Publications
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Author Title [ Year
Filters: Keyword is Genetic Predisposition to Disease [Clear All Filters]
Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 ;52(8):769-777.
. New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. Nat Genet. 2019 ;51(3):481-493.
. Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk. Nat Genet. 2019 ;51(6):973-980.
. Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk. Nat Genet. 2018 ;50(8):1171-1179.
. Enabling Precision Medicine through Integrative Network Models. J Mol Biol. 2018 ;430(18 Pt A):2913-2923.
. Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia. Clin Genet. 2018 ;94(5):429-437.
. Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report. Arterioscler Thromb Vasc Biol. 2017 ;37(9):1732-1735.
. Differential analysis between somatic mutation and germline variation profiles reveals cancer-related genes. Genome Med. 2017 ;9(1):79.
. . Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nat Neurosci. 2016 ;19(11):1454-1462.
. Mitochondria and Cancer. Mol Cell. 2016 ;61(5):667-676.
. Scaling probabilistic models of genetic variation to millions of humans. Nat Genet. 2016 ;48(12):1587-1590.
. Low-variance RNAs identify Parkinson's disease molecular signature in blood. Mov Disord. 2015 ;30(6):813-21.
. Genetic differential sensitivity to social environments: implications for research. Am J Public Health. 2013 ;103 Suppl 1:S102-10.
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