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Exome sequencing identifies the cause of a mendelian disorder | Researchclopedia

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Exome sequencing identifies the cause of a mendelian disorder

20091,933 citationsJournal Articlebronze Open Access

Authors

Sarah Ng · University of Washington

Kati J. Buckingham · University of Washington

Choli Lee · University of Washington

Abigail W. Bigham · University of Washington

Holly K. Tabor · Seattle Children's Hospital

Karin M. Dent · University of Utah

Chad D. Huff ·

Topics & Keywords

Genomics and Rare Diseases RNA modifications and cancer Genetics and Neurodevelopmental Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Nature Genetics

Volume 42, Issue 1, pp. 30-35

DOI: 10.1038/ng.499

Field-Weighted Citation Impact: 121.66

University of Utah

Paul Shannon · Institute for Systems Biology

Ethylin Wang Jabs · Icahn School of Medicine at Mount Sinai

Deborah A. Nickerson · University of Washington

Jay Shendure · University of Washington

Michael J. Bamshad · Seattle Children's Hospital