Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism

(2014) Iuliana Ionita-Laza et al.   PLoS Genetics

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

(2013) Lucie Gueneau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cohen syndrome is associated with major glycosylation defects

(2013) Laurence Duplomb et al.   HUMAN MOLECULAR GENETICS

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

(2012) Salima El Chehadeh-Djebbar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Clinical variability of genetic isolates of Cohen syndrome

(2011) S Douzgou et al.   CLINICAL GENETICS

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

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

(2010) Alexander Waite et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome

(2009) I. Balikova et al.   HUMAN MUTATION

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

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

(2008) Wenke Seifert et al.   HUMAN MUTATION