Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Authors: Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Mark Hannibal, Margaret J. McMillin, Heidi Gildersleeve, Anita E. Beck, Holly K. Tabor, Gregory M. Cooper, Heather C Mefford, Choli Lee, Emily H. Turner, Joshua D. Smith, Mark J. Rieder, Koh-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A. Nickerson, Michael J. Bamshad, Jay Shendure - Nature Genetics 2010 cited by 1,355