المؤلفون: Lines MA; Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Cuillerier A; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Chakraborty P; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.; Newborn Screening Ontario, Ottawa, ON, Canada., Naas T; Newborn Screening Ontario, Ottawa, ON, Canada., Duque Lasio ML; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Michaud J; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON, Canada., Pileggi C; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Harper ME; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Burelle Y; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.; Interdisciplinary School of Health Sciences, Faculty of Health Sciences, University of Ottawa, Ottawa, ON, Canada., Toler TL; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology Program, Sick Kids Research Institute, Toronto, ON, Canada.; Departments of Pediatrics and Molecular Genetics, University of Toronto, Toronto, ON, Canada., Crawford HP; Innovative Genetics Care, The Woodlands, TX, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Geraghty MT; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. mgeraghty@cheo.on.ca.; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada. mgeraghty@cheo.on.ca.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Nov; Vol. 29 (11), pp. 1719-1724. Date of Electronic Publication: 2021 Sep 06.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Diseases/*genetics , Mitochondrial Proton-Translocating ATPases/*metabolism, Catalytic Domain ; Cells, Cultured ; Child, Preschool ; Female ; Fibroblasts/metabolism ; Humans ; Infant ; Male ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; Mitochondrial Proton-Translocating ATPases/chemistry ; Mitochondrial Proton-Translocating ATPases/genetics ; Mutation ; Phenotype

المؤلفون: 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.

مؤلفون مشاركون: DDD Study, Care4Rare Canada Consortium, CAUSES Study, Undiagnosed Diseases Network

المصدر: Science advances [Sci Adv] 2020 Dec 02; Vol. 6 (49). Date of Electronic Publication: 2020 Dec 02 (Print Publication: 2020).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

مواضيع طبية MeSH: Histones*/genetics , Histones*/metabolism , Neurodegenerative Diseases*/genetics, Animals ; Forkhead Transcription Factors/genetics ; Germ-Line Mutation ; Humans ; Zebrafish/genetics ; Zebrafish/metabolism ; Zebrafish Proteins/metabolism

المؤلفون: Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S

مؤلفون مشاركون: Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics

المصدر: American journal of human genetics [Am J Hum Genet] 2020 Jan 02; Vol. 106 (1), pp. 137. Date of Electronic Publication: 2019 Dec 24.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Carapito R; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address: carapito@unistra.fr., Ivanova EL; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France., Morlon A; BIOMICA SAS, 4 rue Boussingault, 67000 Strasbourg, France., Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Molitor A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Erdmann E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France., Kieffer B; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France., Pichot A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Naegely L; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Kolmer A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Paul N; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Hanauer A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Tran Mau-Them F; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Jean-Marçais N; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Tvrdik T; ARUP Laboratories, Salt Lake City, UT 84108, USA., Muir AM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Dimartino C; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France., Chopra M; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France; Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2050, Australia., Amiel J; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France., Dutreux F; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France., Garde A; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Thauvin-Robinet C; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Phillips M; Cook Children's Medical Center, Fort Worth, TX 76102, USA., Crawford HP; Cook Children's Medical Center, Fort Worth, TX 76102, USA., Kukolich MK; Cook Children's Medical Center, Fort Worth, TX 76102, USA., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Kharbanda M; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Smigiel R; Department of Pediatrics and Rare Disorders, Wroclaw Medical University, 50-368 Wroclaw, Poland., Gold N; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hung CY; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Viskochil DH; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA., Dugan SL; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT 84108, USA; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA., Joly-Helas G; Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, 76821 Rouen, France., Guerrot AM; Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, 76821 Rouen, France., Schluth-Bolard C; Department of Genetics, Hospices Civils de Lyon, GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677 Bron, France., Rio M; Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Wentzensen IM; GeneDx Inc., Gaithersburg, MD 20877, USA., McWalter K; GeneDx Inc., Gaithersburg, MD 20877, USA., Schnur RE; GeneDx Inc., Gaithersburg, MD 20877, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Mensah-Bonsu N; Texas Children's Hospital, Houston, TX 77030, USA., Céraline J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France; Service d'Onco-Hématologie, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France., Sun Z; Comprehensive Cancer Center and Beckman Research Institute, City of Hope, Duarte, CA 91010, USA., Ploski R; Department of Medical Genetics, Warsaw Medical University, 02-106 Warsaw, Poland., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France., Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA., Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, 1 rue Laurent Fries, 67404 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France., Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 44093 Nantes, France., Bahram S; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address: siamak@unistra.fr.

مؤلفون مشاركون: Deciphering Developmental Disorders Study; The Wellcome Sanger Institute, Hinxton CB10 1SA, UK., University of Washington Center for Mendelian Genomics

المصدر: American journal of human genetics [Am J Hum Genet] 2019 Feb 07; Vol. 104 (2), pp. 319-330. Date of Electronic Publication: 2019 Jan 10.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, Developmental Disabilities/*genetics , Intellectual Disability/*genetics , Transcription Factors/*genetics, Alleles ; Animals ; Child ; Child, Preschool ; Developmental Disabilities/pathology ; Female ; Humans ; Infant ; Intellectual Disability/pathology ; Male ; Mice ; Syndrome ; Transcription Factors/chemistry ; Transcription Factors/metabolism

المؤلفون: Straub J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Grüner J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours, 37044 Tours, France., Bok LA; Department of Pediatrics, Máxima Medical Center, 5504 DB Veldhoven, the Netherlands., Cho MT; GeneDx, Gaithersburg, MD 20877, USA., Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76102, USA., Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Douglas G; GeneDx, Gaithersburg, MD 20877, USA., Jobling R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Johnson D; Sheffield Children's Hospital, Sheffield S10 2TH, UK., Krock B; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA., Nesbitt A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Nicolai J; Department of Neurology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Phillips M; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76102, USA., Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Ortiz-Gonzalez XR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Pereleman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Powis Z; Ambry Genetics, Aliso Viejo, CA 92656, USA., Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Stumpel C; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Vreeburg M; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Fliedner A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address: christiane.zweier@uk-erlangen.de.

مؤلفون مشاركون: Deciphering Developmental Disorders Study; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

المصدر: American journal of human genetics [Am J Hum Genet] 2018 Jan 04; Vol. 102 (1), pp. 44-57. Date of Electronic Publication: 2017 Dec 21.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Drosophila Proteins/*genetics , Drosophila melanogaster/*genetics , Epilepsy/*genetics , GTP-Binding Proteins/*genetics , Mutation, Missense/*genetics , Tumor Suppressor Proteins/*genetics, Adolescent ; Amino Acid Sequence ; Animals ; Behavior, Animal ; Child ; Child, Preschool ; Dendrites/metabolism ; Female ; GTP-Binding Proteins/chemistry ; Gene Dosage ; HEK293 Cells ; Humans ; Male ; Phenotype ; Synapses/pathology ; Tumor Suppressor Proteins/chemistry

المؤلفون: Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR

المصدر: American journal of human genetics [Am J Hum Genet] 2013 Aug 08; Vol. 93 (2), pp. 197-210. Date of Electronic Publication: 2013 Jun 27.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Base Sequence* , Genetic Predisposition to Disease* , Sequence Deletion*, Aging, Premature/*genetics , Language Development Disorders/*genetics , Leukoencephalopathies/*genetics , Tetraspanins/*genetics, Age of Onset ; Aging, Premature/complications ; Aging, Premature/ethnology ; Aging, Premature/pathology ; Asian People ; Brain/metabolism ; Brain/pathology ; Child ; Child, Preschool ; Chromosomes, Human, Pair 2 ; Exons ; Female ; Humans ; Language Development Disorders/complications ; Language Development Disorders/ethnology ; Language Development Disorders/pathology ; Leukoencephalopathies/complications ; Leukoencephalopathies/ethnology ; Leukoencephalopathies/pathology ; Magnetic Resonance Imaging ; Male ; Molecular Sequence Data ; Pedigree ; Sequence Analysis, DNA

المؤلفون: Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Dec; Vol. 20 (12), pp. 1240-7. Date of Electronic Publication: 2012 May 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Deletion* , Genotype* , Phenotype*, Cell Adhesion Molecules, Neuronal/*genetics , Exons/*genetics , Intellectual Disability/*diagnosis , Intellectual Disability/*genetics , Nerve Tissue Proteins/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Calcium-Binding Proteins ; Child ; Child Development Disorders, Pervasive/diagnosis ; Child Development Disorders, Pervasive/genetics ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Introns ; Male ; Microarray Analysis ; Muscle Hypotonia/congenital ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Neural Cell Adhesion Molecules ; Protein Isoforms/genetics