Reanalyzing gene tests prompts new diagnoses in kids-Epilepsy study calls for 2-year checks to keep pace with scientific advances

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Last Posted: Nov 08, 2018

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• Reanalyzing gene tests prompts new diagnoses in kids-Epilepsy study calls for 2-year checks to keep pace with scientific advances
  UT SouthWestern, November 5, 2018
• Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients.
  SoRelle Jeffrey A et al. JAMA pediatrics 2018 Nov e182302
• Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.
  Niestroj Lisa-Marie et al. Epilepsia 2018 Oct
• A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability.
  Ouyang Lijing et al. Research in developmental disabilities 2014 Jul 35(7) 1518-27
• Inborn Errors of Metabolism with Movement Disorders: Defects in Metal Transport and Neurotransmitter Metabolism.
  Kantamneni Trishna et al. Pediatric clinics of North America 2018 65(2) 301-315
• 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

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