Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
Authors: Alice Garrett; Chey Loveday; Laura King; Samantha Butler; Rachel Robinson; Carrie Horton; Amal Yussuf; Subin Choi; Beth Torr; Miranda Durkie; George J Burghel; James Drummond; Ian Berry; Andrew Wallace; Alison Callaway; Diana Eccles; Marc Tischkowitz; Katrina Tatton-Brown; Katie Snape; Terri McVeigh; Louise Izatt; Emma R Woodward; Nelly Burnichon; Anne-Paule Gimenez-Roqueplo; Francesco Mazzarotto; Nicola Whiffin; James S Ware; Helen Hanson; Tina Pesaran; Holly LaDuca; Alexandre Buffet; Eamonn R Maher; Clare Turnbull
Collaborators: Birmingham Women's and Children's NHS Foundation Trust; Cambridge University Hospitals; Guy's and St Thomas' NHS Foundation Trust; Inserm; Manchester University NHS Foundation Trust; Royal Brompton & Harefield Hospitals NHS Trust; Royal Marsden NHS Foundation Trust; Salisbury District Hospital; Sheffield Children's NHS Foundation Trust; St. George's University Hospitals NHS Foundation Trust; The Institute of Cancer Research, Sutton; The Leeds Teaching Hospitals NHS Trust; University of Oxford; University of Southampton