Nationwide Children's Hospital
United States of America-
Roshini Abraham, PhD -
Jahnavi Aluri, PhD -
Alison Brittain, PhD, DO
-
Bimal Chaudhari, MD, MPH -
Catherine Cottrell, PhD, FACMG -
Fang Fang, PhD -
Ying-Chen (Claire) Hou, PhD, FACMG -
Daniel C. Koboldt, MS -
Prasad Kopparapu, PhD -
Kori Kuzma
-
Marco Leung, PhD, FACMG -
Kandamurugu Manickam, MD, MPH, FACMG -
Swetha Ramadesikan, Ph.D. -
Shalini Reshmi, PhD, FACMG -
Ivana Stojkic, MD -
Toni Pearson, MD, MBBS -
Alex Wagner, PhD
ClinGen Members
Working Groups
- Actionability
- Adult Actionability Working Group
- Ancestry and Diversity
- Baseline Annotation
- Cancer Variant Interpretation
- Data Platform
- Dosage Sensitivity Curation
- Hematologic Cancers Taskforce
- Hereditary Cancer Dosage Sensitivity Subgroup
- Immunology CDWG
- Pediatric Actionability Working Group
- Pediatric Cancer Taskforce
- Pharmacogenomics Interpretation Committee
- Population Screening WG
- Recurrent CNVs Dosage Sensitivity Subgroup
- Somatic Cancer CDWG
- Steering Committee
Expert Panels
- Antibody Deficiencies Gene Curation Expert Panel
- BCR::ABL1-like B-lymphoblastic Leukemia/Lymphoma Somatic Cancer Variant Curation Expert Panel
- Complement-Mediated Kidney Diseases Gene Curation Expert Panel
- Congenital Myopathies Gene Curation Expert Panel
- Congenital Myopathies Variant Curation Expert Panel
- Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) Variant Curation Expert Panel
- Kidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
- Leber Congenital Amaurosis/early onset Retinal Dystrophy Variant Curation Expert Panel
- Primary Immune Regulatory Disorders Gene Curation Expert Panel
- Retina Gene Curation Expert Panel
- Somatic Mosaicism of Vascular Anomalies Gene Curation Expert Panel
- Thrombosis Variant Curation Expert Panel