Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome

This publication has 18 references indexed in Scilit:

• Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
  JAMA, 2014
• A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
  Science, 2012
• Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice
  Journal of Neurochemistry, 2011
• American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
  Genetics in Medicine, 2011
• R9AP and R7BP: traffic cops for the RGS7 family in phototransduction and neuronal GPCR signaling
  Trends in Pharmacological Sciences, 2009
• Gβ5 Is Required for Normal Light Responses and Morphology of Retinal ON-Bipolar Cells
  Journal of Neuroscience, 2007
• Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
  The American Journal of Human Genetics, 2005
• A novel kind of G protein heterodimer: the G beta5-RGS complex.
  2003
• The GTPase activating factor for transducin in rod photoreceptors is the complex between RGS9 and type 5 G protein β subunit
  Proceedings of the National Academy of Sciences, 1999
• Cloning and tissue distribution of the human G protein β5 cDNA
  Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 1998