Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder
Mythily Ganapathi(Columbia University Irving Medical Center), Wendy K. Chung(Oregon Health & Science University), Joanna Lee(Lurie Children's Hospital), Kentaro Yamada(Indiana University School of Medicine), Raghavendra G. Mirmira(University of Chicago), Yufeng Shen(Advanced Coatings (Belgium)), Barry Wolf(Lurie Children's Hospital), Charles A. LeDuc(Columbia University Irving Medical Center), Danielle Karlowicz(Duke Medical Center), Liyong Deng(Columbia University Irving Medical Center), Marie McDonald(Duke University), Teresa L. Mastracci(Indiana University Indianapolis), Rebecca Willaert, Julia Tagoe(University of Calgary), Volkan Okur(MACOM (United States)), Ashleigh S. Hanner(National Institutes of Health), Leah R. Padgett(Indiana Biosciences Research Institute), Myung Hee Park(National Institutes of Health), Ping‐Yee Billie Au(University of Calgary), Orrin Devinsky(New York University), Richard Person(Baylor College of Medicine), Jiayao Wang(Columbia University Irving Medical Center)
Cited by 68
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Pediatric Pulmonary Hypertension
|Circulation|2015|1.1k