@article{9b58513eaab64d10b093512ed50a1be3,
title = "Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome",
author = "Manzini, \{M. Chiara\} and Tambunan, \{Dimira E.\} and Hill, \{R. Sean\} and Yu, \{Tim W.\} and Maynard, \{Thomas M.\} and Heinzen, \{Erin L.\} and Shianna, \{Kevin V.\} and Stevens, \{Christine R.\} and Partlow, \{Jennifer N.\} and Barry, \{Brenda J.\} and Jacqueline Rodriguez and Gupta, \{Vandana A.\} and Al-Qudah, \{Abdel Karim\} and Eyaid, \{Wafaa M.\} and Friedman, \{Jan M.\} and Salih, \{Mustafa A.\} and Robin Clark and Isabella Moroni and Marina Mora and Beggs, \{Alan H.\} and Gabriel, \{Stacey B.\} and Walsh, \{Christopher A.\}",
note = "Funding Information: We thank the families who enrolled in our studies and the physicians who have contributed individuals to our validation cohort. The EuroBioBank and Telethon Network Genetic Biobanks (GTB07001F) are also acknowledged for providing biological samples. We are also grateful to A.J. Barkovich for help with the review of the magnetic resonance imaging scans. M.C.M. was supported by a Junior Faculty Career Development Award from the Manton Center for Orphan Disease Research and a K99/R00 Transition to Independence award from the National Institutes of Health (NIH) (National Institute of Child Health \& Human Development, K99HD067379). T.W.Y. was supported by a NIH T32 grant (T32NS007484-08), the Clinical Investigator Training Program at Harvard-MIT Health Science and Technology, and the Nancy Lurie Marks Junior Faculty MeRIT Fellowship. Research was supported by grants from the NIH (National Institute of Neurological Disorders and Stroke R01NS035129 to C.A.W. and National Institute of Arthritis and Musculoskeletal and Skin Diseases R01AR044345 to A.H.B), the Muscular Dystrophy Association to M.C.M. and A.H.B., the William Randolph Hearst Fund to M.C.M. and V.A.G., and the Manton Center for Orphan Disease Research to M.C.M., A.H.B., and C.A.W. Sequencing and Sequenom genotyping at Boston Children{\textquoteright}s Hospital were supported by the Intellectual and Developmental Disabilities Research Centers (P30HD19655). Sequencing at the Broad Institute was supported by a grant from the NIH and the American Recovery \& Reinvestment Act (National Institute of Mental Health RC2MH089952). C.A.W. is an Investigator of the Howard Hughes Medical Institute. ",
year = "2012",
month = sep,
day = "7",
doi = "10.1016/j.ajhg.2012.07.009",
language = "English",
volume = "91",
pages = "541--547",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
number = "3",
}