Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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(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)
Nature Genetics
August 15, 2010
Cited by 1,353Open Access
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