부산대학교 도서관

Li, Jianqiao; Hojlo, Margaret A; Chennuri, Sampath; Gujral, Nitin; Paterson, Heather L; Shefchek, Kent A; Genetti, Casie A; Cohn, Emily L; Sewalk, Kara C; Garvey, Emily A; Buttermore, Elizabeth D; Anderson, Nickesha C; Beggs, Alan H; Agrawal, Pankaj B; Brownstein, John S; Haendel, Melissa A; Holm, Ingrid A; Gonzalez-Heydrich, Joseph; Brownstein, Catherine A

Journal of Medical Internet Research, Vol 23, Iss 3, p e21023 (2021)

Ross, Justyne E; Flowers, May; McNulty, Shannon; Patel, Mayher; Yang, Hui; Palus, Brooke; Abdelmoneim Elnagheeb, Marwa; Eng, Lucy; Owens, Emma; Beggs, Alan H; Bertini, Enrico; D'Amico, Adele; Donkervoort, Sandra; Dowling, James; Fattori, Fabiana; Ferreiro, Ana; Genetti, Casie A; Gonorazky, Hernan; Lek, Monkol; Lindy, Amanda

Journal of Neuromuscular Diseases; Nov2025, Vol. 12 Issue 6, p778-792, 15p

Oirsouw, Amber S E van; Hadders, Michael A; Koetsier, Martijn; Peters, Edith D J; Batzir, Nurit Assia; Barakat, Tahsin Stefan; Baralle, Diana; Beil, Adelyn; Bonnet-Dupeyron, Marie-Noëlle; Boone, Philip M; Bouman, Arjan; Carere, Deanna Alexis; Cogne, Benjamin; Dunnington, Leslie; Farach, Laura S; Genetti, Casie A; Isidor, Bertrand; Januel, Louis; Joshi, Aakash; Lahiri, Nayana

Human Molecular Genetics; 8/15/2025, Vol. 34 Issue 16, p1353-1367, 15p

Di Feo MF; Folkhälsan Research Center, Helsinki, Finland. mariafrancesca.difeo@helsinki.fi.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland. mariafrancesca.difeo@helsinki.fi.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. mariafrancesca.difeo@helsinki.fi.; Rees M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Lillback V; Folkhälsan Research Center, Helsinki, Finland.; Kho AL; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Meybatova A; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Holt M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Jungbluth H; Children's Neuroscience Centre, Evelina London Children's Hospital, Guy's and St, Thomas' Hospital NHS Foundation Trust, London, UK.; Muntoni F; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Baranello G; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Sarkozy A; The Dubowitz Neuromuscular Unit, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Fiorillo C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Baratto S; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Bruno C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Traverso M; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Iacomino M; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Pedemonte M; Pediatric Neurology and Muscle Diseases Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Brolatti N; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Faravelli F; Clinical Genetics and Genomics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Giannina Gaslini Hospital, Genoa, Italy.; Mandarà GML; Maria Paternò Arezzo Hospital, Ragusa, Italy.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Barraza-Flores P; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rodolico C; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Schnabel F; University of Leipzig Medical Center, Leipzig, Germany.; Balogh I; Faculty of Medicine, Department of Medical Genetics, University of Debrecen, Debrecen, Hungary.; Szakszon K; Faculty of Medicine, Institute of Paediatrics, University of Debrecen, Debrecen, Hungary.; Sarv S; Genetic and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Õunap K; Genetic and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Ricci FS; Department of Public Health and Pediatrics, University of Turin, Regina Margherita Children's Hospital, Turin, Italy.; Mussa A; Department of Public Health and Pediatrics, University of Turin, Regina Margherita Children's Hospital, Turin, Italy.; Malfatti E; Université Paris Est Créteil, Inserm U955, IMRB, Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Créteil, France.; Bertini ES; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; D'Amico A; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Diodato D; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Catteruccia M; Research Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, Australia.; Johari M; Harry Perkins Institute of Medical Research, Nedlands, Australia.; Kurbatov SA; Voronezh State Medical University, Voronezh, Russian Federation.; Chausova P; Research Centre for Medical Genetics, Moscow, Russia.; Murtazina A; Research Centre for Medical Genetics, Moscow, Russia.; Kuchina A; Research Centre for Medical Genetics, Moscow, Russia.; Shchagina O; Research Centre for Medical Genetics, Moscow, Russia.; Drakos M; Neurology/Neurogenetics Laboratory, Medical School, University of Crete, Rethymno, Greece.; Spilioti M; 1 st Neurology Department, AHEPA University Hospital, Thessaloniki, Greece.; Evangeliou AE; Division of Child Neurology, St. Luke's Hospital, Thessaloniki, Greece.; Zaganas I; Neurology Department, Medical School, University of Crete, Heraklion, Crete, Greece.; University Hospital of Heraklion, Heraklion, Crete, Greece.; Zhong H; Huashan Rare Disease Centre and Department of Neurology, Huashan Hospital, Shanghai Medical College, National Centre for Neurological Disorders, Fudan University, Shanghai, 200040, China.; Luo S; Huashan Rare Disease Centre and Department of Neurology, Huashan Hospital, Shanghai Medical College, National Centre for Neurological Disorders, Fudan University, Shanghai, 200040, China.; Merlini L; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136, Bologna, Italy.; Nguyen CT; CHU Sainte-Justine, Montreal, QC, Canada.; Tasca G; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 3BZ, UK.; Reeves T; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 3BZ, UK.; Mörner S; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.; Danielsson O; Division of Neurology, Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland.; Gautel M; Randall Centre for Cell & Molecular Biophysics, School of Basic & Medical Biosciences, King's College London, London, SE1 1UL, UK.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, 394036, Russian Federation.; Ampleeva M; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.; Zakharova EY; Research Centre for Medical Genetics, Moscow, 115522, Russia.; Chekmareva IA; Federal State Budgetary Institution 'National Medical Research Center of Surgery named after A. Vishnevsky', Ministry of Health of the Russian Federation, Moscow, 117997, Russia.; Shirokova KS; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, 394036, Russian Federation.; Atiakshin D; RUDN University, Moscow, 117198, Russian Federation.; van Beek R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, 6525, The Netherlands.; Medici E; Department of Neurology, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Nemoto J; Department of Neurology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, 755-8505, Japan.; Komaki H; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Okabe T; Okabe Children's Clinic, Toyama, 939-8211, Japan.; Kimoto Y; Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, 889-1692, Japan.; Tokito T; Tokito Clinic Rheumatology and Orthopedic Surgery, Shimonoseki, Yamaguchi, 752-0976, Japan.; Nakanowatari M; Department of Neurology, Ushioda General Hospital, Yokohama, Kanagawa, 230-0001, Japan.; Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Estrella EA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Kunkel LM; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Osei-Owusu I; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Donnell-Luria A; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Mangilog B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Genetti CA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Valivullah ZM; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; D'Amico A; Neuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Sole G; Neurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, 33000, France.; Martin-Négrier ML; Pathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, 33076, France.; Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Milic Rasic V; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kovacevic G; Mother and Child Health Care Institute, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kosac A; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Gontijo Camelo C; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Habib C; Clinical Genetics, Austin Health, Melbourne, VIC, 3084, Australia.; Fahey MC; Department of Paediatrics Monash University, Melbourne, VIC, 3168, Australia.; Beggs AH; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Poulsen NS; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Savarese M; Folkhälsan Research Center, Helsinki, 00290, Finland.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, 6525, The Netherlands.; Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Udd B; Folkhälsan Research Center, Helsinki, 00290, Finland.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Del Rosario MC; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Center for Cardiovascular Genetics, Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.; Walmsley SA; Department of Medicine, Mass General Brigham, Boston, MA, USA.; Ariadne Labs, Boston, MA, USA.; Harrison BW; Department of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.; Stephens CT; Department of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Zettler B; Department of Medicine, Mass General Brigham, Boston, MA, USA.; Ariadne Labs, Boston, MA, USA.; Rivera-Cruz G; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA.; Agrawal P; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Brower A; Creighton University School of Medicine, Omaha, NE, USA.; Chigbu S; Department of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.; Christensen KD; PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA.; Department of Population Medicine, Harvard Medical School, Boston, MA, USA.; Genetti CA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Givens R; Department of Surgery, Mount Sinai Hospital, New York, NY, USA.; Gold NB; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Reeves IV; Department of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.; Schichter I; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Shariat H; Department of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.; Simon S; Department of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.; Smith HS; PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA.; Department of Population Medicine, Harvard Medical School, Boston, MA, USA.; Uveges M; Boston College, Connell School of Nursing, Chestnut Hill, MA, USA.; Green RC; Department of Medicine, Mass General Brigham, Boston, MA, USA.; Ariadne Labs, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.; Holm IA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Pereira S; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA. spereira@bcm.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Luo S; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; McGivern B; GeneDx LLC, Gaithersburg, MD, USA.; Li Q; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Kottmeier J; Division of Medical Genetics, Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, 65212, USA.; Ho ML; Division of Neuroradiology, University of Missouri, Columbia, MO, 65212, USA.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Aref-Eshghi E; GeneDx LLC, Gaithersburg, MD, USA.; Brodeur AC; Division of Medical Genetics, Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, 65212, USA.; Schmitz-Abe K; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Genetti CA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Department of Child and Adolescent Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Shi J; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Bux RI; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.; Ben-Omran T; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, Qatar.; Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; de Angelis MH; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. martin.hrabedeangelis@helmholtz-munich.de.; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany. martin.hrabedeangelis@helmholtz-munich.de.; German Center for Diabetes Research (DZD), Neuherberg, Germany. martin.hrabedeangelis@helmholtz-munich.de.; Agrawal PB; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA. pagrawal@miami.edu.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. pagrawal@miami.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. pagrawal@miami.edu.

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

Möller B; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Becker LL; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Institute for Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Saffari A; Heidelberg University, Medical Faculty Heidelberg, University Hospital Heidelberg, Center for Pediatrics and Adolescent Medicine, Department of Pediatrics I, Division of Child Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.; Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Intellectual Disabilities of Rare Causes, Department of Genetics and Medical Embryology, Sorbonne University, Trousseau Hospital Paris, 75012 Paris, France.; Coci EG; Department of Paediatrics, Otto-von-Guericke-University Magdeburg, 39120 Magdeburg, Germany.; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Williamson R; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA.; Ward-Melver C; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA.; Gibaud M; Service de pédiatrie, CHU de Nantes, 44000 Nantes, France.; Sedláčková L; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Laššuthová P; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Libá Z; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Vlčková M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; William N; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55901, USA.; Klee EW; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Gavrilova RH; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France.; Capri Y; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France.; Scavina M; Division of Neurology, Nemours Children's Health, Wilmington, Delaware 19803, USA.; Körner RW; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; Weiß C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Möller GM; Berlin University of Applied Sciences and Technology, 10587 Berlin, Germany.; Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Roberts A; Center for Cardiovascular Genetics, Boston Children's Hospital, Boston, MA 02115, USA.; Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Barakaldo 48903, Spain.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Thiel M; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Kamsteeg EJ; Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.; Duboc V; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.; Zaafrane-Khachnaoui K; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Trust, Cambridge CB2 3EH, UK.; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt.; Selim L; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt.; Margot H; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Marin V; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Beneteau C; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Isidor B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France.; Cogne B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, 75013 Paris, France.; Küsters B; Department of Pathology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Beggs AH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.; Sveden A; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.; Nicolai J; Department of Neurology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Dötsch J; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Koy A; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.; von der Hagen M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307  Dresden, Germany.; von Kleist-Retzow JC; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 Nijmegen, The Netherlands.; Jungbluth H; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Dafsari HS; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Wojcik MH; Boston Children's Hospital, Boston.; Larkin K; Broad Clinical Labs, Burlington, MA.; Cipicchio M; Broad Clinical Labs, Burlington, MA.; Doupnik A; Roche Sequencing Solutions, Seattle.; Zhao C; Roche Sequencing Solutions, Seattle.; Cech C; Roche Sequencing Solutions, Seattle.; Lopez D; Roche Sequencing Solutions, Seattle.; Chandrasekar J; Roche Sequencing Solutions, Seattle.; Leadbetter J; Roche Sequencing Solutions, Seattle.; Mannion J; Roche Sequencing Solutions, Seattle.; Berg K; Roche Sequencing Solutions, Seattle.; Golkaram M; Roche Sequencing Solutions, Seattle.; Osentowski M; Roche Sequencing Solutions, Seattle.; Freer M; Roche Sequencing Solutions, Seattle.; Lehmann T; Roche Sequencing Solutions, Seattle.; Lee WM; Roche Sequencing Solutions, Seattle.; Ormbrek E; Roche Sequencing Solutions, Seattle.; Prindle MJ; Roche Sequencing Solutions, Seattle.; Nabavi M; Roche Sequencing Solutions, Seattle.; Chaturvedi A; Roche Sequencing Solutions, Seattle.; Seberino C; Roche Sequencing Solutions, Seattle.; Baker DN; Roche Sequencing Solutions, Seattle.; Williams C; Roche Sequencing Solutions, Seattle.; Toledo D; Broad Clinical Labs, Burlington, MA.; Malolepsza E; Broad Clinical Labs, Burlington, MA.; Fleharty M; Broad Clinical Labs, Burlington, MA.; Oza A; Broad Clinical Labs, Burlington, MA.; Low S; Broad Clinical Labs, Burlington, MA.; Beggs AH; Boston Children's Hospital, Boston.; Genetti CA; Boston Children's Hospital, Boston.; Strickland G; Boston Children's Hospital, Boston.; Anderson KN; Boston Children's Hospital, Boston.; Chung WK; Boston Children's Hospital, Boston.; Rehm HL; Broad Clinical Labs, Burlington, MA.; Hofherr S; Broad Clinical Labs, Burlington, MA.; Kokoris M; Roche Sequencing Solutions, Seattle.; Lennon N; Broad Clinical Labs, Burlington, MA.

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE; In Process

Cheng YH; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Sedeño-Cortés AE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Ranchalis JE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Balton E; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Wojcik MH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bamshad MJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Wei CL; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; The Northwest Genomics Center, University of Washington, Seattle, WA, USA.; Dipple KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Seattle Children's Research Institute, Center for Clinical and Translational Research, Seattle, WA, USA.; Kumar RD; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, WA, USA.; Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA.; Jarvik G; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Witten DM; Departments of Statistics & Biostatistics, University of Washington, Seattle, WA, USA.; O'Donnell-Luria A; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stergachis AB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

D'Gama AM; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.; Douglas J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA.; Hills S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA.; Wojcik MH; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Genetti CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Verran AS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA.; Parker MG; Department of Pediatrics, UMass Chan School of Medicine, Worcester, MA.; Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: Timothy.Yu@childrens.harvard.edu.; Agrawal PB; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL. Electronic address: pagrawal@miami.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein, Ulrike; Haack, Tobias B; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Genomics England Research Consortium; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B

Genomics England Research Consortium 2023, 'Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy', American Journal of Human Genetics, vol. 110, no. 1, pp. 120-145. https://doi.org/10.1016/j.ajhg.2022.11.011

Borroto MC; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.; Michaud C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.; Hudon C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.; Agrawal PB; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Applegate CD; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Bjornsson HT; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.; Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA.; Devinsky O; Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA.; Dudding-Byth T; Hunter Genetics, Newcastle, NSW 2298, Australia.; Fagan K; UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA.; Finnila CR; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.; Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA.; Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.; Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Wojcik MH; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.; Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Kruszka P; GeneDx LLC, Gaithersburg, MD 20877, USA.; Li H; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA.; Litwin J; Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA.; Marcadier J; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Blackburn PR; Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA.; Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Reutter H; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany.; Schanze I; Institute of Human Genetics, 39120 Magdeburg, Germany.; Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA.; Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.; Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA.; Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Sagath L; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Kiiski K; Folkhälsan Research Center, Helsinki, Finland.; Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Naidu K; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Jonson PH; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Laarne M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Djordjevic D; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Yoon G; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.; LaGroon A; Greenville Office Greenwood Genetic Center, Greenville, SC, USA.; Rogers C; Greenville Office Greenwood Genetic Center, Greenville, SC, USA.; Galindo MK; Children's Clinics for Rehabilitative Services, Tucson, AZ, USA.; Scherer K; Department of Neurology, University of Arizona, Tucson, AZ, USA.; Kunstmann E; Praxis für Humangenetik, Julius-Maximilians-University Würzburg, Würzburg, Germany.; Koparir E; Institute for Human Genetics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.; Ho D; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, WA, Australia.; Davis M; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, WA, Australia.; Joshi P; Department of Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Zygmunt A; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Echaniz-Laguna A; Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, France.; French National Reference Center for Rare Neuropathies (CERAMIC), Le Kremlin-Bicêtre, France.; INSERM U1195, Paris-Saclay University, Le Kremlin-Bicêtre, France.; Biancalana V; Laboratoire de Diagnostic Génétique CHRU de Strasbourg, Strasbourg, France.; Genetti CA; Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA.; Iannaccone ST; Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA.; Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Wallgren-Pettersson C; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Pelin K; Folkhälsan Research Center, Helsinki, Finland.; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.; Lehtokari VL; Folkhälsan Research Center, Helsinki, Finland. vilma.lehtokari@helsinki.fi.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland. vilma.lehtokari@helsinki.fi.

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

Wojcik MH; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Clark RD; Division of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA, USA.; Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT, USA; Division of Biological Sciences, University of Montana, Missoula, MT, USA; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.; Genetti CA; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Madden JA; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Simpson D; Randall Children's Hospital, Portland, OR, USA.; Golkar L; Department of Dermatology, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Zalusky MPG; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Miller AL; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Rodriguez A; Division of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA, USA.; Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Dash CA; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Damaraju N; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Storz SHR; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Anderson ZB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Gustafson JA; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA.; Thiffault I; Children's Mercy Hospital, Kansas City, MO, USA.; Farrow EG; Children's Mercy Hospital, Kansas City, MO, USA.; Pastinen T; Children's Mercy Hospital, Kansas City, MO, USA.; Lin J; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Huang JT; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Beggs AH; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Agrawal PB; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Miller DT; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. Electronic address: dm1@uw.edu.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Hildebrandt C; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.; Logvinenko T; Clinical Research Center, Boston Children's Hospital, Harvard Medical School, MA.; Win W; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.; Barraza-Flores P; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.; Hayes LH; Department of Neurology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.; Rockowitz S; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.; Children's Rare Disease Collaborative, Boston Children's Hospital, MA.; Lehtokari VL; Folkhälsan Research Center and Department of Medical Genetics, Medicum, Faculty of Medicine, University of Helsinki, Norway.; Iannaccone ST; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX.; Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, MA.; Topaloglu H; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Türkiye.; Department of Pediatrics, Yeditepe University, İstanbul, Türkiye; and.; Wallgren-Pettersson C; Folkhälsan Research Center and Department of Medical Genetics, Medicum, Faculty of Medicine, University of Helsinki, Norway.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.; The Broad Institute of Harvard and MIT, Cambridge, MA.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Hills S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Li Q; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.; Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, Russian Federation.; Ampleeva M; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.; Zakharova EY; Research Centre for Medical Genetics, Moscow, Russia.; Chekmareva IA; Federal State Budgetary Institution 'National Medical Research Center of Surgery named after A. Vishnevsky', Ministry of Health of the Russian Federation, Moscow, Russia.; Shirokova KS; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, Russian Federation.; Atiakshin D; RUDN University, Moscow, Russian Federation.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Kamsteeg EJ; Dept Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Medici E; Dept Neurology, Erasmus University Medical Center Rotterdam, The Netherlands.; Kaat LD; Dept Clinical Genetics, Erasmus University Medical Center Rotterdam, The Netherlands.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Estrella EA; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Kunkel LM; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Mangilog B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; D'Amico A; Neuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Sole G; Neurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, France.; Martin-Négrier ML; Pathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, France.; Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research,Boston Children's Hospital, Harvard Medical School, Boston MA 02115, USA.; Valivullah ZM; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; Milic V; Clinic for Neurology and Psychiatry for Children and Youth,Belgrade,Serbia.; Kovacevic G; Mother and Child Health Care Institute,Belgrade,Serbia.; Kosac A; Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia.; Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Camelo CG; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Fahey MC; Department of Paediatrics Monash University, Melbourne, VIC, Australia.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research,Boston Children's Hospital, Harvard Medical School, Boston MA 02115, USA.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Voermans N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.; Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Patel S; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.; Zain-Ul-Abideen M; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.; Guyol G; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.; Rodan LH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.; Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.; Ren AZ; Center for Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.; Connors P; Department of Obstetrics and Gynecology, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.; Davenport P; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.; Bartolome R; Division of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.; Sahai I; New England Newborn Screening Program, Department of Pediatrics UMass University Medical School, Worcester, MA 01605-2300, United States of America.; Ganesh VS; Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States of America.; Wojcik MH; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Harris, Holly K; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S; Soucy, Aubrie; Genetti, Casie A; Suslovitch, Victoria; Rodan, Lance H; Tiller, George E; Lesca, Gaetan; Gripp, Karen W; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D; Turnpenny, Peter D; Simon, Marleen E H; Volker-Touw, Catharina M L; Gassen, Koen L I van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B A de; Immken, LaDonna L; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L; Fannemel, Madeleine; Posey, Jennifer E; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R; Larsen, Martin J; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K; Walsh, Laurence E; Aldinger, Kimberly A; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Giuseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B; Cohen, Lilian L; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B; Beggs, Alan H; Yu, Timothy W

Genetics in Medicine, 23, 6, pp. 1028-1040
Harris, H K, Nakayama, T, Lai, J, Zhao, B, Argyrou, N, Gubbels, C S, Soucy, A, Genetti, C A, Suslovitch, V, Rodan, L H, Tiller, G E, Lesca, G, Gripp, K W, Asadollahi, R, Hamosh, A, Applegate, C D, Turnpenny, P D, Simon, M E H, Volker-Touw, C M L, Gassen, K L I V, Binsbergen, E V, Pfundt, R, Gardeitchik, T, Vries, B B A D, Immken, L L, Buchanan, C, Willing, M, Toler, T L, Fassi, E, Baker, L, Vansenne, F, Wang, X, Ambrus, J L, Fannemel, M, Posey, J E, Agolini, E, Novelli, A, Rauch, A, Boonsawat, P, Fagerberg, C R, Larsen, M J, Kibaek, M, Labalme, A, Poisson, A, Payne, K K, Walsh, L E, Aldinger, K A, Balciuniene, J, Skraban, C, Gray, C, Murrell, J, Bupp, C P, Pascolini, G, Grammatico, P, Broly, M, Küry, S, Nizon, M, Rasool, I G, Zahoor, M Y, Kraus, C, Reis, A, Iqbal, M, Uguen, K, Audebert-Bellanger, S, Ferec, C, Redon, S, Baker, J, Wu, Y, Zampino, G, Syrbe, S, Brosse, I, Jamra, R A, Dobyns, W B, Cohen, L L, Blomhoff, A, Mignot, C, Keren, B, Courtin, T, Agrawal, P B, Beggs, A H & Yu, T W 2021, ' Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 6, pp. 1028-1040 . https://doi.org/10.1038/s41436-021-01114-z