genetic basis of human disease (selected publications)

 

 


Findlay et al. Accurate classification of BRCA1 variants with saturation genome editing. Nature (2018)
PMID: 30209399
(with Starita Lab)
PDF

Starita et al. A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function. AJHG (2018)
PMID: 30219179
(with Parvin Lab)
PDF

 

 


Gasperini, Findlay et al. CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions. AJHG (2017)
PMID: 28712454
PDF

Shendure. Human genomics: A deep dive into genetic variation. Nature (2016)
PMID: 27535530
PDF

 

 


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)
PDF

Fairfield et al. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Research (2015)
PMID: 25917818
(with Reinholdt Lab)
PDF

 

 


O'Roak, Stessman et al. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nature Communications (2014)
PMID: 25418537
(with Eichler Lab)
PDF

Iossifov, O'Roak, Sanders, Ronemus et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature (2014)
PMID: 25363768
(with Wigler, State, Eichler Labs)
PDF

 

 


Kumar et al. Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course. PLoS One (2014)
PMID: 25192356
PDF

O'Roak et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012)
PMID: 22495309
(with Eichler Lab)
PDF

 

 


Bamshad et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics (2011)
PMID: 21946919
PDF

Cooper & Shendure. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nature Reviews Genetics (2011)
PMID: 21850043
PDF

 

 


Shendure. Next-generation human genetics. Genome Biology (2011)
PMID: 21920048
PDF

Ng, Buckingham et al. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics (2010)
PMID: 19915526
(with Bamshad Lab)
PDF

 

 


Ng, Bigham et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics (2010)
PMID: 20711175
(with Bamshad Lab)
PDF

Ng et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009)
PMID: 19684571
PDF