机译:Clingen癫痫基因策策专家小组 - 桥接临床域知识和正式基因策委之间的划分
Division of NeurologyChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania USA;
Autism &
Developmental Medicine InstituteGeisinger Health SystemLewisburg Pennsylvania USA;
Autism &
Developmental Medicine InstituteGeisinger Health SystemLewisburg Pennsylvania USA;
Department of NeurologyGoethe UniversityFrankfurt Germany;
Children's Hospital of Eastern Ontario Research InstituteUniversity of OttawaOttawa Canada;
Department of GeneticsUniversity of North CarolinaChapel Hill North Carolina USA;
Department of Pathology and Laboratory MedicineLondon Health SciencesLondon Ontario Canada;
Division of Child NeurologyColumbia University Medical CenterNew York New York USA;
Department of Human GeneticsUniversity of MichiganAnn Arbor Michigan USA;
Quest DiagnosticsAthena DiagnosticsMarlborough Massachusetts USA;
Departments of Pediatrics and NeurologyUniversity of CaliforniaSan Francisco California USA;
Center for Integrative Brain ResearchSeattle Children's Research InstituteSeattle Washington USA;
Department of Pediatrics and NeurologyUniversity of Colorado School of MedicineAurora Colorado USA;
Department of NeurologyUniversity of VirginiaCharlottesville Virginia USA;
GeneDxGaithersburg Maryland USA;
Department of NeurologyUniversity of PennsylvaniaPhiladelphia Pennsylvania USA;
Pediatric Neurology and Muscular Diseases UnitUniversity of GenoaGenova Italy;
Epilepsy Genetics ProgramBoston Children's HospitalBoston Massachusetts USA;
Laboratory for Molecular MedicinePartners Healthcare Personalized MedicineCambridge Massachusetts;
Laboratory for Molecular MedicinePartners Healthcare Personalized MedicineCambridge Massachusetts;
Division of NeurologyChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania USA;
Division of Genetic MedicineUniversity of WashingtonSeattle Washington USA;
ClinGen/Clinical Genome Resource; clinical validity; epilepsy; epileptic encephalopathy; gene–disease association;
机译:Clingen癫痫基因策策专家小组 - 桥接临床域知识和正式基因策委之间的划分
机译:通过通过临床基因组资源(Clingen)溶酶体储存疾病变体策策专家组来改善ACMG-AMP变体分类标准改善Pompe诊断
机译:Clingen Variant Colatation专家小组经验和标准化的疾病和基因级规范的ACMG / AMP序列变异解释指南
机译:DC提案:在社区驱动的知识管理平台中获取知识演化和专业知识
机译:变形 - 策划和数据库实例化(Variant-CADI):用于临床遗传检测的自动化,注释和管理的自动化集成软件系统
机译:PTEN变异调控的基因特定标准:ClinGen PTEN专家小组的建议
机译:Clingen癫痫基因策策专家小组 - 桥接临床域知识和正式基因策委之间的划分