translating genomics to the clinic (selected publications)

 

 


Starita et al. Variant Interpretation: Functional Assays to the Rescue. AJHG (2017)
PMID: 28886340
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Neveling, Mensenkamp et al. BRCA Testing by Single-Molecule Molecular Inversion Probes. Clinical Chemistry (2017)
PMID: 27974384
(with Nelen, Hoischen Labs)
PDF

 

 


Snyder, Kircher et al. Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin. Cell (2016)
PMID: 26771485
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Fields & Shendure. Massively Parallel Genetics. Genetics (2016)
PMID: 27270695
PDF

 

 


Starita et al. Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. Genetics (2015)
PMID: 25823446
(with Fields Lab)
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Kumar, Ryan et al. Whole genome prediction for preimplantation genetic diagnosis. Genome Medicine (2015)
PMID: 26019723
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Salipante, Roach et al. Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains. Genome Research (2014)
PMID: 25373147
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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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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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Snyder et al. Noninvasive fetal genome sequencing: a primer. Prenatal Diagnosis (2013)
PMID: 23553552
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Kohane & Shendure. What's a Genome Worth? Science Translational Medicine (2012)
PMID: 22572879
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Cooper & Shendure. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nature Reviews Genetics (2011)
PMID: 21850043
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