Journal article

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Karma Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, Kiet Hua, Christine R Isabella, Ian G Phelps, Allan E Stolarski, Brian J O'Roak, Jennifer C Dempsey, Charles Lourenco, Abdulrahman Alswaid, Carsten G Boennemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J Leventer, Meral Topcu, Ali Cansu, Sujatha Jagadeesh, Stephen Done Show all

American Journal of Human Genetics | CELL PRESS | Published : 2014

Grants

Awarded by Swiss National Science Foundation


Awarded by March of Dimes Foundation


Awarded by National Institute of Neurological Disorders and Stroke of the National Institutes of Health


Awarded by National Institute of Neurological Disorders and Stroke of the National Institutes of Health (University of Washington Intellectual and Developmental Disabilities Research Center Genetics Core)


Funding Acknowledgements

Our deepest thanks go to all of the individuals with Joubert syndrome and their families. This work was supported in part by the Swiss National Science Foundation (PZ00P3_142404 to R.B.-G.), the March of Dimes Foundation (5-FY09-29 to R.J.F.), and the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (R01NS064077 and University of Washington Intellectual and Developmental Disabilities Research Center Genetics Core P30HD002274 to D.D. and R01NS064283 to R.J.F.). We also acknowledge private donations from the families of children with Joubert syndrome.