Journal article

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

James T Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tetrault, Andrew E Timms, Dana Jensen, Sarah Collins, Malgorzata JM Nowaczyk, Marjorie J Lindhurst, Katherine M Christensen, Stephen R Braddock, Heather Brandling-Bennett, Raoul CM Hennekam, Brian Chung, Anna Lehman, John Su, SuYuen Ng, David J Amor, Jacek Majewski, Les G Biesecker Show all

American Journal of Human Genetics | CELL PRESS | Published : 2016

Grants

Awarded by National Institute of Neurological Disorders and Stroke (NINDS)


Awarded by National Heart, Lung and Blood Institute


Awarded by Australian National Health and Medical Research Council Postdoctoral Overseas Training Scholarship


Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT


Awarded by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE


Awarded by NATIONAL HUMAN GENOME RESEARCH INSTITUTE


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Awarded by Cancer Research UK


Funding Acknowledgements

We are grateful to the individuals and families who participated in this study. Research reported in this publication was supported by the Care4Rare Canada Consortium (Enhanced Care for Rare Genetic Diseases in Canada) funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec, and Children's Hospital of Eastern Ontario Foundation; and by the National Institute of Neurological Disorders and Stroke (NINDS) under award numbers 1R01NS092772 (W.B.D.) and the National Human Genome Research Institute of the National Institutes of Health. Some sequencing in this study was provided by the University of Washington Center for Mendelian Genomics (UW-CMG) and was funded by the National Human Genome Research Institute and the National Heart, Lung and Blood Institute grant U54HG006493 to Drs. Debbie Nickerson, Jay Shendure, and Michael Bamshad. M.J.L. and L.G.B. are supported by the Intramural Research Program of the National Human Genome Research Institute. We also acknowledge the contributions of the high-throughput sequencing platform of the McGill University and Genome Quebec Innovation Centre, Montreal, Canada. M.T. received a post-doctoral fellowship from the Reseau de Medecine Genique Appliquee. L.M.M. is supported by a scholarship from the (CIHR) and Consortium National de Formation en Sante. T.Y.T. was supported by an Australian National Health and Medical Research Council Postdoctoral Overseas Training Scholarship (#607431). D.A. and M.O'D. are supported by Cancer Research UK. None of the authors have any conflicts of interest to declare.