Kosmicki, Jack A Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. [electronic resource] - Nature genetics Apr 2017 - 504-510 p. digital Publication Type: Journal Article ISSN: 1546-1718 Standard No.: 10.1038/ng.3789 doi Subjects--Topical Terms: Autism Spectrum Disorder--geneticsExome--geneticsGenetic Predisposition to Disease--geneticsGenetic Variation--geneticsHumansIntellectual Disability--geneticsNeurodevelopmental Disorders--geneticsPhenotype