Journal article

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J Kaiser, Morad Ansari, Diana Braunholz, Maria Concepcion Gil-Rodriguez, Christophe Decroos, Jonathan J Wilde, Christopher T Fincher, Maninder Kaur, Masashige Bando, David J Amor, Paldeep S Atwal, Melanie Bahlo, Christine M Bowman, Jacquelyn J Bradley, Han G Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs Show all

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2014

Grants

Awarded by National Institutes of Health


Awarded by Spanish Ministry of Health Fondo de Investigacion Sanitaria (FIS)


Awarded by National Heart, Lung and Blood Institute grant


Awarded by Ontario Genomics Institute


Awarded by Medical Research Council


Funding Acknowledgements

This work was supported by National Institutes of Health Grants (NICHD K08HD055488 to, M. A. D., (GM49758 to D. W. C., NICHD P01 HD052860 to I. D. K.; research grants from the USA CdLS Foundation; the Doris Duke Charitable Foundation to M. A. D.; institutional funds from the Children's Hospital of Philadelphia; the Roy & Diana Vagelos Scholars Program in Molecular Life Sciences at the University of Pennsylvania; intramural funding from the University of Lubeck (Schwerpunktprogramm, Medizinische Genetik: Von seltenen Varianten zur Krankheitsentstehung) to F.J.K.; the German Federal Ministry of Education and Research (B.M.B.F.) under the frame of E-Rare-2 (TARGET-CdLS to F.J.K.); the ERA-Net for Research on Rare Diseases, Research Program of Innovative Cell Biology by Innovative Technology and Grant-in-Aid for Scientific Research to K. S.; the Region of Tuscany to A. M.; the UK Medical Research Council to D. R. F. and M. A.; the Spanish Ministry of Health Fondo de Investigacion Sanitaria (FIS) [PI12/01318]; the Diputacion General de Aragon (Grupo Consolidado B20); CIBERER (GCV-HCULB Zaragoza); the European Social Fund to J.P.; the Australian Research Council to M. B., the National Health and Medical Research Council to M. B., the Victorian Government's Operational Infrastructure Support Program, as well as Australian Government National Health and Medical Research Council IRIISS support to M. B. and P. D. Sequencing 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 (1U54HG006493 to Drs Debbie Nickerson, Jay Shendure and Michael Bamshad). Work was performed under the FORGE Canada and Care4Rare Canada Consortiums funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute (OGI-049), Ontario Research Fund, Genome Quebec, Genome British Columbia and CHEO Foundation.