Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
Authors: Megan Yabumoto; Jessica Kianmahd; Meghna Singh; Maria F Palafox; Angela Wei; Kathryn Elliott; Dana H Goodloe; S Joy Dean; Catherine Gooch; Brianna K Murray; Erin Swartz; Samantha A Schrier Vergano; Meghan C Towne; Kimberly Nugent; Elizabeth R Roeder; Christina Kresge; Beth A Pletcher; Katheryn Grand; John M Graham Jr; Ryan Gates; Natalia Gomez-Ospina; Subhadra Ramanathan; Robin Dawn Clark; Kimberly Glaser; Paul J Benke; Julie S Cohen; Ali Fatemi; Weiyi Mu; Kristin W Baranano; Jill A Madden; Cynthia S Gubbels; Timothy W Yu; Pankaj B Agrawal; Mary-Kathryn Chambers; Chanika Phornphutkul; John A Pugh; Kate A Tauber; Svetlana Azova; Jessica R Smith; Anne O'Donnell-Luria; Hannah Medsker; Siddharth Srivastava; Deborah Krakow; Daniela N Schweitzer; Valerie A Arboleda
Collaborators: Albany Medical Center; Baylor College of Medicine; Boston Children's Hospital; Brown University; Children's Hospital of The King's Daughters; David Geffen School of Medicine, UCLA; Harvard Medical School; Joe DiMaggio Children's Hospital; Johns Hopkins Medical Institution; Kennedy Krieger Institute; Loma Linda University Children's Hospital; Mass General Brigham Laboratory for Molecular Medicine; Rutgers Cancer Institute of New Jersey; Stanford; University of Alabama at Birmingham; Washington University School of Medicine, St. Louis Children’s Hospital