PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

This publication has 57 references indexed in Scilit:

• GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
  PLOS Computational Biology, 2013
• Development of the diaphragm – a skeletal muscle essential for mammalian respiration
  The FEBS Journal, 2013
• Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia
  Human Genetics, 2012
• An integrative variant analysis suite for whole exome next-generation sequencing data
  BMC Bioinformatics, 2012
• Plastin Family of Actin-Bundling Proteins: Its Functions in Leukocytes, Neurons, Intestines, and Cancer
  International Journal of Cell Biology, 2012
• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
  Nature Genetics, 2009
• Analyzing real-time PCR data by the comparative CT method
  Nature Protocols, 2008
• Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
  Nature Genetics, 2007
• Refined genetic mapping of X-linked thoracoabdominal syndrome
  American Journal of Medical Genetics, 1996
• Binding sites involved in the interaction of actin with the N‐terminal region of dystrophin
  FEBS Letters, 1992