John R. Ainsworth

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A. Aligianis, Colin A. Johnson, Paul Gissen et al. · Nature Genetics · 2005 · 224 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +7

The epidemiology of pediatric glaucoma: The Toronto experience

Robert H. Taylor, John R. Ainsworth, Anthony R. Evans et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus · 1999 · 184 citations

Pediatric Epidemiology, Clinical Epidemiology, Pediatrics +4

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos et al. · The American Journal of Human Genetics · 2011 · 168 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Neil V. Morgan, Shanaz Pasha, Colin A. Johnson et al. · The American Journal of Human Genetics · 2005 · 141 citations · Full text

Novel Variant, Mendelian Disorder, Genetic Disorder +8

Identification of Novel<i>RPGR</i>ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families

Neil D. Ebenezer, Michel Michaelides, Sharon Jenkins et al. · Investigative Ophthalmology & Visual Science · 2005 · 112 citations