22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A. 2017 ;173(4):1066-1070..
Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma. Oncotarget. 2017 ;8(28):46065-46070..
Alu Insertion Polymorphisms as Evidence for Population Structure in Baboons. Genome Biol Evol. 2017 ;9(9):2418-2427..
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 ;121(4):314-319..
Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563..
Analysis of Genomes and Transcriptomes of Hepatocellular Carcinomas Identifies Mutations and Gene Expression Changes in the Transforming Growth Factor beta Pathway Short title: Prognostic significance of TGF-β signature in liver cancer. Gastroenterology. 2017 ;..
ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol. 2017 ;69(16):2054-2063..
Association between mitochondrial DNA copy number and sudden cardiac death: findings from the Atherosclerosis Risk in Communities study (ARIC). Eur Heart J. 2017 ;..
Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach. PLoS Med. 2017 ;14(1):e1002215..
The association of lipoprotein(a) with incident heart failure hospitalization: Atherosclerosis Risk in Communities study. Atherosclerosis. 2017 ;262:131-137..
Breast cancer chemoprevention pharmacogenomics: Deep sequencing and functional genomics of the ZNF423 and CTSO genes. NPJ Breast Cancer. 2017 ;3:30..
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Hum Mutat. 2017 ;38(6):669-677..
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2017 ;..
CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 ;..
Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma. Cell. 2017 ;169(7):1327-1341.e23.
Comprehensive Genomic Characterization of Upper Tract Urothelial Carcinoma. Eur Urol. 2017 ;72(4):641-649..
Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. Exp Eye Res. 2017 ;166:120-130..
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 ;54(1):47-53..
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 ;173(3):733-739..
Creating a data resource: what will it take to build a medical information commons?. Genome Med. 2017 ;9(1):84..
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;100(2):352-363..
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;101(5):716-724..
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 ;49(4):527-536..
Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. 2017 ;8(3):519-528..
Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. Pediatr Neurol. 2017 ;66:53-58.e5..