Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Smeland MF"'
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Autor:
Bassani S; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Chrast J; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland., Ambrosini G; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Voisin N; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Sophia Genetics, St Sulpice, Switzerland., Schütz F; Biostatistics Platform, University of Lausanne, Lausanne, Switzerland., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy., Sirchia F; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy.; Present address: Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Present address: Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Turban L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany., DeMille D; Genomics Analysis 396, ARUP Laboratories, Salt Lake City, UT, USA., Bayrak-Toydemir P; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Nelson GR; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Wong KN; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Duncan L; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA.; Present address: Mayo Clinic, Rochester, MN, USA., Mosera M; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA., Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Kersseboom R; Center for Genetic Developmental Disorders Southwest, Zuidwester, Middelharnis, The Netherlands., Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Hansen GÅM; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA., Carvalho CMB; Pacific Northwest Research Institute (PNRI), Broadway, Seattle, WA, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Flores-Gallegos L; Hospital Ángeles Puebla, Puebla, Mexico., Morales-Toquero R; Hospital Ángeles Puebla, Puebla, Mexico., Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France., Yalcin B; Inserm UMR1231, University of Burgundy, 21000, Dijon, France., Tuttle A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., McCormick L; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Kukolich M; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Klaas O; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Scala M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Operto F; Department of Medicine, Child and Adolescent Neuropsychiatry Unit, Surgery and Dentistry, University of Salerno, Salerno, Italy., Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Writzl K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Pohjola P; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Arikka H; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Calandrini C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Iseli C; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland. alexandre.reymond@unil.ch.
Publikováno v:
Genome medicine [Genome Med] 2024 May 30; Vol. 16 (1), pp. 72. Date of Electronic Publication: 2024 May 30.
Autor:
Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Scala M; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Nagaraj V; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA., Ochenkowska K; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), and Department of Neuroscience, Université de Montréal, Montreal H2X 0A9, Quebec, Canada., Komdeur FL; Section Clinical Genetics, Department of Human Genetics and Amsterdam Reproduction and Development, Amsterdam University Medical Centers, 1105 AZ, Amsterdam, The Netherlands., Liang RA; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, 9019 Tromsø, Norway., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Sultan T; Department of Pediatric Neurology, Children Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Barøy T; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway., Van Ghelue M; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, 9019 Tromsø, Norway., Vona B; Institute of Human Genetics and Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37073 Göttingen, Germany., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Punjab 60000, Pakistan., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Duru KC; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA., Tryon RC; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO 63110, USA., Brauteset LV; Division of Habilitation for Children, Innlandet Hospital Sanderud, Hamar 2312, Norway., Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh EH4 2XU, UK., Hamilton M; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., van Haelst MM; Section Clinical Genetics, Department of Human Genetics and Amsterdam Reproduction and Development, Amsterdam University Medical Centers, 1105 AZ, Amsterdam, The Netherlands., van Haaften G; Department of Genetics, University Medical Center, Utrecht, 3584 CX, The Netherlands., Zara F; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Samarut É; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), and Department of Neuroscience, Université de Montréal, Montreal H2X 0A9, Quebec, Canada., Nichols CG; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO 63110, USA., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, 9019 Tromsø, Norway.; Institute of Clinical Medicine, UiT The Arctic University of Norway, 9019, Tromsø, Norway., McClenaghan C; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1822-1836.
Autor:
Mah-Som AY; Genetics Training Program, Harvard Medical School and Brigham & Women's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Daw J; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA., Huynh D; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA., Wu M; Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena, CA 91125, USA., Creekmore BC; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Burns W; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Holla ØL; Department of Medical Genetics, Telemark Hospital, 3710 Skien, Norway., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway and the Arctic, University of Norway, 9019 Tromsø, Norway., Planes M; Service de Génétique Médicale et Biologie de la Reproduction, and Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, 29200 Brest, France., Uguen K; Service de Génétique Médicale et Biologie de la Reproduction, and Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, 29200 Brest, France; University Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, and Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, 29200 Brest, France; University Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Scholz T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Mensah MA; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Sczakiel HL; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany., Tichy H; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Schreiner E; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria., Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Spaeth CG; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Pena L; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85004, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85004, USA., Seaver LH; Corewell Health Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA., Rodriguez D; Departement of Pediatric Neurology & Reference Centre for Congenital Malformations and Diseases of the Cerebellum, AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau, 75012 Paris, France., Afenjar A; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France., Burglen L; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France., Lee EB; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Chou TF; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA., Weihl CC; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: weihlc@wustl.edu., Shinawi MS; Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mshinawi@wustl.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Nov 02; Vol. 110 (11), pp. 1959-1975. Date of Electronic Publication: 2023 Oct 25.
Autor:
Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wickramasekara RN; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA., Vaccaro C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Robertson B; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hallgren J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Faundes V; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile., Duffourd Y; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 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., Flores-Mendez M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Smiler J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; 10x Genomics, Pleasanton, CA, USA., Pellegrino Da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., March M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Diaz-Rosado A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Choa ZX; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Lim CY; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France., Demurger F; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Mulhern M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Akman C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Andrews M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Constantino J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Snoeck-Streef I; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands., Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Hing A; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Au M; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France., Shen W; University of Utah, Salt Lake City, UT, USA.; Mayo Clinic, Rochester, MN, USA., Mao R; University of Utah, Salt Lake City, UT, USA., Palumbos J; University of Utah, Salt Lake City, UT, USA., Viskochil D; University of Utah, Salt Lake City, UT, USA., Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tifft C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Miller R; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Maffeo J; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Afenjar A; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Doummar D; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Arn P; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA., Macklin-Mantia S; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA., Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Brewer C; Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK., Saggar A; Clinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Pediatric Rehabilitation, University Hospital of North Norway, Norway., Kumar A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK., Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK., Deshpande C; Department of Medical Genetics, Guy's Hospital, London SE1 9RT, UK., Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France., Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Nantes Université, CNRS, INSERM, L'institut du thorax, F-44000 Nantes, France., van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Koudijs S; Department of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Chen JY; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Dredge D; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Pier D; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Wortmann S; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Amalia Children's Hospital, RadboudUMC Nijmegen, Nijmegen, Netherlands., Kamsteeg EJ; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Koch J; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Pollack L; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Weber S; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Sánchez Del Pozo J; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Joset P; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Steindl K; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Rauch A; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; University of Zurich, University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich, URPP Adaptive Brain Circuits in Development and Learning (AdaBD), Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich 8006, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich 8006, Switzerland., Mei D; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Mari F; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Lespinasse J; UF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France., Tran Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Philippe C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Dauriat B; Service de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France., Raymond L; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Moutton S; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Cueto-González AM; Hospital Vall d'Hebron, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Mignot C; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Grotto S; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Renaldo F; AP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France., Drivas TG; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Islam L; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Siedlik JA; Department of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA.; Department of Pediatrics, Division of Genetics Cooper Medical School of Rowan University Cooper University Health Care 3, Cooper Plaza, Camden, NJ, USA., Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Stessman HAF; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
Publikováno v:
Science advances [Sci Adv] 2023 Mar 10; Vol. 9 (10), pp. eade1463. Date of Electronic Publication: 2023 Mar 10.
Autor:
Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Brouillard P; Human Molecular Genetics, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium., Prescott T; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Boon LM; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, University Hospital Saint-Luc, Bruxelles, Belgium., Hvingel B; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway., Nordbakken CV; Department of Clinical Pathology, University Hospital of North Norway, Tromsø, Norway., Nystad M; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway.; Department of Clinical Medicine, University Hospital of North Norway, Tromsø, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital, Skien, Norway oholla@sthf.no., Vikkula M; Human Molecular Genetics, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium.; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, University Hospital Saint-Luc, Bruxelles, Belgium.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Jan; Vol. 60 (1), pp. 57-64. Date of Electronic Publication: 2021 Dec 07.
Autor:
McTiernan N; Department of Biomedicine, University of Bergen, Jonas Lies vei 91, 5020, Bergen, Norway., Tranebjærg L; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Bjørheim AS; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway., Hogue JS; Department of Pediatrics, Madigan Army Medical Center, Tacoma, WA, USA., Wilson WG; Division of Genetics, University of Virginia Health System, Charlottesville, VA, USA., Schmidt B; Division of Genetics, University of Virginia Health System, Charlottesville, VA, USA., Boerrigter MM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Nybo ML; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Laboratory of Molecular Pharmacology, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, 9038, Tromso, Norway., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Arnesen T; Department of Biomedicine, University of Bergen, Jonas Lies vei 91, 5020, Bergen, Norway. Thomas.Arnesen@uib.no.; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway. Thomas.Arnesen@uib.no.; Department of Surgery, Haukeland University Hospital, 5021, Bergen, Norway. Thomas.Arnesen@uib.no.
Publikováno v:
Human genetics [Hum Genet] 2022 Aug; Vol. 141 (8), pp. 1355-1369. Date of Electronic Publication: 2022 Jan 17.
Autor:
Bestetti I; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy., Crippa M; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy., Sironi A; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy., Tumiatti F; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Masciadri M; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, 9019 Tromsø, Norway., Naik S; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Murch O; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff CF14 4XW, UK., Bonati MT; Clinic of Medical Genetics, San Luca Hospital, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Spano A; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy., Cattaneo E; Clinical Genetics Unit, Department of Obstetrics and Gynecology, 'V. Buzzi' Children's Hospital, University of Milan, 20142 Milan, Italy., Mariani M; Pediatric Unit, ASST Lariana, 22100 Como, Italy., Gotta F; Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy., Crosti F; Medical Genetics Laboratory, Clinical Pathology Department, S. Gerardo Hospital, 20900 Monza, Italy., Cavalli P; Clinical Genetics, ASST Cremona, Via Concordia 1, 26100 Cremona, Italy., Pantaleoni C; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20142 Milan, Italy., Natacci F; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy., Milani D; Pediatric Highly Intensive Care, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20142 Milan, Italy., Maitz S; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy.; Service of Medical Genetics, Oncologic Institute of Southern Switzerland, EOC, 6900 Lugano, Switzerland., Selicorni A; Pediatric Unit, ASST Lariana, 22100 Como, Italy., Spaccini L; Clinical Genetics Unit, Department of Obstetrics and Gynecology, 'V. Buzzi' Children's Hospital, University of Milan, 20142 Milan, Italy., Peron A; Child Neuropsychiatry Unit-Epilepsy Center, Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, 20142 Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142 Milan, Italy.; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA., Russo S; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Larizza L; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy., Low K; University Hospitals Bristol NHS Trust, University of Bristol, Bristol BS1 3NU, UK., Finelli P; Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20142 Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20142 Milan, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 May 25; Vol. 23 (11). Date of Electronic Publication: 2022 May 25.
Autor:
Murch O; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. oliver.murch@wales.nhs.uk., Jain V; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Benneche A; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Metcalfe K; Manchester Centre for Genomics Medicine, St. Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Oxford Road, Manchester, UK., Hobson E; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Chandler K; Manchester Centre for Genomics Medicine, St. Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Oxford Road, Manchester, UK., Ghali N; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Harrow, UK., Carmichael J; Oxford Regional Clinical Genetics Service, Northampton General Hospital, Northampton, UK., Foulds NC; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Paulsen J; Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, 9019, Tromsø, Norway., Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 95-100. Date of Electronic Publication: 2021 Oct 14.
Autor:
Weiss K; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. k_weiss@rambam.health.gov.il., Lazar HP; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Cohen L; Genetics Institute, Schneider Children's Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Whalen S; UF de génétique clinique, Centre de Référence Maladies Rares des Anomalies du développement et syndromes malformatifs, APHP, Hôpital Trousseau, Paris, France., Heide S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France., Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France., Terhal P; Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands., Irving M; Department of Clinical Genetics, Guy's Hospital, London, UK., Takaku M; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Roberts JD; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Petrovich RM; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Vergano SAS; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA., Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Hove H; Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., DeChene E; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Quinonez SC; Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA., Colin E; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France., Ziegler A; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France., Rumple M; Banner Child Neurology, Glendale, AZ, USA., Jain M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA., Monteil D; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA., Roeder ER; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., Nugent K; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Gambello M; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krock B; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France., Ghoumid J; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France., Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Wright M; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK., Turnpenny P; University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK., Clayton-Smith J; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK., Metcalfe K; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK., Kurumizaka H; Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan., Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Feldman HB; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Campeau PM; Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wade PA; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 669.
Autor:
Weiss K; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. k_weiss@rambam.health.gov.il., Lazar HP; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Cohen L; Genetics Institute, Schneider Children's Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Whalen S; UF de génétique clinique, Centre de Référence Maladies Rares des Anomalies du développement et syndromes malformatifs, APHP, Hôpital Trousseau, Paris, France., Heide S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France., Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France., Terhal P; Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands., Irving M; Department of Clinical Genetics, Guy's Hospital, London, UK., Takaku M; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Roberts JD; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Petrovich RM; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA., Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Hove H; Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., DeChene E; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Quinonez SC; Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA., Colin E; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France., Ziegler A; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France., Rumple M; Banner Child Neurology, Glendale, AZ, USA., Jain M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA., Monteil D; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA., Roeder ER; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., Nugent K; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Gambello M; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krock B; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France., Ghoumid J; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France., Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Wright M; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK., Turnpenny P; University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK., Clayton-Smith J; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK., Metcalfe K; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK., Kurumizaka H; Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan., Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Baris Feldman H; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Campeau PM; Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wade PA; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Feb; Vol. 22 (2), pp. 389-397. Date of Electronic Publication: 2019 Aug 07.