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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

20101,346 citationsJournal Articlegreen Open Access

Authors

Sarah Ng · University of Washington

Abigail W. Bigham · University of Washington

Kati J. Buckingham · University of Washington

Mark Hannibal · Seattle Children's Hospital

Margaret J. McMillin · University of Washington

Heidi Gildersleeve · University of Washington

Anita E. Beck ·

Topics & Keywords

Genomics and Rare Diseases Oral and gingival health research Genomic variations and chromosomal abnormalities

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Nature Genetics

Volume 42, Issue 9, pp. 790-793

DOI: 10.1038/ng.646

Field-Weighted Citation Impact: 84.64

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Researchclopedia

University of Washington

Holly K. Tabor · Seattle Children's Hospital

Gregory M. Cooper · University of Washington

Heather C Mefford · University of Washington

Choli Lee · University of Washington

Emily H. Turner · University of Washington

Joshua D. Smith · University of Washington

Mark J. Rieder · University of Washington

Koh-ichiro Yoshiura · Nagasaki University

Naomichi Matsumoto · Yokohama City University

Tohru Ohta · Health Sciences University of Hokkaido

Norio Niikawa · Health Sciences University of Hokkaido

Deborah A. Nickerson · University of Washington

Michael J. Bamshad · University of Washington

Jay Shendure · University of Washington