Mosaic mutations in early-onset genetic diseases
Matt Halvorsen, Slave Petrovski, Renee Shellhaas, Yingying Tang, Laura Crandall, David Goldstein, Orrin Devinsky
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2016
Awarded by National Institute of Neurological Disorders and Stroke (the Epilepsy Phenome/Genome Project)
Awarded by Epi4K-Sequencing, Biostatistics and Bioinformatics Core
The authors are grateful for the participation of the affected families and researchers in the SUDC Registry and Research Collaborative, as well as the Epilepsy Phenome/Genome Project. The authors gratefully acknowledge the contributions of the following colleagues: Dawei Wang, Ann Poduri, Mark Hannibal, Michael Ackerman, and David Tester; Sergey Kisselev, Donna Dorshorst, and Prevention Genetics. This study was supported by grants from the National Institute of Neurological Disorders and Stroke (the Epilepsy Phenome/Genome Project (NS053998); Epi4K-Sequencing, Biostatistics and Bioinformatics Core (NS077303)), as well as funding from the Lange Shaw Family Foundation and Finding a Cure for Epilepsy and Seizures. The authors also thank the Exome Aggregation Consortium and the groups that provided exome variant data for comparison (http://exac.broadinstitute.org/about).