FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts
Claudine M Kraan, Quang M Bui, Mike Field, Alison D Archibald, Sylvia A Metcalfe, Louise M Christie, Bruce H Bennetts, Ralph Oertel, Melanie J Smith, Desiree du Sart, Damien Bruno, Tiffany L Wotton, David J Amor, David Francis, David E Godler
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2018
Awarded by NHMRC Early Career fellowship
Awarded by NHMRC
Awarded by Financial Markets Foundation for Children (Australia)
This study was supported by an NHMRC Early Career fellowship to C.M.K. (no. 1112934); the Victorian Government's Operational Infrastructure Support Program, with the salaries supported by NHMRC project grants (nos. 104299 and1103389 to D.E.G.); Murdoch Children's Research Institute, Royal Children's Hospital Foundation (D.E.G.); the Financial Markets Foundation for Children (Australia) (nos. 2017-361 to D.E.G., C.M.K., and D.J.A.); the Genetics of Learning Disability (GOLD) Service (T.L.W., M.F., and L.M.C.); and John Kelleher from the Fragile X Association of Australia (T.L.W.). The authors are grateful to the mothers and the staff at the John Hunter Hospital, Newcastle, Australia, for their participation in and support of the study. We also thank Richard Wesseling for designing the Access database for the collection of data and for assisting with the extraction of data for evaluation. Finally, we thank the members of the prepair carrier-screening laboratory team (Alisha Monaco, Karina Sandoval, Lisa Ward, and Melissa Chow).