Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Autor: Leung GKC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Luk HM; Clinical Genetic Service, Department of Health, Hong Kong, China., Tang VHM; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Gao WW; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Yu MHC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Wong WL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Yang WL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Wong WHS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Ma ACH; Department of Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.; Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong, China., Leung AYH; Department of Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Jin DY; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Chan KYK; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, China., Allanson J; Department of Paediatrics, Faculty of Medicine, University of Ottawa, Ontario, Canada., Lo IFM; Clinical Genetic Service, Department of Health, Hong Kong, China. dr.ivanlo@gmail.com., Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China. bhychung@hku.hk.; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, China. bhychung@hku.hk.

Publikováno v: Scientific reports [Sci Rep] 2018 Feb 05; Vol. 8 (1), pp. 2421. Date of Electronic Publication: 2018 Feb 05.