genetic basis of human disease (selected publications)


Kumar, Coleman et al. Substantial interindividual and limited intraindividual genomic diversity among tumors from men with metastatic prostate cancer. Nature Medicine (2016)
PMID: 26928463
(with Nelson Lab)
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Shendure & Akey. The origins, determinants, and consequences of human mutations. Science (2015)
PMID: 26404824
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O'Roak, Stessman et al. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nature Communications (2014)
PMID: 25418537
(with Eichler Lab)
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Kircher, Witten et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics (2014)
PMID: 24487276
(with Cooper Lab)
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Kumar et al. Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course. PLoS One (2014)
PMID: 25192356
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O'Roak et al. Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders. Science (2012)
PMID: 23160955
(with Eichler Lab)
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Bamshad et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics (2011)
PMID: 21946919
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Kumar et al. Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. PNAS (2011)
PMID: 21949389
(with Nelson Lab)
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Shendure. Next-generation human genetics. Genome Biology (2011)
PMID: 21920048
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O'Roak et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics (2011)
PMID: 21572417
(with Eichler Lab)
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Ng, Bigham et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics (2010)
PMID: 20711175
(with Bamshad Lab)
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Ng et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009)
PMID: 19684571
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