Deciphering a novel complex inversion affecting <i>F8</i> in a family with severe haemophilia A by optical genome mapping
Somayyeh Fahiminiya(Queen Elizabeth II Health Sciences Centre), Julie Gauthier(Centre Hospitalier Universitaire Sainte-Justine), Mira Gandhi(Pacific Northwest Diabetes Research Institute), KyungHee Park(Pacific Northwest Diabetes Research Institute), Jiannis Ragoussis(McGill Genome Centre), Grant A. Mitchell(CURE International UK), Catherine Vézina(McGill University Health Centre), Georges‐Étienne Rivard(Centre Hospitalier Universitaire Sainte-Justine), Alexandre Montpetit(McGill University and Génome Québec Innovation Centre), Claudia M.B. Carvalho(Pacific Northwest Diabetes Research Institute), Shu‐Huang Chen(McGill University and Génome Québec Innovation Centre), Spyros Oikonomopoulos(McGill Genome Centre), Jean‐François Soucy(Centre Hospitalier Universitaire Sainte-Justine), Patrick Scott(Montreal Children's Hospital)
Cited by 6
Related Papers
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas
|Acta Neuropathologica|2012|1k
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
|Nature Genetics|2007|730
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
|PLoS Genetics|2014|672