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Autor:
Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cox SG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA., Marchione D; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Joiner EF; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA., Wilson K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Janssen K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Nair D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA., Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA., Wierenga KJ; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Wadley A; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands., Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA., van de Kamp J; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands., Grebe T; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Dean J; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK., Ross A; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK., Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA., Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA., Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA., Manwaring L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA., Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands., Nava C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France., Afenjar A; Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany., Wagner M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany., Klopstock T; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany., Catarino CB; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany., Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Schuette JL; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA., Innis JW; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA., Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA., Lüttgen S; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany., Strom TM; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany., Monaghan KG; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Yuan ZF; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA., Bend R; Greenwood Genetic Center, Greenwood, SC 29646, USA., Lee JA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Hoefele J; Institut für Humangenetik, Technische Universität München, Munich, Germany., Günthner R; Department of Nephrology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany., Reutter H; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany., Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France., Radtke K; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA., Mrokse C; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Helbig KL; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Odent S; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France., Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France., Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France., Bezieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France., Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France., Kury S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France., Redon R; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France., Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Wojcik MH; Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute, Cambridge, MA 02142, USA., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Ilves P; Radiology Department of Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Innes AM; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H8L1, Canada.; Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Costain G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Meyn MS; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Kitson H; Department of Pediatrics, University of British Columbia, Vancouver, Canada., Martin MG; Division of Gastroenterology and Nutrition, Department of Pediatrics, Mattel Children's Hospital, Los Angeles, CA 90095, USA.; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Palmer CGS; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Papp JC; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Parker NH; David Geffen School of Medicine, Los Angeles, CA 90095, USA., Sinsheimer JS; Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Vilain E; Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA., Wan J; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Yoon AJ; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Zheng A; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA., Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA., Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Carli D; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Thomas JM; Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA., Umana L; Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA., Weiss MM; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands., Gotway G; Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA., Stuurman KE; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Vøllo A; Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Laulund LW; H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Byler M; SUNY Upstate Medical University, Syracuse, NY 13210, USA., Lebel RR; SUNY Upstate Medical University, Syracuse, NY 13210, USA., Hurst AC; University of Alabama at Birmingham, Birmingham, AL 35294, USA., Dean J; University of Alabama at Birmingham, Birmingham, AL 35294, USA., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA., Norman J; INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Neira J; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada., Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA., Sellars E; University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Cathey SS; Greenwood Genetic Center, Greenwood, SC 29646, USA., Brokamp E; Vanderbilt University, Nashville, TN 37203, USA., Heron D; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France., Snyder M; Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA., Simon C; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA., de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain., Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Crump JG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA., Chung W; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA., Garcia B; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Hakonarson HH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. bhoje@email.chop.edu.
Publikováno v:
Science advances [Sci Adv] 2020 Dec 02; Vol. 6 (49). Date of Electronic Publication: 2020 Dec 02 (Print Publication: 2020).
Autor:
Johnson BV; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Kumar R; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Oishi S; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia., Alexander S; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia., Kasherman M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia., Vega MS; Queensland Brain Institute, The University of Queensland, Brisbane, Australia., Ivancevic A; University of Adelaide and Robinson Research Institute, Adelaide, Australia; BioFrontiers Institute, University of Colorado Boulder, Boulder, Colorado., Gardner A; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Domingo D; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Corbett M; University of Adelaide and Robinson Research Institute, Adelaide, Australia., Parnell E; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Yoon S; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Oh T; Department of Medical Genetics, British Columbia Women's Hospital and University of British Columbia, Vancouver, British Columbia, Canada., Lines M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom., Van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark., Mercier S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France., Küry S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France., Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France., Pasquier L; Service de Génétique Clinique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Centre Hospitalier Universitaire Hôpital Sud, Rennes, France., Raynaud M; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Unité Nixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France., Afenjar A; Groupe de Recherche Clinique No. 19, ConCer-LD, Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Centres de Référence Maladies Rares des Déficits Intellectuels de Causes Rares, Paris, France., Billette de Villemeur T; Sorbonne Université, Groupe de Recherche Clinique No. 19, ConCer-LD, Neuropédiatrie, Centres de Référence Maladies Rares Neurogénétique, Institut National de la Santé et de la Recherche Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France., Keren B; Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France., Désir J; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Marangoni M; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium., Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., VanHasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands., Weiss M; Department of Clinical Genetics, Vrije Universiteit University Medical Center, Amsterdam, The Netherlands., Zwijnenburg P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Sa J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Reis CF; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., López-Otín C; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain; Centro de Investigación Biomédica en Red de Cáncer, Spain., Santiago-Fernández O; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain., Fernández-Jaén A; Unidad de Neurología Infantil, Hospital Universitário Quirón Madrid, Madrid, Spain., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Goldstein A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Madan-Khetarpal S; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Infante E; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania., Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Mcdougall C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada., Pena L; Division of Human Genetics, Cincinnati Children's Hospital; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina., Schoch K; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina., Pinto E Vairo F; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Ewing SA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Perry MS; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas., Koenig MK; Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas., Keegan CE; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan., Schuette JL; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan., Asher S; Translational Medicine & Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania., Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina., Smith LD; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina., Rosenfeld JA; Baylor College of Medicine, Houston, Texas., Bhoj E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Kaplan P; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Li D; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Cutcutache I; Translational Medicine, UCB Pharma, Slough, United Kingdom., Page M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium., Armstrong M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium., Lin AE; Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts., Steeves MA; Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts., Hollander ND; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Koboldt DC; Nationwide Children's Hospital, Columbus, Ohio., Bartholomew D; Nationwide Children's Hospital, Columbus, Ohio., Mosher TM; Nationwide Children's Hospital, Columbus, Ohio., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio., Shieh C; David Geffen School of Medicine, University of California-Los Angeles, California., Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California., Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California., Tezcan K; Department of Genetics, Kaiser Permanente, Sacramento, California., Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Danylchuk NR; Department of Genetic Counseling, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Asamoah A; Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky., Jackson KE; Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky., Yachelevich N; Clinical Genetics Services, Department of Pediatrics, New York University School of Medicine, New York, New York., Au M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California., Pérez-Jurado LA; University of Adelaide and Robinson Research Institute, Adelaide, Australia; Women's and Children's Hospital, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia; Hospital del Mar Research Institute, Network Research Centre for Rare Diseases and Universitat Pompeu Fabra, Barcelona, Spain., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Penzes P; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Wood SA; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia., Burne T; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia., Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California; Department of Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California., Piper M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Queensland Brain Institute, The University of Queensland, Brisbane, Australia., Gécz J; University of Adelaide and Robinson Research Institute, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia. Electronic address: Jozef.Gecz@adelaide.edu.au., Jolly LA; University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address: Lachlan.Jolly@adelaide.edu.au.
Publikováno v:
Biological psychiatry [Biol Psychiatry] 2020 Jan 15; Vol. 87 (2), pp. 100-112. Date of Electronic Publication: 2019 Jun 29.
Autor:
Waggoner D; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. dwaggone@genetics.uchicago.edu., Wain KE; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA., Dubuc AM; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Conlin L; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA., Lamb AN; Department of Pathology, ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah, USA., Martin CL; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA., Morton CC; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Department of Obstetrics and Gynecology and Reproductive Biology, Brigham and Women's Hospital, Broad Institute of MIT and Harvard, Harvard Medical School, Boston, Massachusetts, USA.; Division of Evolution and Genomics Science, School of Biological Sciences, Manchester Academic Health Science Center, Manchester, UK., Rasmussen K; Department of Medical Genetics, Marshfield Clinic, Marshfield, Wisconsin, USA., Schuette JL; Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan, USA., Schwartz S; Laboratory Corporation of America® Holdings, Burlington, North Carolina, USA., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA. david.miller2@childrens.harvard.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Oct; Vol. 20 (10), pp. 1105-1113. Date of Electronic Publication: 2018 Jun 18.
Autor:
Dixon MW; a University of Michigan Medical School , Ann Arbor , Michigan , USA., Stem MS; b W.K. Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , Michigan , USA., Schuette JL; c Department of Pediatrics, Division of Genetics , University of Michigan , Ann Arbor , Michigan , USA.; d Department of Human Genetics , University of Michigan , Ann Arbor , Michigan , USA., Keegan CE; c Department of Pediatrics, Division of Genetics , University of Michigan , Ann Arbor , Michigan , USA.; d Department of Human Genetics , University of Michigan , Ann Arbor , Michigan , USA., Besirli CG; b W.K. Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , Michigan , USA.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2016 Dec; Vol. 37 (4), pp. 468-470. Date of Electronic Publication: 2016 Mar 11.
Autor:
Sperry ED; Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan.; Department of the Medical Scientist Training Program, The University of Michigan, Ann Arbor, Michigan., Schuette JL; Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan.; Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, Michigan., van Ravenswaaij-Arts CM; Department of Genetics, University of Groningen, University Medical Centre, Groningen, The Netherlands., Green GE; Department of Otolaryngology-Head and Neck Surgery, The University of Michigan, Ann Arbor, Michigan., Martin DM; Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan.; Department of the Medical Scientist Training Program, The University of Michigan, Ann Arbor, Michigan.; Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, Michigan.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2016 May; Vol. 170A (5), pp. 1148-54. Date of Electronic Publication: 2016 Feb 06.