joan H.M. Knoll, Robert D. Nicholls, R.E. Magenis et al. · American Journal of Medical Genetics · 1989 · 581 citations

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

Seongman Kang, John M. Graham, Ann Haskins Olney et al. · Nature Genetics · 1997 · 506 citations

Mendelian Disorder, Genetic Disorder, Genetics +3

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Seema R. Lalani, Arsalan M. Safiullah, Susan Fernbach et al. · The American Journal of Human Genetics · 2006 · 391 citations · Full text

Mendelian Disorder, Chd7 Mutations, Genetic Disorder +8