부산대학교 도서관

van Oirsouw ASE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Nedbalova P; Department of Molecular Biology and Genetics, Faculty of Science, University of South Bohemia in Ceske Budejovice, Ceske Budejovice, Czech Republic.; Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. Electronic address: miroslava.hancarova@lfmotol.cuni.cz.; Prchal J; Laboratory of NMR Spectroscopy, University of Chemistry and Technology, Prague, Czech Republic.; Prchalova D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Vlckova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD.; Dyer LM; GeneDx, LLC, Gaithersburg, MD.; Chen Y; GeneDx, LLC, Gaithersburg, MD.; Carere DA; GeneDx, LLC, Gaithersburg, MD.; Te Bogt EAM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Fisher H; Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX.; Scheuerle AE; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Riley S; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD.; Jain M; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD.; Mu W; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.; Bodurtha JN; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.; van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Stokman MF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Longo N; Division of Clinical Genetics, Department of Human Genetics, University of California Los Angeles, Los Angeles, CA.; Balasubramanian M; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Costain G; The Hospital for Sick Children (SickKIds), SickKids Research Institute, and University of Toronto, Toronto, Ontario, Canada.; von der Lippe C; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Jortveit M; Department of Paediatrics, Sorlandet Hospital, Kristiansand, Norway.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Vuocolo B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Sierra RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Angle B; Division of Genetics, Advocate Children's Hospital, Park Ridge, IL.; Bontempo K; Division of Genetics, Advocate Children's Hospital, Park Ridge, IL.; Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.; Rabin R; Clinical Genetic Services, Dept. Pediatrics, NYU Grossman School of Medicine, New York, NY.; Pappas J; Clinical Genetic Services, Dept. Pediatrics, NYU Grossman School of Medicine, New York, NY.; Staffenberg DA; Department of Plastic Surgery, NYU Langone Medical Center, New York, NY.; Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Miny P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Filges I; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Alali A; West Virgina University, WV.; Vitalone K; Akron Childrens Hospital, Akron, OH.; Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.; Bi W; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.; Bradbrook S; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada; Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Perrier R; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada; Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, CA.; Gold JA; Department Pediatrics Division of Genetics Loma Linda School of Medicine, Loma Linda, CA; Department of Pediatrics Division of Genetics and Genomics University California Irvine, Irvine, CA.; Palomares Bralo M; CIBERER-ISCIII and INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain; ITHACA-European Reference Network, Spain.; Ángeles Gómez-Cano M; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Olney AH; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.; Nielsen S; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.; Ziegler A; Department of Genetics, University Hospital of Angers, Angers, France.; Bonneau D; Department of Genetics, University Hospital of Angers, Angers, France.; Prouteau C; Department of Genetics, University Hospital of Angers, Angers, France.; Bruel AL; Laboratoire de Génomique médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Caille-Benigni C; Department of Clinical Genetics, CH Troyes, Troyes, France.; Lambert L; Department of Clinical Genetics, CH Troyes, Troyes, France; INSERM U-1256, NGERE, Université de Lorraine, Nancy, France.; Yu AC; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Robin NH; Department of Genetics, Heersink UAB School of Medicine, Birmingham, AL.; Goodloe D; Department of Genetics, Heersink UAB School of Medicine, Birmingham, AL.; Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.; Porrmann J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.; Hennig YD; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany.; Herman I; Boystown National Research Hospital, Boystown, NE 68010, NE.; Johnson IR; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.; Hérissant L; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg.; Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Kamermans A; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Fenckova M; Department of Molecular Biology and Genetics, Faculty of Science, University of South Bohemia in Ceske Budejovice, Ceske Budejovice, Czech Republic. Electronic address: fenckm00@prf.jcu.cz.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: r.h.vanjaarsveld@umcutrecht.nl.

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

Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Drukewitz S; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Kour S; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Chimata AV; Department of Biology, University of Dayton, Dayton, OH, USA.; Rajan DS; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Schönnagel S; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Stals KL; Royal Devon & Exeter NHS Foundation Trust, Exeter Genomics Laboratory, Exeter EX2 5DW, UK.; Donnelly D; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK.; O'Sullivan S; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK.; Mantovani JF; Division of Child Neurology, Washington University School of Medicine, Mercy Kids Center for Neurodevelopment & Autism, St. Louis, MO 63110, USA.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Zacher P; Epilepsy Center Kleinwachau, 01454 Radeberg, Germany.; Chatron N; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Monin P; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Drunat S; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Vial Y; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Latypova X; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Levy J; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Verloes A; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR, 1141 Paris, France.; Carter JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Shankar SP; Departments of Pediatrics & Ophthalmology, Genomic Medicine, University of California, Davis Health, Sacramento, CA 95817, USA.; Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Comi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Dyer LM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Mullegama SV; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Kim HG; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ 08854, USA.; Ben-Mahmoud A; Neurological Disorder Research Center, Qatar Biomedical Research Institute, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.; Gospe SM Jr; Departments of Neurology and Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Department of Pediatrics, Duke University, Durham, NC, USA.; Belles RS; Geisinger Health System, Danville, PA 17821, USA.; Bellus G; Geisinger Health System, Danville, PA 17821, USA.; Lichtenbelt KD; Department of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands.; Oegema R; Department of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Ivanovski I; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Mau-Them FT; Laboratoire de Génomique Médicale - Centre NEOMICS, CHU Dijon Bourgogne, 21000 Dijon, France; INSERM - Université de Bourgogne - UMR1231 GAD, 21000 Dijon, France.; Garde A; Laboratoire de Génomique Médicale - Centre NEOMICS, CHU Dijon Bourgogne, 21000 Dijon, France.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.; Bley AE; Leukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany.; Bredow J; Leukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany.; Wagner T; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Decker E; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Bergmann C; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Domenach L; Department of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.; Margot H; Department of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Mefford H; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.; Singh A; Department of Biology, University of Dayton, Dayton, OH, USA.; Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA. Electronic address: udai@pitt.edu.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany. Electronic address: konrad.platzer@medizin.uni-leipzig.de.

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

Simha V; Mayo Clinic, Rochester, Minnesota, USA.; LoPiccolo MK; Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Platt A; University of Virginia, Charlottesville, Virginia, USA.; Brown RJ; NIH, Bethesda, Maryland, USA.; Johnson X; UT Southwestern Medical Center, Dallas, Texas, USA.; Carere DA; GeneDx LLC, Gaithersburg, Maryland, USA.; Donnelly C; Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Snyder MT; University of Virginia, Charlottesville, Virginia, USA.; Xing C; UT Southwestern Medical Center, Dallas, Texas, USA.; Mathews TP; UT Southwestern Medical Center, Dallas, Texas, USA.; Gopal P; UT Southwestern Medical Center, Dallas, Texas, USA.; Ward SC; Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Tomchick DR; UT Southwestern Medical Center, Dallas, Texas, USA.; Agarwal AK; UT Southwestern Medical Center, Dallas, Texas, USA.; DeBerardinis RJ; UT Southwestern Medical Center, Dallas, Texas, USA.; Garg A; UT Southwestern Medical Center, Dallas, Texas, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Kaiyrzhanov R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Neurology, South Kazakhstan Medical Academy, Shymkent 160019, Kazakhstan.; Thompson K; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Mukushev A; Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215-5400, USA.; Zharylkassyn A; The Institute of Childhood Neurology, Almaty 050000, Kazakhstan.; Prasad C; Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9.; Ghayoor Karimiani E; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, UK.; Alvi JR; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Niyazov D; Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.; Alahmad A; Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 9413813965, Iran.; Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde 541 28, Sweden.; Albash B; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait.; Alaqeel A; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait.; Charif M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.; Genetic and Immuno-Cell Therapy Team, Mohammed First University, Oujda 60000, Morocco.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran 14197 33151, Iran.; Kalantar SM; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Lenaers G; Angers University, MitoLab Team, MitoVasc Unit, CNRS UMR6015, INSERM U1083, SFR ICAT, Angers 49035, France.; Department of Neurology, University Hospital of Angers, Angers 49035, France.; Vahidi Mehrjardi MY; Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India.; Mirabutalebi SH; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Carere DA; GeneDx Inc., Gaithersburg, MD 20877, USA.; Movahedinia M; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Napier M; GeneDx Inc., Gaithersburg, MD 20877, USA.; Belanger-Quintana A; Servicio de Pediatría, Enfermedades Metabólicas Hereditarias, Hospital Universitario Ramón y Cajal, Madrid 28034, Spain.; Prasad AN; Division of Pediatric Neurology, Department of Pediatrics, Western University, London, ON, Canada N6A 5W9.; Jakobczyk J; Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9.; Roubertie A; Department of Neuropaediatrics, Gui de Chauliac Hospital, Montpellier University Hospital, Institut des Neurosciences, INSERM U 1298, Montpellier 34091, France.; Rupar T; Department of Pediatrics, University of Western Ontario, London, ON, Canada N6A5W9.; Departments of Biochemistry, Pathology and Laboratory Medicine, University of Western Ontario, London, ON, Canada N6A5W9.; Sultan T; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Sazanov L; Institute of Science and Technology Austria, Klosterneuburg A-3400, Austria.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

van Oirsouw ASE; Graduate School of Life Sciences, Utrecht University, Heidelberglaan 8, 3584 CS Utrecht, The Netherlands.; UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.; Hadders MA; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Universiteitsweg 100, Utrecht 3584 CG, The Netherlands.; Koetsier M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.; Peters EDJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.; Assia Batzir N; Pediatric Genetics Unit, Schneider Children's Medical Centerl, 14 Kaplan St., Petah Tikva 4920235, Israel.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Dr. Molewaterplein 50, Rotterdam 3000 CA, The Netherlands.; Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, United Kingdom.; Beil A; Department of Pediatrics, Division of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, United States.; Bonnet-Dupeyron MN; Consultations de Génétique, Centre Hospitalier de Valence, 179 Bd Maréchal Juin, Valence 26000, France.; Boone PM; Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Dr. Molewaterplein 50, Rotterdam 3000 CA, The Netherlands.; Carere DA; GeneDx, LLC, 207 Perry Parkway, Gaithersburg, MD 20877, United States.; Cogne B; Nantes Université, Centre Hospitalier Universitaire de Nantes, Service de Génétique médicale 1, place Alexis Ricordeau, 44093 Nantes, France.; Dunnington L; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States.; Farach LS; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States.; Manton Center for Orphan Disease Research, Boston Children's Hospital, 300 Longwood Ave., Boston, MA 02115, United States.; Isidor B; Nantes Université, Centre Hospitalier Universitaire de Nantes, Service de Génétique médicale 1, place Alexis Ricordeau, 44093 Nantes, France.; Januel L; Department of Genetics, Hospices Civils de Lyon, 3 Quai des Célestins, Lyon 69002, France.; Joshi A; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom.; Lahiri N; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom.; Lee KN; Department of Pediatrics, Division of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, United States.; Maya I; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, 39 Jabotinski St., Petah Tikva 49100, Israel.; Gray Faculty of Medical and Health Sciences, Tel Aviv University, 35 Klatzkin St, Tel Aviv 6997801, Israel.; McEntagart M; St. George's University of London & St. George's University Hospitals NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, United Kingdom.; Northrup H; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States.; Pujalte M; Department of Genetics, Hospices Civils de Lyon, 3 Quai des Célestins, Lyon 69002, France.; Richardson K; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, 6431 Fannin Street, MSB 3144B, Houston, TX 77030, United States.; Walker S; Genomics England, Translational Genomics, One Canada Square, London E14 5AB, United Kingdom.; Koeleman BPC; UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.; Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Nicastro M; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Vermeer AMC; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Postema PG; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Tadros R; Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.; Bowling FZ; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA.; Aegisdottir HM; deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Tragante V; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Mach L; National Heart and Lung Institute, Imperial College London, London, UK; Royal Brompton Hospital, London, UK; British Heart Foundation Centre of Research Excellence, Imperial College London, London, UK.; Postma AV; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Lodder EM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; van Duijvenboden K; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Zwart R; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Beekman L; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Wu L; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA.; Jurgens SJ; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; van der Zwaag PA; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.; Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Allouba M; Magdi Yacoub Foundation, Cairo, Egypt.; Aguib Y; Magdi Yacoub Foundation, Cairo, Egypt; NHLI, Imperial College, London, UK.; Santome JL; Health in Code, A Coruña, Spain.; de Una D; Health in Code, A Coruña, Spain.; Monserrat L; Medical Department, Dilemma Solutions SL. Cardiovascular Research Group A Coruña University, A Coruña, Spain.; Miranda AMA; National Heart and Lung Institute, Imperial College London, London, UK.; Kanemaru K; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Cranley J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; van Zeggeren IE; Department of Neurology, Amsterdam UMC, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, the Netherlands.; Aronica EMA; Department of Neuropathology, Amsterdam UMC location University of Amsterdam, Amsterdam Neuroscience, Amsterdam, the Netherlands.; Ripolone M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.; Zanotti S; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.; Sveinbjornsson G; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Ivarsdottir EV; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Hólm H; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Guðbjartsson DF; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Skúladóttir ÁT; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Stefánsson K; deCODE genetics/Amgen, Inc., Reykjavik, Iceland.; Nadauld L; Intermountain Healthcare, St. George, UT, USA.; Knowlton KU; Intermountain Healthcare, Salt Lake City, UT, USA.; Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Sørensen E; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Vesterager Pedersen OB; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark.; Ghouse J; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Rand SA; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Bundgaard H; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Ullum H; Statens Serum Institut, Copenhagen, Denmark.; Erikstrup C; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Aagaard B; Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.; Bruun MT; Clinical Immunology Research Unit, Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.; Christiansen M; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Jensen HK; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.; Carere DA; GeneDx, LLC, Gaithersburg, Maryland, USA.; Cummings CT; Department of Pediatrics, Division of Genetics, University of Nebraska Medical Center, Omaha, NE, USA.; Fishler K; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.; Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Brusgaard K; Department of Clinical Genetics, Lillebaelt Hospital, Institute of Regional Health Research, Odense, Denmark.; Juul TM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Saaby L; Department of Cardiology, Odense University Hospital, Odense, Denmark.; Winkel BG; Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Mogensen J; Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark.; Fortunato F; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.; van Tintelen JP; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Noseda M; National Heart and Lung Institute, Imperial College London, London, UK; British Heart Foundation Centre of Research Excellence, Imperial College London, London, UK.; Airola MV; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, USA.; Christiaans I; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.; Wilde AAM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Wilders R; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Clur SA; Department of Pediatric Cardiology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Verkerk AO; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Bezzina CR; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.; Lahrouchi N; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands; European Reference Network for Rare, Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart. Electronic address: n.lahrouchi@amsterdamumc.nl.

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

Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Leo CP; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.; Deng C; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Lin R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Karagoz I; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Zhang K; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.; Kaiyrzhanov R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Scardamaglia A; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Owrang D; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Turchetti V; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Jahnke F; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Derrick AV; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK.; Rees MI; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia.; Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.; Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan.; Li C; McMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada.; Jacquemont ML; Unité de Génétique Médicale et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de la Réunion, Saint-Pierre, France.; Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, F-21000 Dijon, France.; Valenzuela-Palafoll M; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Yoon G; Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.; Morrow MM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; O'Connor M; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.; Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.; Gerkes EH; Department of Medical Genetics, University of Groningen and University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.; Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI, USA.; Isidor B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes, France; INSERM, CNRS, UNIV Nantes, L'institut du Thorax, Nantes, France.; Rivier-Ringenbach C; Hôpital Nord-Ouest, Service de Neuropédiatrie, Villefranche sur Saône, France.; Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; Laboratoire de Génétique, Hôpital Mercy, CHR Metz-Thionville, Metz, France.; Kurul SH; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey; İzmir Biomedicine and Genome Center, Dokuz Eylül University Health Campus, İzmir, Turkey; İzmir International Biomedicine and Genome Institute, Dokuz Eylül University, İzmir, Turkey.; Soydemir D; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey.; Kara B; Division of Pediatric Neurology, Department of Pediatrics, Kocaeli University, Kocaeli, Turkey.; Sunnetci-Akkoyunlu D; Department of Medical Genetics, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey.; Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Koch-Hogrebe M; Vestische Kinder- und Jugendklinik Datteln, Abteilung für Neuropädiatrie, Datteln, Germany.; Rahner N; MVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany.; Thuresson AC; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Matsson H; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Frykholm C; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden.; Bozdoğan ST; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey.; Bisgin A; Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey; VariantGen Genetic Diagnosis, Treatment, and Healthcare Center, Adana, Turkey.; Chatron N; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Lesca G; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Cabet S; Pediatric, Woman and Fetal Imaging Department, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, 69500 Bron, France; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, 69000 Lyon, France.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Hjortshøj TD; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.; Rønde G; Department of Paediatrics and Adolescent Medicine, University Hospital Herlev, Herlev, Denmark.; Marquardt T; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; Reunert J; Department of Paediatrics, Metabolic Diseases, University of Münster, Albert-Schweitzer-Campus 1, 48149 Münster, Germany.; Afzal E; Department of Developmental and Behavioral Pediatrics, Children's Hospital and Institute of Child Health, Multan, Punjab 60000, Pakistan.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Nourbakhsh P; Department of Neurology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Chung SK; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK; Brain & Mind Centre, Faculty of Medicine & Health, Camperdown, University of Sydney, Sydney, NSW, Australia; Kids Research, Children's Hospital at Westmead, Sydney, NSW, Australia.; Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, NG5 1PB, UK.; Benke PJ; Department of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.; Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA, USA.; Calame DG; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pehlivan D; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Yilmaz HI; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.; Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.; Rad A; Arcensus GmbH, Rostock, Germany.; Abumansour IS; Neurogenetic Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Department of Pediatrics, International Medical Center, Jeddah, Saudi Arabia.; Oprea G; Arcensus GmbH, Rostock, Germany.; Bereketoğlu MB; Ege University Hospital, Department of Medical Genetics, İzmir 35100, Turkey.; Banneau G; Department of Clinical Genetics, CHU Toulouse, Toulouse, France.; Julia S; Department of Clinical Genetics, CHU Toulouse, Toulouse, France.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ashoori S; Department of Dermatology, School of Medicine, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Health Research Institute, Diabetes Research Center, Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sabri A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Parvas S; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Tajudin TA; KPJ Puteri Specialist Hospital, Hospital Sultan Ismail Johor, Johor Bahru, Malaysia.; Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi 46301, Pakistan.; Baig SM; National Institute for Biotechnology and Genetic Engineering College (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Glazunova OO; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France.; Sabine S; IHU Méditerranée Infection, 19-21 boulevard Jean Moulin, 13005 Marseille, France.; Cheema HA; Department of Pediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital and University of Child Health Sciences, Lahore, Pakistan.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Sidpra J; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London, UK.; Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.; Vona B; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XW, UK.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.; Fu D; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA. Electronic address: dragonyfu@rochester.edu.

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

Muir AM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Reich A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Zou F; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Harasink SM; Nemours Children's Health-Delaware, Division of Neurology, Wilmington, DE 19803, USA.; Tran L; Nemours Children's Health-Delaware, Division of Neurology, Wilmington, DE 19803, USA.; McGivern B; GeneDx, LLC, Gaithersburg, MD 20877, USA. Electronic address: genematcher@genedx.com.

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

Napier MP; GeneDx LLC, Gaithersburg, MD 20877, USA. Electronic address: mnapier@genedx.com.; Ryan E; GeneDx LLC, Gaithersburg, MD 20877, USA.; Reich A; GeneDx LLC, Gaithersburg, MD 20877, USA.; Suhl JA; GeneDx LLC, Gaithersburg, MD 20877, USA.; Masser-Frye D; Rady Children's Hospital, Division of Genetics, San Diego, CA 92123, USA.; Jones M; Rady Children's Hospital, Division of Genetics, San Diego, CA 92123, USA.; Beaudreau C; Children's Hospital of Georgia, Department of Pediatrics, Augusta, GA 30912, USA.; Robin N; University of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USA.; Goodloe D; University of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USA.; Folk L; GeneDx LLC, Gaithersburg, MD 20877, USA.; Morrow MM; GeneDx LLC, Gaithersburg, MD 20877, USA.; Carere DA; GeneDx LLC, Gaithersburg, MD 20877, USA.

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

Torti E; GeneDx, LLC, Gaithersburg, MD 20877, USA. Electronic address: genematcher@genedx.com.; Mullegama SV; GeneDx, LLC, Gaithersburg, MD 20877, USA.; De Bie I; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.; Mercier A; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Folk L; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Juusola J; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Redlich OL; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Reich A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; McGivern B; GeneDx, LLC, Gaithersburg, MD 20877, USA.

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

Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Drukewitz S; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Kour S; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Chimata AV; Department of Biology, University of Dayton, Dayton, OH, USA.; Rajan DS; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Schönnagel S; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Stals KL; Royal Devon & Exeter NHS Foundation Trust, Exeter Genomics Laboratory, Exeter EX2 5DW, UK.; Donnelly D; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK.; O'Sullivan S; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK.; Mantovani JF; Division of Child Neurology, Washington University School of Medicine, Mercy Kids Center for Neurodevelopment & Autism, St. Louis, MO 63110, USA.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Zacher P; Epilepsy Center Kleinwachau, 01454 Radeberg, Germany.; Chatron N; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Monin P; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Drunat S; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.; Vial Y; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.; Latypova X; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.; Levy J; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.; Verloes A; Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.; Carter JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305. USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305. USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Shankar SP; Departments of Pediatrics & Ophthalmology, Genomic Medicine, University of California Davis Health, Sacramento, CA 95817.; Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305. USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 USA.; Comi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 USA.; Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Dyer LM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Mullegama SV; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Kim HG; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ 08854, USA.; Ben-Mahmoud A; Neurological Disorder Research Center, Qatar Biomedical Research Institute, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.; Gospe SM Jr; Departments of Neurology and Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Department of Pediatrics, Duke University, Durham, NC, USA.; Belles RS; Geisinger Health System, Danville, PA 17821, USA.; Bellus G; Geisinger Health System, Danville, PA 17821, USA.; Lichtenbelt KD; Department of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands.; Oegema R; Department of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Ivanovski I; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Mau-Them FT; Laboratoire de Génomique médicale - Centre NEOMICS, CHU Dijon Bourgogne, F-21000, Dijon, France.; INSERM - Université de Bourgogne - UMR1231 GAD, F-21000, Dijon, France.; Garde A; Laboratoire de Génomique médicale - Centre NEOMICS, CHU Dijon Bourgogne, F-21000, Dijon, France.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.; Bley AE; Leukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany.; Bredow J; Leukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany.; Wagner T; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Decker E; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Bergmann C; Medizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.; Domenach L; Department of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.; Margot H; Department of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Mefford H; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.; Singh A; Department of Biology, University of Dayton, Dayton, OH, USA.; Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.; These authors jointly supervised this work.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; These authors jointly supervised this work.

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

Genetti, CA; Pinelli, M; Brunetti-Pierri, N; Garza-Flores, A; Jackson, Adam; Shahani, D; Saneto, RP; Zampino, G; Leoni, C; Agolini, E; Novelli, A; Haack, BUBTB; Heinritz, W; Matzker, E; Alhaddad, B; Abou Jamra, R; Bartolomaeus, T; AlHamdan, S; Carapito, R; Isidor, B; Bahram, S; Ritter, A; Izumi, K; Shakked, B; Barel, O; Ben Zeev, B; Begtrup, A; Carere, DA; Mullegama, SV; Palculict, TB; Calame, DG; Schwan, K; Aycinena, ARP; Traberg, R; Douzgou, S; Pirt, H; Banka, S; Chao, HT

Genomics England Research Consortium, Genetti, CA, Pinelli, M, Brunetti-Pierri, N, Garza-Flores, A, Jackson, A, Shahani, D, Saneto, RP, Zampino, G, Leoni, C, Agolini, E, Novelli, A, Haack, BUBTB, Heinritz, W, Matzker, E, Alhaddad, B, Abou Jamra, R, Bartolomaeus, T, AlHamdan, S, Carapito, R, Isidor, B, Bahram, S, Ritter, A, Izumi, K, Shakked, B, Barel, O, Ben Zeev, B, Begtrup, A, Carere, DA, Mullegama, SV, Palculict, TB, Calame, DG, Schwan, K, Aycinena, ARP, Traberg, R, Douzgou, S, Pirt, H, Banka, S & Chao, HT 2023, 'Erratum : Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (The American Journal of Human Genetics (2023) 110(1) (120–145), (S000292972200502X), (10.1016/j.ajhg.2022.11.011))', American Journal of Human Genetics, vol. 110, no. 3, pp. 548. https://doi.org/10.1016/j.ajhg.2023.02.010

Funari, Enzo; Martinelli, Angiolo; Blasi, Monica Francesca; Carere, Mario; Bella, Valentina Della; Mancini, Laura; Marcheggiani, Stefania; Mattera, Francesco; Stefanelli, Mara; Cecchi, Lorenzo; ORLANDINI, SIMONE; Morabito, Marco; BINDI, MARCO; Moriondo, Marco; Forastieri, Francesco

Aref-Eshghi E; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Anderson KJ; University of Vermont Larner College of Medicine, Department of Pediatrics, Division of Clinical Genetics, Burlington, VT 05401, USA.; Boulay L; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO 80045, USA.; Brown K; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO 80045, USA.; Duis J; RareDiseaseDoc, LLC, Aurora, CO, USA.; Giummo CA; University of Vermont Larner College of Medicine, Department of Pediatrics, Division of Clinical Genetics, Burlington, VT 05401, USA.; Ogawa J; Case Western Reserve University School of Medicine/Rainbow Babies and Children's Hospital, Department of Genetics and Genome Sciences, Cleveland, OH 44106, USA.; Carere DA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Normand EA; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Qian Y; GeneDx, LLC, Gaithersburg, MD 20877, USA.; McWalter K; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Torti E; GeneDx, LLC, Gaithersburg, MD 20877, USA. Electronic address: genematcher@genedx.com.

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

Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Ziats C; Shodair Children's Hospital, Helena, MT, USA.; Have J; Shodair Children's Hospital, Helena, MT, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Steel D; UCL Great Ormond Street Institute of Child Health, London, UK.; Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK.; Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.; Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.; Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Douglas J; Harvard Medical School, Boston, MA, USA.; Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Longo N; University of Utah, Salt Lake City, UT, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Balci T; University of Western Ontario, London, ON, Canada.; Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Traeger Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.; Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Au B; University of Calgary, Calgary, AB, Canada.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA.; James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.; Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; L E Guyader G; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.; Kaplan J; Nemours Children's Health, Wilmington, DE, USA.; Muss C; Nemours Children's Health, Wilmington, DE, USA.; Carere DA; GeneDx, Gaithersburg, MD, USA.; Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu.; Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

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

Ancona, C.; Ascoli, V.; Bastone, A.; Beccaloni, E.; Benedetti, M.; Bianchi, F.; Biggeri, A.; Binazzi, A.; Bruno, C.; Cadum, E.; Caranci, N.; Carboni, C.; Carere, M.; Catelan, D.; Cernigliaro, A.; Comba, P.; Conti, S.; Corfiati, M.; Demaria, M.; Santis, M.D.; Falleni, F.; Fazzo, L.; Forastiere, F.; Goldoni, C.A.; Grisotto, L.; Iavarone, I.; Leonardi, M.; Manno, V.; Marcello, I.; Marinaccio, A.; Marsili, G.; Martuzzi, M.; Minelli, G.; Minichilli, F.; Mitis, F.; Musmeci, L.; Pasetto, R.; Piccardi, A.; Pirastu, R.; Santoro, M.; Scaini, F.; Soggiu, M.E.; Zona, A.; Autelitano, M.; Benfatto, L.; Bonelli, L.; Bianconi, F.; Bidoli, E.; Buzzoni, C.; Candela, G.; Cocchioni, M.; Coviello, E.; Cremone, L.; Crocetti, E.; Tos, A.P.D.; Falcini, F.; Federico, M.; Ferretti, S.; Fusco, M.; Giacomin, A.; Gola, G.; Guzzinati, S.; Rosa, F.L.; Lillini, R.; Madeddu, A.; Magoni, M.; Mangone, L.; Maspero, S.; Maule, M.; Mazzoleni, G.; Merletti, F.; Michiara, M.; Minerba, S.; Nicita, C.; Pannozzo, F.; Piffer, S.; Ricci, P.; Sacerdote, C.; Sciacca, S.; Sechi, O.; Serraino, D.; Stracci, F.; Sardo, A.S.; Tagliabue, G.; Tisano, F.; Usala, M.; Vercelli, M.; Vitale, F.; Vitarelli, S.; Zambon, P.

In: Epidemiologia e Prevenzione. (Epidemiologia e Prevenzione, March-April 2014, 38(2))

Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Ziats C; Shodair Children's Hospital, Helena, MT, USA.; Have J; Shodair Children's Hospital, Helena, MT, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Steel D; UCL Great Ormond Street Institute of Child Health, London, UK.; Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK.; Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.; Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.; Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Douglas J; Harvard Medical School, Boston, MA, USA.; Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Longo N; University of Utah, Salt Lake City, UT, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Balci T; University of Western Ontario, London, ON, Canada.; Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Synodinos JT; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.; Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Au B; University of Calgary, Calgary, AB, Canada.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA.; James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.; Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guyader GLE; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.; Kaplan J; Nemours Children's Health, Wilmington, DE, USA.; Muss C; Nemours Children's Health, Wilmington, DE, USA.; Carere DA; GeneDx, Gaithersburg, MD, USA.; Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu.; Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE; PubMed not MEDLINE

Karayol R; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.; Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Namasivayam A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.; Reilly J; Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, ON N6A 3K7, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Shvedunova M; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany.; Petersen AK; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA.; Magnussen K; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.; Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Mulligan MR; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Poke G; Genetic Health Service New Zealand, Wellington, New Zealand.; Abu-El-Haija A; Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Duis J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.; Hannig V; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.; Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA.; van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Hamiel U; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.; Henig N; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel.; Baris Feldman H; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel.; McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK.; Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Lei Y; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.; Todorova A; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Yordanova R; Department of pediatrics 'Prof. Ivan Andreev', Medical university - Plovdiv, Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Rogac M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK.; Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Peron A; SOC Genetica Medica, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy.; Iascone M; Department of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy.; Canevini MP; Epilepsy Center - Sleep Medicine Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy.; Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA.; Reyes IA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA.; Kierstein J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.; Shen JJ; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, UC Davis, Sacramento, CA 95817, USA.; Ahmed FN; Division of Genomic Medicine, Department of Pediatrics, UC Davis, Sacramento, CA 95817, USA.; Mao X; National Health Commission Key Laboratory of Birth Defects Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China; Nanhua University, Chiayi County, Taiwan.; Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Blanco-Kelly F; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, German.; Treu AB; Epilepsy Center Kleinwachau, Radeberg, Germany.; Quilichini J; Service de Médecine Génomique des maladies de système et d'organe, APHP, Centre Université Paris Cité, Paris, France.; Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France.; Chatron N; Department of Genetics, Lyon University Hospital, Lyon, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Januel L; Department of Genetics, Lyon University Hospital, Lyon, France.; Rougeot C; Department of Neuropediatrics, Lyon University Hospital, Lyon, France.; Carere DA; GeneDx, Gaithersburg, MD 20877, USA.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.; Rousseau J; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.; Myers KA; Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.; Akhtar A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany. Electronic address: akhtar@ie-freiburg.mpg.de.; Campeau PM; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.

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

Nicastro M; Vermeer AMC; Postema PG; Tadros R; Bowling FZ; Aegisdottir HM; Tragante V; Mach L; Postma AV; Lodder EM; van Duijvenboden K; Zwart R; Beekman L; Wu L; van der Zwaag PA; Alders M; Allouba M; Aguib Y; Santomel JL; de Una D; Monserrat L; Miranda AMA; Kanemaru K; Cranley J; van Zeggeren IE; Aronica EMA; Ripolone M; Zanotti S; Sveinbjornsson G; Ivarsdottir EV; Hólm H; Guðbjartsson DF; Skúladóttir ÁT; Stefánsson K; Nadauld L; Knowlton KU; Ostrowski SR; Sørensen E; Vesterager Pedersen OB; Ghouse J; Rand S; Bundgaard H; Ullum H; Erikstrup C; Aagaard B; Bruun MT; Christiansen M; Jensen HK; Carere DA; Cummings CT; Fishler K; Tøring PM; Brusgaard K; Juul TM; Saaby L; Winkel BG; Mogensen J; Fortunato F; Comi GP; Ronchi D; van Tintelen JP; Noseda M; Airola MV; Christiaans I; Wilde AAM; Wilders R; Clur SA; Verkerk AO; Bezzina CR; Lahrouchi N

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

Psicoterapia e scienze umane. (4)