Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

Authors:	Francisca Millan Megan T. Cho Kyle Retterer Kristin G. Monaghan Renkui Bai Patrik Vitazka David B. Everman Brooke Smith Brad Angle Victoria Roberts LaDonna Immken Honey Nagakura Marc DiFazio Elliott Sherr Eden Haverfield Bethany Friedman Aida Telegrafi Jane Juusola Wendy K. Chung Sherri Bale

Affiliation:	1. GeneDx, Gaithersburg, Maryland;2. Correspondence to:;3. Francisca Millan, GeneDx, 207 Perry Parkway, Gaithersburg, Maryland, MD 20877.;4. E‐mail:;5. Greenwood Genetic Center, Greenville, South Carolina;6. Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois;7. Specially For Children Genetics, Austin, Texas;8. Children's Outpatient Center of Montgomery County, Rockville, Maryland;9. Institute of Human Genetics, University of California, San Francisco, California;10. Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York

Abstract:

Keywords:	neurodevelopmental disorder intellectual disability whole exome sequencing