Bernard N. Chodirker

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 250 citations · Full text

Life Sciences, Genetics, Molecular Biology +7

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymańska, Victor L. Jensen et al. · The American Journal of Human Genetics · 2011 · 200 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel et al. · The American Journal of Human Genetics · 2012 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

A Homoallelic Gly317 → Asp Mutation in ALPL Causes the Perinatal (Lethal) Form of Hypophosphatasia in Canadian Mennonites

Cheryl R. Greenberg, Cheryl L.D. Taylor, James C. Haworth et al. · Genomics · 1993 · 121 citations

Life Sciences, Genetics, Molecular Genetics +4

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

Chitra Prasad, Asuri N. Prasad, Bernard N. Chodirker et al. · Clinical Genetics · 2000 · 100 citations

Life Sciences, Genetics, Pediatrics +16