PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Philippe M. Campeau(Centre Hospitalier Universitaire Sainte-Justine), Karen Stals(Royal Devon & Exeter NHS Foundation Trust), Kristin Barañano(Johns Hopkins University), Grazia M.S. Mancini(Erasmus MC), Roger L. Ladda(Penn State Milton S. Hershey Medical Center), Bushra Afroze(Aga Khan University), Fatima Ismail(Johns Hopkins University), Saskia B. Wortmann(Paracelsus Medical University), Andrew C. Edmondson(Translational Therapeutics (United States)), Stéphanie Efthymiou(Queen Mary University of London), Mohammad Doosti, Yuta Maki(The University of Osaka), Melissa Walker(Massachusetts General Hospital), Georg M. Stettner(University of Zurich), Danilo Bernardo(University of California, San Francisco), Shahnaz Ibrahim(Aga Khan University Hospital), Anna Lehman(University of British Columbia), Heather M. McLaughlin, Christina T. Rüsch(University of Zurich), Marilena Christoforou(Queen Mary University of London), Kimberly Nugent(Baylor College of Medicine), Tahsin Stefan Barakat(Erasmus MC), Rani Sachdev(Victorian Clinical Genetics Services), Naila Ismayilova(Chelsea and Westminster Hospital), Farah Ashrafzadeh(Mashhad University of Medical Sciences), Salman Kirmani(Aga Khan University), Rebecca Truty(Invitae (United States)), Usha Kini(Oxford University Hospitals NHS Trust), Amanda Nagy(Massachusetts General Hospital), Matias Wagner(Helmholtz Zentrum München), Elizabeth E. Palmer(The University of Sydney), Thi Tuyet Mai Nguyen(Centre Hospitalier Universitaire Sainte-Justine), Rebecca Macintosh(Birmingham Children's Hospital), Robert Steinfeld(University of Göttingen), Ehsan Ghayoor Karimiani(St George's, University of London), Taroh Kinoshita(The University of Osaka), Julie S. Cohen(Kennedy Krieger Institute), Sonal Mahida(Kennedy Krieger Institute), Fizza Akbar(Aga Khan University), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Sian Ellard(University of Exeter), Stylianos E. Antonarakis(University of Geneva), Meisam Babaei(North Khorasan University of Medical Sciences), Saadet Mercimek‐Andrews(University of Toronto), Tipu Sultan(Cukurova University), Scott McLean(Baylor College of Medicine), Millan S. Patel(University of British Columbia), Angela F. Brady(Northwick Park Hospital)
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