Jay Shendure - Researcher Profile | RDL Research Database

Publications

6 shown

The single-cell transcriptional landscape of mammalian organogenesis

Junyue Cao , Malte Spielmann , Xiaojie Qiu +9 more

2019 Nature 4143 citations

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch , Daniela Witten , Gregory M. Cooper +2 more

Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particula...

2018 Nucleic Acids Research 3566 citations

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J. Bamshad , Sarah Ng , Abigail W. Bigham +4 more

2011 Nature Reviews Genetics 1667 citations

Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur , Teri A. Manolio , David Dimmock +24 more

2014 Nature 1251 citations

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Wenqing Fu , Timothy D. O’Connor , Goo Jun +11 more

2012 Nature 1000 citations

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Jessica X. Chong , Kati J. Buckingham , Shalini N. Jhangiani +39 more

2015 The American Journal of Human Genetics 673 citations

Frequent Co-Authors

Researcher Info

h-index: 6
Publications: 6
Citations: 12,300
Institution: Brotman Baty Institute

External Links

ORCID Profile Google Scholar

Identifiers

ORCID: 0000-0002-1516-1865

Impact Metrics

h-index 6

h-index: Number of publications with at least h citations each.