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Paper Details

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
56
2018
Autism Spectrum Disorder, Congenital Anomalies, Intellectual Disability, LGD, LGD variants, N, N-terminal acetyltransferase A, NAA10, NAA15, NatA, NatA complex, X-linked infantile lethal Mendelian disorder, autism spectrum disorder, c, cell lines, congenital cardiac anomalies, copy-number variant (CNV) deletions, craniofacial dysmorphology, decreased growth, dysmorphic features, haploinsufficiency, human, humans, intellectual disability, motor delays, neurodevelopmental disorders, seizures, transcripts, yeast
Author NameAffiliation
Jennifer E PoseyBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine
Vernon R SuttonBaylor College of Medicine
Sakkubai NaiduKennedy Krieger Institute
Karin S KassahnWomen's and Children's Hospital, University of Adelaide
Bert B A de VriesRadboud University Medical Center
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Evan E EichlerUniversity of Washington School of Medicine, USA Howard Hughes Medical Institute, University of Washington
Evan E EichlerUniversity of Washington School of Medicine, USA Howard Hughes Medical Institute, University of Washington
Yaping YangBaylor College of Medicine
James R LupskiBaylor College of Medicine, USA Human Genome Sequencing Center of Baylor College of Medicine
James R LupskiBaylor College of Medicine, USA Human Genome Sequencing Center of Baylor College of Medicine
Gregory M CooperHudsonAlpha Institute for Biotechnology
Gregory M CooperHudsonAlpha Institute for Biotechnology
Wendy K ChungColumbia University Medical Center
Wendy K ChungColumbia University Medical Center
Linyan MengBaylor College of Medicine
Gholson J LyonStanley Institute for Cognitive Genomics
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