Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Tobias B. Haack(Helmholtz Zentrum München), Penelope Hogarth(Oregon Health & Science University), Michael C. Kruer(Sanford Research), Allison Gregory(Oregon Health & Science University), Thomas Wieland(Helmholtz Zentrum München), Thomas Schwarzmayr(Helmholtz Zentrum München), Elisabeth Graf(Helmholtz Zentrum München), Lynn Sanford(Oregon Health & Science University), Esther Meyer(Great Ormond Street Hospital), Eleanna Kara(National Hospital for Neurology and Neurosurgery), Stephan M. Cuno(Helmholtz Zentrum München), Sami I. Harik(University of Arkansas for Medical Sciences), Vasuki Dandu(University of Arkansas for Medical Sciences), Nardo Nardocci, Giovanna Zorzi, Todd Dunaway(University of Tulsa), Mark A. Tarnopolsky(McMaster University Medical Centre), Steven A. Skinner(Greenwood Genetic Center), Steven J. Frucht(Icahn School of Medicine at Mount Sinai), Era Hanspal(Albany Medical Center Hospital), Connie Schrander‐Stumpel(Maastricht University Medical Centre), Delphine Héron(Sorbonne Université), Cyril Mignot(Sorbonne Université), Barbara Garavaglia(Fondazione IRCCS Istituto Neurologico Carlo Besta), Kailash P. Bhatia(National Hospital for Neurology and Neurosurgery), John Hardy(National Hospital for Neurology and Neurosurgery), Tim M. Strom(Helmholtz Zentrum München), Nathalie Boddaert(Hôpital Necker-Enfants Malades), Henry Houlden(National Hospital for Neurology and Neurosurgery), Manju A. Kurian(Great Ormond Street Hospital), Thomas Meitinger(Helmholtz Zentrum München), Holger Prokisch(Helmholtz Zentrum München), Susan J. Hayflick(Oregon Health & Science University)
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