Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Wentzensen, IM"'
Autor:
Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::2c2864a4951208740eb522d6f50b63e1
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf
Autor:
Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark., Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy., Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA., De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy., Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia., Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA., Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France., Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA., Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium., Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 574-584. Date of Electronic Publication: 2024 Jul 11.
Autor:
Peron A; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. angela.peron@unifi.it.; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milano, Italy. angela.peron@unifi.it.; Department of Experimental and Clinical Biomedical Sciences, Università degli Studi di Firenze, Firenze, Italy. angela.peron@unifi.it.; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy. angela.peron@unifi.it., D'Arco F; Department of Radiology, Great Ormond Street Hospital for Children, London, UK., Aldinger KA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Smith-Hicks C; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gradek GA; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Bradbury K; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Wessex Regional Genetics Service, Princess Anne Hospital, Southampton, UK., Accogli A; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Andersen EF; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Au PYB; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Battini R; IRCCS Fondazione Stella Maris, Pisa, Italy.; Dipartimento di Medicina Clinica e Sperimentale, University of Pisa, Pisa, Italy., Beleford D; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Department of Pediatrics and Physiology & Membrane Biology, University of California, Davis, CA, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bruel AL; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Carlston C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Carmichael J; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Clayton-Smith J; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Bamshad MJ; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA., Earl DL; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA., Faivre L; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Ferreira P; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Graul-Neumann L; Universitätsmedizin Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Green MJ; Experimental Histopathology Laboratory, The Francis Crick Institute, London, UK., Haffner D; Department of Pediatrics, Division of Pediatric Neurology, Nationwide Children's Hospital and Ohio State University, Columbus, OH, USA., Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Hanna S; Department of Pediatric Immunology, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK., Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Kristiansen BE; Department of Neurohabilitation, Oslo University Hospital, Oslo, Norway., Lespinasse J; HDR - Service de Génétique Médicale, Centre Hospitalier Métropole Savoie, Chambery, France., Low KJ; Clinical Genetics Service, University Hospitals Bristol and Weston NHS trust, Bristol, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Maia S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar Universidade de Coimbra, Coimbra, Portugal., Mao R; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Kalinauskiene R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Montgomery T; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NHS Foundation Trust, Newcastle, UK., Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, Napoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Napoli, Italy., Motter C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA., Openshaw AS; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA., Palumbos JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Parikh AS; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA., Powell CM; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA., Person R; GeneDx, Gaithersburg, MD, USA., Desai M; GeneDx, Gaithersburg, MD, USA., Piard J; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Scala M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Serey-Gaut M; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.; Centre de Recherche en Audiologie, Hôpital Necker, AP-HP. CUP, Paris, France., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Division of Human Genetics, Cincinnati Children's Hospital, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Suri M; Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust, Nottingham, UK., Turner C; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA., Weiss K; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Zollino M; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Roma, Italy.; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Guillemot F; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Viskochil D; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK. cristina.dias@kcl.ac.uk.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK. cristina.dias@kcl.ac.uk.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK. cristina.dias@kcl.ac.uk.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, London, UK. cristina.dias@kcl.ac.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct 24. Date of Electronic Publication: 2024 Oct 24.
Autor:
Chettle J; Department of Oncology, University of Oxford, Oxford, UK., Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA. Electronic address: rlouie@ggc.org., Larner O; University of South Carolina School of Medicine Greenville, Greenville, SC, USA., Best R; University of South Carolina School of Medicine Greenville, Greenville, SC, USA., Chen K; Yale University, New Haven, CT, USA., Morris J; Department of Oncology, University of Oxford, Oxford, UK., Dedeic Z; Department of Oncology, University of Oxford, Oxford, UK., Childers A; Greenwood Genetic Center, Greenwood, SC, USA., Rogers RC; Greenwood Genetic Center, Greenwood, SC, USA., DuPont BR; Greenwood Genetic Center, Greenwood, SC, USA., Skinner C; Greenwood Genetic Center, Greenwood, SC, USA., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, 44000 Nantes, France., Uguen K; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France., Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France., Monteil D; Naval Medical Center Portsmouth, Portsmouth, VA, USA., Li M; Invitae, San Francisco Corp., San Francisco, CA, USA., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel., Mor N; The Genomic Unit, Sheba Cancer Research Centre, Sheba Medical Center, Tel Hashomer, Israel., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, 44000 Nantes, France., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, 44000 Nantes, France., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, 44000 Nantes, France., Blesson A; Kennedy Krieger Institute, Baltimore, MD, USA., Comi A; Kennedy Krieger Institute, Baltimore, MD, USA., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Vuocolo B; Baylor College of Medicine, Houston, TX, USA., Lalani SR; Baylor College of Medicine, Houston, TX, USA., Sierra R; Baylor College of Medicine, Houston, TX, USA., Berry L; Baylor College of Medicine, Houston, TX, USA., Carter K; University of Texas Rio Grande Valley, Edinburg, TX, USA., Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Blagden SP; Department of Oncology, University of Oxford, Oxford, UK. Electronic address: sarah.blagden@oncology.ox.ac.uk.
Publikováno v:
HGG advances [HGG Adv] 2024 Oct 10; Vol. 5 (4), pp. 100345. Date of Electronic Publication: 2024 Aug 30.
Autor:
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14.
Autor:
Szot JO; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Cuny H; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia., Martin EM; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Sheng DZ; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Iyer K; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Portelli S; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Nguyen V; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Gereis JM; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Alankarage D; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and.; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Chong K; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA., Vincent-Delormé C; Clinique de Génétique 'Guy Fontaine,' Hôpital Jeanne de Flandre, Lille, France., Lermine A; Laboratoire de Biologie Médicale Multisites SeqOIA, FMG2025, Paris, France., Burkitt-Wright E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom., Ji W; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., Jeffries L; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., Pais LS; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia., Pitt J; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Metabolic Laboratory, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Wise CA; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Nedlands, Perth, Western Australia, Australia., Wright H; General Paediatric Department, Perth Children's Hospital, Perth, Western Australia, Australia.; Rural Clinical School, University of Western Australia, Perth, Western Australia, Australia., Andrews ID; Pinnacle Dermatology, Scottsdale, Arizona, USA., Pruniski B; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Grebe TA; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Corsten-Janssen N; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands., Bouman K; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia., Prakash S; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Keren B; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Sorbonne Université, Paris, France., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia., Lakhani SA; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., McDermott JH; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, United Kingdom., Ascher DB; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Chapman G; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia., Bozon K; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Faculty of Science, University of New South Wales, Sydney, New South Wales, Australia.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Feb 15; Vol. 134 (4). Date of Electronic Publication: 2024 Feb 15.
Autor:
Rigter PMF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., de Konink C; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Dunn MJ; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA., Proietti Onori M; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Humberson JB; Pediatric Specialty Care, University of Virginia Health, Charlottesville, VA 22903, USA., Thomas M; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA., Barnes C; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA., Prada CE; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Fundacion Cardiovascular de Colombia, Bucaramanga, Colombia., Weaver KN; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Ryan TD; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Stollery Children's Hospital, Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2B7, Canada., Conway J; Stollery Children's Hospital, Department of Pediatrics, Division of Pediatric Cardiology, University of Alberta, Edmonton, AB T6G 2B7, Canada., Calamaro E; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Fong CT; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Wuyts W; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium., Meuwissen M; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium., Hordijk E; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Jonkers CN; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Anderson L; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Yuseinova B; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Polonia S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Beysen D; Department of Paediatric Neurology, University Hospital of Antwerp, 2650 Edegem, Belgium; Department of Translational Neurosciences, University of Antwerp, 2650 Edegem, Belgium., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics, Melbourne, VIC 3052, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia., McKenzie F; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6009, Australia., Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bupp CP; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Blevins A; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany., Veenma DCM; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Sophia Children's Hospital, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands., Schulman H; Department of Neurobiology, Stanford University, School of Medicine, Stanford, CA 94305, USA; Panorama Research Institute, Sunnyvale, CA 94089, USA., Stratton MM; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA., Küry S; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands. Electronic address: g.vanwoerden@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Feb 01; Vol. 111 (2), pp. 364-382. Date of Electronic Publication: 2024 Jan 24.
Autor:
Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA., Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, 72076, Germany., Lau T; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Aldeen HS; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK., Rocca C; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Saad AK; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA., Bartolomaeus T; 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., Zifarelli G; Centogene GmbH, Rostock, Germany., Gotkhindikar A; Bioinformatics Centre, S. P. Pune University, Pune, India., Wentzensen IM; GeneDx, Gaithersburg, MD, 20877, USA., Liao M; GeneDx, Gaithersburg, MD, 20877, USA., Cork EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Varshney P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran., Rad A; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, 72076, Germany., Neira J; Department of Human Genetics, Emory University, Atlanta, GA, 30322, USA., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Knopp C; Institute for Human Genetics and Genomic Medicine, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany., Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Smith R; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Abdalla A; Department of Pediatric Endocrinology, Gaafar Ibn Auf Children's Tertiary Hospital, Khartoum, Sudan., Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Joshi M; Bioinformatics Centre, S. P. Pune University, Pune, India., Chung WK; Department of Pediatrics, Boston Children's Hospitaland, Harvard Medical School , Boston, MA, USA., Moreno-De-Luca A; Department of Diagnostic Radiology, Kingston Health Sciences Centre, Queen's University, Kingston, ON, Canada., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK. r.maroofian@ucl.ac.uk., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA. gaurav-varshney@omrf.org.
Publikováno v:
Genome medicine [Genome Med] 2023 Nov 29; Vol. 15 (1), pp. 102. Date of Electronic Publication: 2023 Nov 29.
Autor:
Ahmad N; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Fazeli W; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany., Schließke S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Lesca G; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France., Gokce-Samar Z; Department of Epileptology, Lyon University Hospital, Lyon, France., Mekbib KY; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri., Burton J; University of Illinois College of Medicine, Peoria, Illinois., Hoganson G; University of Illinois College of Medicine, Peoria, Illinois., Petersen A; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Gracie S; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Bartels E; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kundishora A; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Till M; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France., Milleret-Pignot C; Department of Epileptology, Lyon University Hospital, Lyon, France., Dangerfield S; University of Utah, Salt Lake City, Utah., Viskochil D; University of Utah, Salt Lake City, Utah., Anderson KJ; University of Utah, Salt Lake City, Utah; Department of Pediatrics, University of Vermont Medical Center, Burlington, Vermont., Palculict TB; GeneDx, Gaithersburg, Maryland., Schnur RE; GeneDx, Gaithersburg, Maryland., Wentzensen IM; GeneDx, Gaithersburg, Maryland., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, California., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Kunz WS; Department of Epileptology, University Hospital Bonn, Bonn, Germany., Burkart S; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Simons M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: sonja.neuser@medizin.uni-leipzig.de.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2023 Nov; Vol. 148, pp. 164-171. Date of Electronic Publication: 2023 Aug 24.
Autor:
Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Lau T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Sultan T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Sedighzadeh S; Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; KaryoGen, Isfahan, Iran., Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., AlShamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE., Ibrahim S; Department of pediatrics and child Health, Aga Khan University, Karachi, Pakistan., Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia., Al-Hertani W; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA., Sandra W; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France., Tarnopolsky M; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada., Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Li C; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada., Day-Salvatore DL; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA., Martínez-González MJ; Pediatric Neurology Unit, Cruces University Hospital, Barakaldo, Vizcaya, Spain., Levandoski KM; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA., Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Madan-Khetarpal S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Idleburg MJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Menezes MJ; Department of Anaesthesia, the Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia., Siddharth A; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Collins F; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia., Lek M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA., Shahrooei M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Ghavideldarestani M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neuroscience, Boys Town National Research Hospital, Boys Town, NE, USA., Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Faure J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Baker J; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA., Bhambhani V; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA., Calderwood L; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA., Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Mirzadeh HS; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Innovative medical research centre, Mashhad branch, Islamic Azad University, Mashhad, Iran., Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Abedini S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Salpietro V; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Gulec EY; Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey., Eshaghian S; Isfahan Fertility and Infertility Center, Isfahan, Iran., Ghazavi M; Department of Pediatric Neurology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran., Pascher MT; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany., Vogel M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Deutsches Krebsforschungszentrum, Heidelberg, Germany., Abicht A; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Medizinisch Genetisches Zentrum, Munich, German., Moutton S; Multidisciplinary Center for Prenatal Diagnosis, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), INSERM UMR1231, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, Dijon, France., Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland., Gallati S; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland., Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada., Mohammadi MH; Department of pediatrics, Zabol University of medical sciences, Zabol, Iran., Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Berger SI; Children's National Research Institute, Washington DC, USA., Andrew EH; Children's National Research Institute, Washington DC, USA., Rahimian E; Haghighat Medical Imaging center-Tehran, Tehran, Iran., Morrow MM; GeneDx, Gaithersburg, MD, USA., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK., Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK., Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA., McRae A; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Peter M; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Ashrafzadeh F; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, Paris, France., Benezit A; Neurologie et réanimation pédiatrique, Hôpital Raymond Poincaré, APHP, Garches, France., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Weis D; Department of Medical Genetics, Kepler University Hospital, Johann Kepler University, Linz, Austria., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany., Christodoulou J; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics and Medicine, Columbia University New York, NY, USA., Goodchild R; KU Leuven Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Laboratory for Dystonia Research, Leuven, Belgium., Offiah AC; Department of Oncology & Metabolism, University of Sheffield, UK., Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Geisinger, Danville, PA, USA., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA., Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Aug 01; Vol. 146 (8), pp. 3273-3288.