CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability

This publication has 12 references indexed in Scilit:

• Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach
  Journal of Human Genetics, 2015
• Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
  European Journal of Human Genetics, 2012
• Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
  The American Journal of Human Genetics, 2012
• Clinical variability of genetic isolates of Cohen syndrome
  Clinical Genetics, 2011
• The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
  Genome Research, 2010
• Fast and accurate long-read alignment with Burrows–Wheeler transform
  Bioinformatics, 2010
• Behavioural characteristics and autistic features in individuals with Cohen Syndrome
  European Child & Adolescent Psychiatry, 2005
• 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
  The American Journal of Human Genetics, 2003
• Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
  Journal of Medical Genetics, 2003
• A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies
  The Journal of Pediatrics, 1973