Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Li Xin Zhang(Centre Hospitalier Universitaire Sainte-Justine), Yuri A. Zárate(University of Kentucky), Marcello Niceta(Bambino Gesù Children's Hospital), Jennifer A. Bassetti(Cornell University), Ingrid A. Holm(Boston Children's Hospital), Millan S. Patel(University of British Columbia), Boris Keren(Sorbonne Université), Philip M. Boone(Broad Institute), Carolina I. Galaz-Montoya(Baylor College of Medicine), Elaine H. Zackai(Children's Hospital of Philadelphia), Giovanni Battista Ferrero(5T Torino (Italy)), Mary K. Kukolich(Cook Children's Health Care System), Jennifer Tarpinian(Children's Hospital of Philadelphia), David S. Liu(The University of Melbourne), Frank J. Probst(Baylor College of Medicine), Beth Keena(Children's Hospital of Philadelphia), Jacqueline Aziza, Kinattinkara R. Subbaraman(Government Medical College), Alberto Fernández‐Jaén(Hospital Universitario Quirónsalud Madrid), Chester Brown(Carle Foundation Hospital), Maria Lisa Dentici(Casa Sollievo della Sofferenza), Sheela Nampoothiri(Amrita Institute of Medical Sciences and Research Centre), Para Chottil Soumya(Government Medical College), David Mowat(New South Wales Department of Health), Christine Coubes, Gabrielle Lemire(Broad Institute), Alper Gezdirici(İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi), Marco Tartaglia(Istituto Superiore di Sanità), Amelle Shillington(Cincinnati Children's Hospital Medical Center), Reid Sutton(Baylor College of Medicine), A. Micheil Innes(University of Calgary), Sarah L. Sawyer(Children's Hospital of Eastern Ontario), Charlotte Dubucs, Richard A. Gibbs(Baylor College of Medicine), Francesca Clementina Radio(Bambino Gesù Children's Hospital), Natalie Hauser(National Institutes of Health), Sirinart Molidperee(Centre Hospitalier Universitaire Sainte-Justine), Emma Bedoukian(Vienna Biocenter), Francisco Cammarata‐Scalisi(University of the Andes), Kosuke Izumi(Children's Hospital of Philadelphia), Grace U. Ediae(Children's Hospital of Eastern Ontario), Constance Wells(Génétique Médicale & Génomique Fonctionelle), Claudia Gonzaga‐Jauregui(Duke University), Elizabeth Bhoj(Children's Hospital of Philadelphia), Dong Li(Children's Hospital of Philadelphia), Ana Bracho(Universidad del Zulia), Annie Laquerrière(Inserm), Karippoth Mohandas Nair(Government Medical College), Alyssa Ritter(Children's Hospital of Philadelphia), Alain Verloès(Assistance Publique – Hôpitaux de Paris)
Genetics in Medicine
May 18, 2020
Cited by 62


Related Papers