P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation
Lishuang Shen,
Marie Lott,
Elizabeth McCormick,
Colleen Muraresku,
Kierstin Keller,
Douglas Wallace,
Zarazuela Zolkipli-Cunningham,
Shamima Rahman,
Marni Falk,
Xiaowu Gai
Affiliations
Lishuang Shen
Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, CA
Marie Lott
Center for Mitochondrial and Epigenomic Medicine, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA
Elizabeth McCormick
Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia, Philadelphia, PA
Colleen Muraresku
Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia, Philadelphia, PA
Kierstin Keller
Center for Mitochondrial and Epigenomic Medicine, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA
Douglas Wallace
Center for Mitochondrial and Epigenomic Medicine, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA
Zarazuela Zolkipli-Cunningham
Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia, Philadelphia, PA
Shamima Rahman
Department of Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health
Marni Falk
Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia, Philadelphia, PA
