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A framework for the interpretation of de novo mutation in human disease

20141,115 citationsJournal Articlegreen Open Access

Authors

Kaitlin E. Samocha · Harvard University

Elise Robinson · Harvard University

Stephan Sanders · Yale University

Christine Stevens · Broad Institute

Aniko Sabo · Baylor Genetics

Lauren M. McGrath · Harvard University

Jack A. Kosmicki ·

Topics & Keywords

Genomics and Rare Diseases RNA and protein synthesis mechanisms CRISPR and Genetic Engineering

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Nature Genetics

Volume 46, Issue 9, pp. 944-950

DOI: 10.1038/ng.3050

Field-Weighted Citation Impact: 78.63

A framework for the interpretation of de novo mutation in human disease | Researchclopedia

Massachusetts General Hospital

Karola Rehnström · Institute for Molecular Medicine Finland

Swapan Mallick · Harvard University

Andrew Kirby · Harvard University

Dennis P. Wall · Center for Systems Biology

Daniel G. MacArthur · Broad Institute

Stacey Gabriel · Broad Institute

Mark A. DePristo

Shaun Purcell · Broad Institute

Aarno Palotie · Harvard University

Eric Boerwinkle · Baylor Genetics

Joseph D. Buxbaum · Icahn School of Medicine at Mount Sinai

Edwin H. Cook · University of Illinois Chicago

Richard A. Gibbs · Baylor Genetics

Gerard D. Schellenberg · University of Pennsylvania

James S. Sutcliffe · Vanderbilt University

Bernie Devlin · University of Pittsburgh

Kathryn Roeder · Carnegie Mellon University

Benjamin M. Neale · Broad Institute

Mark J. Daly · Broad Institute