Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

This publication has 32 references indexed in Scilit:

• Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
  European Journal of Human Genetics, 2013
• Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
  Molecular Genetics & Genomic Medicine, 2013
• Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
  The American Journal of Human Genetics, 2012
• First implication ofSTRA6mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to theSTRA6phenotype
  Human Mutation, 2011
• PAX6 gene analysis in irido-fundal coloboma
  2011
• Novel SOX2 partner-factor domain mutation in a four-generation family
  European Journal of Human Genetics, 2009
• Novel SOX2 Mutation Associated With Ocular Coloboma in a Chinese Family
  Archives of Ophthalmology (1950), 2008
• Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways
  The American Journal of Human Genetics, 2008
• Defects in Yolk Sac Vasculogenesis, Chorioallantoic Fusion, and Embryonic Axis Elongation in Mice with Targeted Disruption of Yap65
  Molecular and Cellular Biology, 2006
• Visual acuity in children with coloboma
  Ophthalmology, 2000