Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 376 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

Maimon M. Cohen, Bryan D. Hall, David W. Smith et al. · The Journal of Pediatrics · 1973 · 258 citations

Medicine, Ophthalmology, Orthodontics +9

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

Kate Chandler · Journal of Medical Genetics · 2003 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Cohen syndrome is associated with major glycosylation defects

Laurence Duplomb, Sandrine Duvet, Damien Picot et al. · Human Molecular Genetics · 2013 · 97 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17