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Author Title [ Year(Asc)]
Filters: Keyword is Genetic Predisposition to Disease  [Clear All Filters]
2021
Park CY, Zhou J, Wong AK, Chen KM, Theesfeld CL, Darnell RB, et al. Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk. Nat Genet. 2021 ;53(2):166-173.
2020
Richter F, Morton SU, Kim SWon, Kitaygorodsky A, Wasson LK, Chen KM, et al. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 ;52(8):769-777.
2019
Shrine N, Guyatt AL, A Erzurumluoglu M, Jackson VE, Hobbs BD, Melbourne CA, et al. New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. Nat Genet. 2019 ;51(3):481-493.
Zhou J, Park CY, Theesfeld CL, Wong AK, Yuan Y, Scheckel C, et al. Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk. Nat Genet. 2019 ;51(6):973-980.
2018
Zhou J, Theesfeld CL, Yao K, Chen KM, Wong AK, Troyanskaya OG. Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk. Nat Genet. 2018 ;50(8):1171-1179.
Yao V, Wong AK, Troyanskaya OG. Enabling Precision Medicine through Integrative Network Models. J Mol Biol. 2018 ;430(18 Pt A):2913-2923.
Cadoff EB, Sheffer R, Wientroub S, Ovadia D, Meiner V, Schwarzbauer JE. Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia. Clin Genet. 2018 ;94(5):429-437.
2017
Pujol F, Hodgson T, Martinez-Corral I, Prats A-C, Devenport D, Takeichi M, et al. Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report. Arterioscler Thromb Vasc Biol. 2017 ;37(9):1732-1735.
Przytycki PF, Singh M. Differential analysis between somatic mutation and germline variation profiles reveals cancer-related genes. Genome Med. 2017 ;9(1):79.
vonHoldt BM, Shuldiner E, Koch IJanowitz, Kartzinel RY, Hogan A, Brubaker L, et al. Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs. Sci Adv. 2017 ;3(7):e1700398.
2016
Krishnan A, Zhang R, Yao V, Theesfeld CL, Wong AK, Tadych A, et al. Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nat Neurosci. 2016 ;19(11):1454-1462.
Zong W-X, Rabinowitz JD, White E. Mitochondria and Cancer. Mol Cell. 2016 ;61(5):667-676.
Gopalan P, Hao W, Blei DM, Storey JD. Scaling probabilistic models of genetic variation to millions of humans. Nat Genet. 2016 ;48(12):1587-1590.
2015
Chikina MD, Gerald CP, Li X, Ge Y, Pincas H, Nair VD, et al. Low-variance RNAs identify Parkinson's disease molecular signature in blood. Mov Disord. 2015 ;30(6):813-21.
2013
Mitchell C, McLanahan S, Brooks-Gunn J, Garfinkel I, Hobcraft J, Notterman D. Genetic differential sensitivity to social environments: implications for research. Am J Public Health. 2013 ;103 Suppl 1:S102-10.