The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

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Last Posted: Oct 13, 2018

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• The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
  Helbig Ingo et al. Human mutation 2018 Nov (11) 1476-1484
• Pitfalls of clinical exome and gene panel testing: alternative transcripts.
  Bodian Dale L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
• Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.
  Hurlimann Thierry et al. BMC medical ethics 2018 Sep 19(1) 81
• Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
  Peron Angela et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Sep
• New supplemental awards boost NIH funding for research on Down syndrome 
  NIH, October 1, 2018
• A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.
  Hochstenbach Ron et al. European journal of medical genetics 2018 Sep
• New Tourette Disorder Genes Come to Light
  M Solis, UCSF, September 25, 2018
• Pharmacogenetics of adverse reactions to antiepileptic drugs.
  Fricke-Galindo I et al. Neurologia (Barcelona, Spain) 2018 Apr 33(3) 165-176
• Solving the genome puzzle: With advances in gene technology helping to diagnose very rare diseases, has the new era of personalised medicine finally arrived? 
  L Geddes, The Guardian, September 21, 2018
• Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.
  Calhoun Jeffrey D et al. Journal of neurogenetics 2018 Sep 1-18

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