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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Truong BT; Human Medical Genetics & Genomics Graduate Program, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA.; Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA., Shull LC; Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA., Lencer E; Biology Department, Lafayette College, Easton, PA 18042, USA., Bend EG; Greenwood Genetics Center, Greenwood, SC 29646, USA., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, AUS., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Bamshad MJ; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Skinner C; Greenwood Genetics Center, Greenwood, SC 29646, USA., Everman D; Greenwood Genetics Center, Greenwood, SC 29646, USA., Schwartz CE; Greenwood Genetics Center, Greenwood, SC 29646, USA., Flanagan-Steet H; Greenwood Genetics Center, Greenwood, SC 29646, USA., Artinger KB; Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2023 Apr 01; Vol. 16 (4). Date of Electronic Publication: 2023 Apr 21.
Autor:
Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Pranckeviciene E; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada., Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy., Biamino E; Department of Pediatrics, University of Turin, Turin, Italy., Palomares Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Clarke A; Cardiff University School of Medicine, Cardiff, UK., DuPont BR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Elting MW; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Faivre L; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA., Ferilli M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Fletcher RS; Greenwood Genetic Center, Greenwood, South Carolina, USA., Cherick F; Genetic Medical Center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Hilton BA; Greenwood Genetic Center, Greenwood, South Carolina, USA., Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia., Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada., Santen GWE; Department of Clinical Genetics, LUMC, Leiden, The Netherlands., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy., John MS; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, Dijon, France., Traficante G; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy., van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, The Netherlands., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA., Vos N; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Walden KK; Greenwood Genetic Center, Greenwood, South Carolina, USA., Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia., Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada., Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom., Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, Australia.; South Australian Health and Medical Research Institute, Adelaide, Australia., Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, USA., Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada., Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia., Bend EG; PreventionGenetics, Marshfield, Wisconsin, USA., Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada., Campion D; INSERM U1245, Faculté de Médecine, Rouen, France., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Esber N; KAT6A Foundation, New York, New York, USA., Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA., Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA., Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France., Heron D; AP-HP, Département de Génétique Médicale, Groupe Hospitalier Pitié Salpétrière, Paris, France., Husson T; Department of Genetics and Reference Center for Developmental Disorders, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada., McNeill A; Department of Neuroscience, University of Sheffield, UK, and Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, Manitoba, Canada., Schwartz C; Greenwood Genetic Center, Greenwood, South Carolina, USA., Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA., Vincent M; Service de génétique Médicale, CHU Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.
Publikováno v:
Human mutation [Hum Mutat] 2022 Nov; Vol. 43 (11), pp. 1609-1628. Date of Electronic Publication: 2022 Aug 21.
Autor:
Levy MA; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children's Hospital of Florence, Florence, Italy., Biamino E; Department of Pediatrics, University of Turin, Turin, Italy., Bralo MP; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Clarke A; Cardiff University School of Medicine, Cardiff, UK., DuPont BR; Greenwood Genetic Center, Greenwood, SC 29646, USA., Elting MW; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Faivre L; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Fee T; Greenwood Genetic Center, Greenwood, SC 29646, USA., Fletcher RS; Greenwood Genetic Center, Greenwood, SC 29646, USA., Cherik F; Genetic medical center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, Inserm Unit 1183, CHU Montpellier, Montpellier, France., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Friez MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Hilton BA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, Canada., Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France., Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Relator R; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada., Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Rooney K; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Santen GWE; Department of Clinical Genetics, LUMC, Leiden, the Netherlands., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy., St John M; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, 21000 Dijon, France., Traficante G; Medical Genetics Unit, 'A. Meyer' Children's Hospital of Florence, Florence, Italy., van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, the Netherlands., 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., Vos N; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, the Netherlands., Walden KK; Greenwood Genetic Center, Greenwood, SC 29646, USA., Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia., Balci T; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5W9, Canada., Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, SA 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia., Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Lee JA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A 3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5W9, Canada., Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia., Bend EG; PreventionGenetics, Marshfield, WI, USA., Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia., Dyment D; Children's Hospital of Eastern Ontario, Ottawa, Canada., Esber N; KAT6A Foundation., Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, MD 21205, USA., Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, MA, USA., Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, Inserm Unit 1183, CHU Montpellier, Montpellier, France., Kerrnohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada., McNeill A; Department of Neuroscience, University of Sheffield, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy., Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, MB, Canada., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement », FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands., Tedder ML; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sadikovic B; Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Publikováno v:
HGG advances [HGG Adv] 2021 Dec 03; Vol. 3 (1), pp. 100075. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).
Autor:
Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Vegas N; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Cho MT; GeneDx, Gaithersburg, MD, USA., Viot G; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Dimartino C; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Weisfeld-Adams JD; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Li C; McMaster University Medical Center, Hamilton, Ontario, Canada., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Troyer C; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Radiology, University of Washington, Seattle, WA, USA., Leung G; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Barone Pritchard A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Yang S; GeneDx, Gaithersburg, MD, USA., Bend EG; Greenwood Genetic Center, Greenwood, SC, USA.; PreventionGenetics, Marshfield, WI, USA., Filippini F; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Roadhouse C; McMaster University Medical Center, Hamilton, Ontario, Canada., Lebrun N; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France., Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA, USA., Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Apple B; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Puk O; Praxis für Humangenetik Tübingen, Tübingen, Germany., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Henderson LB; GeneDx, Gaithersburg, MD, USA., McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Pei S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Yu M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Seman A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Steeves M; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Luettgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Francisco E; eviCore healthcare, Bluffton, SC, USA., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Amlie-Wolf L; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Kaindl AM; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Wilson WG; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel., Lev-El N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Vissers LELM; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands., Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Reid RR; Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA., Devriendt K; Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Powis Z; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Bienvenu T; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia., Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Gripp KW; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Viskochil D; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA., Hoffman TL; Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Amiel J; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Publikováno v:
Brain : a journal of neurology [Brain] 2020 Jan 01; Vol. 143 (1), pp. 55-68.
Autor:
Bend EG; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA.; PreventionGenetics, Marshfield, WI, USA., Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.; Molecular Genetics Laboratory, Victoria Hospital, London Health Sciences Centre, London, ON, Canada., Everman DB; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Rogers RC; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Cathey SS; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Prijoles EJ; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Lyons MJ; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Davis H; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Clarkson K; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Gripp KW; Al DuPont Hospital for Children, Wilmington, DE, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bhoj E; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mark P; Spectrum Health, Grand Rapids, MI, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Demmer LA; Levine Children's Hospital, Carolinas Medical Center, Charlotte, NC, USA., Levy MA; Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.; Molecular Genetics Laboratory, Victoria Hospital, London Health Sciences Centre, London, ON, Canada., Kerkhof J; Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.; Molecular Genetics Laboratory, Victoria Hospital, London Health Sciences Centre, London, ON, Canada., Stuart A; Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.; Molecular Genetics Laboratory, Victoria Hospital, London Health Sciences Centre, London, ON, Canada., Rodenhiser D; Department of Pediatrics, Biochemistry and Oncology, Western University, London, ON, Canada., Friez MJ; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Stevenson RE; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA., Schwartz CE; Greenwood Genetic Center, 106 Gregor Mendel Cir, Greenwood, SC, 29646, USA. ceschwartz@ggc.org., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada. bekim.sadikovic@lhsc.on.ca.; Molecular Genetics Laboratory, Victoria Hospital, London Health Sciences Centre, London, ON, Canada. bekim.sadikovic@lhsc.on.ca.
Publikováno v:
Clinical epigenetics [Clin Epigenetics] 2019 Apr 27; Vol. 11 (1), pp. 64. Date of Electronic Publication: 2019 Apr 27.
Autor:
Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada., Bend EG; Greenwood Genetic Center, Greenwood, SC 29646, USA., Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada., Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada., Chakrabarti R; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada., Napier M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada., Brick L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada., Brady L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada., Carere DA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada., Levy MA; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada., Stuart A; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada., Saleh M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada., Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Li C; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada., Kozenko M; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada., Karp N; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada., Prasad C; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada., Siu VM; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A 5W9, Canada., Tarnopolsky MA; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada., Ainsworth PJ; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada., Lin H; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada., Rodenhiser DI; Department of Pediatrics, Biochemistry and Oncology, Western University, London, ON N6A 3K7, Canada., Krantz ID; The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA., Deardorff MA; The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA., Schwartz CE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 685-700. Date of Electronic Publication: 2019 Mar 28.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2019 Apr; Vol. 28 (2), pp. 71-73.
Autor:
Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Bend EG; Prevention Genetics, Marshfield, 54449, WI, USA., Hood RL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., Schenkel LC; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Carere DA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Chakrabarti R; Children's Health Research Institute, London, N6A 5W9, ON, Canada., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, TX, USA., Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, TX, USA., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, H3C 3J7, QC, Canada., Prasad C; Children's Health Research Institute, London, N6A 5W9, ON, Canada., Siu VM; Children's Health Research Institute, London, N6A 5W9, ON, Canada., Brady L; Department of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada., Tarnopolsky MA; Department of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada., Callen DJ; Department of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada., Innes AM; Department of Medical Genetics, Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, T3B 6A8, AB, Canada., White SM; Department of Paediatrics, University of Melbourne, Melbourne, 3052, VIC, Australia., Meschino WS; Genetics Program, North York General Hospital, Toronto, M2K 1E1, ON, Canada., Shuen AY; Children's Health Research Institute, London, N6A 5W9, ON, Canada., Paré G; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, L8P 1A2, ON, Canada., Bulman DE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., Ainsworth PJ; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Lin H; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Rodenhiser DI; Children's Health Research Institute, London, N6A 5W9, ON, Canada.; Department of Pediatrics, Biochemistry and Oncology, Western University, London, N6A 5W9, ON, Canada., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1012 WX, The Netherlands., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., Schwartz CE; Greenwood Genetic Center, Greenwood, 29646, SC, USA., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada. Bekim.Sadikovic@lhsc.on.ca.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada. Bekim.Sadikovic@lhsc.on.ca.
Publikováno v:
Nature communications [Nat Commun] 2018 Nov 20; Vol. 9 (1), pp. 4885. Date of Electronic Publication: 2018 Nov 20.