Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

(2011) Myriam Vezain et al.   HUMAN MUTATION

Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

(2011) Wenke Seifert et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

(2010) Veronica Parri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cohen syndrome diagnosis using whole genome arrays

(2010) N. Rivera-Brugues et al.   JOURNAL OF MEDICAL GENETICS

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

(2010) S. El Chehadeh et al.   JOURNAL OF MEDICAL GENETICS

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease

(2009) J. Vissing et al.   BRAIN

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

(2009) André Mégarbané et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants ofCOH1

(2008) Wenke Seifert et al.   HUMAN MUTATION