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Autor:
Chen CA; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas., Crutcher E; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.; Development, Disease Models, and Therapeutics Graduate Program, Baylor College of Medicine, Houston, Texas., Gill H; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, Vancouver, British Columbia, Canada., Nelson TN; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Robak LA; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas., Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Prasad C; Genetics and Development, Children's Health Research Institute, London, Ontario, Canada.; Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Berard RA; Genetics and Development, Children's Health Research Institute, London, Ontario, Canada.; Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Division of Rheumatology, Children's Hospital, London, Ontario, Canada., Fannemel M; Department of Medical Genetics, Rikshospitalet, Oslo University Hospital, Oslo, Norway., Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Yang Y; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.; AiLife Diagnostics, Pearland, Texas., Schaaf CP; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Wang X; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.; AiLife Diagnostics, Pearland, Texas.
Publikováno v:
Human mutation [Hum Mutat] 2020 Oct; Vol. 41 (10), pp. 1738-1744. Date of Electronic Publication: 2020 Jul 19.
Autor:
Gu S; Department of Molecular and Human Genetics, Faculty of Medicine, Baylor College of Medicine, Houston, Texas.; School of Biomedical Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong S.A.R., Chen CA; Department of Molecular and Human Genetics, Faculty of Medicine, Baylor College of Medicine, Houston, Texas., Rosenfeld JA; Department of Molecular and Human Genetics, Faculty of Medicine, Baylor College of Medicine, Houston, Texas., Cope H; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina., Launay N; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Flanigan KM; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio., Waldrop MA; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio., Schrader R; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio., Juusola J; GeneDx, Inc., Gaithersburg, Maryland., Goker-Alpan O; National Gaucher Foundation, Bethesda, Maryland., Milunsky A; Center for Human Genetics and Department of Obstetrics & Gynecology, Tufts University School of Medicine, Boston, Massachusetts., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Troncoso M; Child Neurology Service, Hospital San Borja Arriarán, Universidad de Chile, Santiago, Chile., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain., Tan QK; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Meng L; Department of Molecular and Human Genetics, Faculty of Medicine, Baylor College of Medicine, Houston, Texas.; Baylor Genetics, Houston, Texas.
Publikováno v:
Human mutation [Hum Mutat] 2020 Mar; Vol. 41 (3), pp. 632-640. Date of Electronic Publication: 2019 Nov 25.