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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, et al.
Gastroenterology|May 17, 2011
Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II allelesM Isabel Lucena, Mariam Molokhia, Yufeng Shen, et al.
American Journal of Human Genetics|October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
Plos Genetics|February 7, 2009
A genome-wide investigation of SNPs and CNVs in schizophreniaAnna C Need, Dongliang Ge, Michael E Weale, et al.
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Nature Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
The Journal of Experimental Medicine|June 22, 2023
Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patientsAdrian Gervais, Francesca Rovida, Maria Antonietta Avanzini, et al.
The New England Journal of Medicine|January 13, 2012
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletionsMichael J Ombrello, Elaine F Remmers, Guangping Sun, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
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