Publication
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle G. Shillington, Kosuke Izumi, Alyssa L. Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M. Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid V. Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance F. Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan S. Patel, Ana Bracho, Francisco Cammarata-Scalisi, Alper Gezdirici, Alberto Fernandez-Jaen, Natalie Hauser, Yuri A. Zarate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan H. Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau
Genetics in Medicine, May 2020, Springer Science + Business Media
DOI: 10.1038/s41436-020-0811-8