부산대학교 도서관

Yates, Carin L ; Monaghan, Kristin G ; Copenheaver, Deborah ; Retterer, Kyle ; Scuffins, Julie ; Kucera, Cathlin R ; Friedman, Bethany ; Richard, Gabriele ; Juusola, Jane

In Genetics in Medicine October 2017 19(10):1171-1178

Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. sebastien.kury@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. sebastien.kury@chu-nantes.fr.; Stanton JE; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Bosc-Rosati A; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Bray L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Oloudé M; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.; Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Scott-Boyer MP; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Most V; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.; Papendorf JJ; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; de Konink C; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Studencka-Turski M; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Hajdukowicz AM; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Thiel FG; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Wolfgramm S; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Florenceau L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Marsac S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Verrès Y; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Dangoumau A; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Poirier L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Tuttle A; GeneDx, LLC, Gaithersburg, MD, USA.; Forster C; Loyola University Chicago, Chicago, IL, USA.; Striesow J; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.; Golnik R; Department of Computer Science and Interdisciplinary Center for Bioinformatics, Bioinformatics Group, Universität Leipzig, Leipzig, Germany.; Ortiz D; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.; Jenkins L; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.; Ziegler A; Department of Medical Genetics, University Hospital of Toulouse, Toulouse, France.; Houdayer C; Service de Génétique médicale, CHU Angers, Angers, France.; Bonneau D; Service de Génétique médicale, CHU Angers, Angers, France.; Mitovasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France.; Torti E; GeneDx, LLC, Gaithersburg, MD, USA.; Begtrup A; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Mullegama SV; GeneDx, LLC, Gaithersburg, MD, USA.; Volker-Touw CMLN; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; de Pagter MS; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Steindl K; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland.; Ivanovski I; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; McDonald K; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.; Boothe E; University of Mississippi Medical Center, Jackson, MS, USA.; Dauber A; Division of Endocrinology, Children's National Hospital and Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.; Baker J; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.; Fabie NAV; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.; Bernier RA; Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Srivastava S; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Dies KA; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Swanson LC; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Costin C; Department of Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH, USA.; Abdulrazak A; Division of Genetics, Department of Pediatrics, West Virginia University School of Medicine, One Medical Center Drive, Morgantown, WV, USA.; Jobling RK; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, NY, USA.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Niyazov D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Chun-Hui Tsai A; Department of Pediatrics, College of Medicine, University of Illinois, Chicago, IL, USA.; Kovak K; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, OHSU, Portland, OR, USA.; Beck DB; Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY, USA.; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.; Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Adams DR; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Wolfe L; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Ganetzky RD; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; Muraresku CC; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Babikyan D; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, Yerevan, Armenia.; Laboratory of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.; Sedláček Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Hančárová M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Timberlake AT; Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA.; Saif HA; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Department of Pediatrics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Nestler B; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; King K; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Prendergast D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Li C; McMaster University Medical Center, Hamilton, ON, Canada.; Geneviève D; Université Montpellier, Inserm U 1183, Centre de référence maladies rares anomalies du développement, Service de génétique médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.; Vitobello A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Sorlin A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Philippe C; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Harel T; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Toker O; Department of Pediatrics, Allergy and Clinical Immunology Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Sabir A; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Lim D; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Hamilton MJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Bryson LJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Cleary E; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.; UK Dementia Research Institute at University of Edinburgh, University of Edinburgh, Edinburgh, UK.; Weber S; Service de Génétique Médicale, Hôpital Armand-Trousseau, APHP, Sorbonne Université, Paris, France.; Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Gómez-Andrés D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Ververi A; Department of Genetics for Rare Diseases, 'Papageorgiou' General Hospital, Thessaloniki, Greece.; Pavlidou E; Department of Speech and Language Therapy, University Hospital of Ioannina, Ioannina, Greece.; Lambropoulos A; Genetic Unit, 1st Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 'Papageorgiou' General Hospital, Thessaloniki, Greece.; Garganis K; Epilepsy Unit, St Luke's Hospital, Thessaloniki, Greece.; Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Multi-site medical biology laboratory SeqOIA-FMG2025, Paris, France.; Langas SJ; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; McRae AM; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Lessard MK; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; D'Agostino MD; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; De Bie I; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, University Hospital Magdeburg, Magdeburg, Germany.; Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Wiame E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Thompson ML; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Schroeder MC; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Gooch C; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St Louis, St. Louis, MO, USA.; Smith RA; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA.; Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA.; Busch LM; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.; Wende K; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Meiler J; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Department of Chemistry, Department of Pharmacology, Center for Structural Biology, Institute of Chemical Biology, Center for Applied Artificial Intelligence in Protein Dynamics, Vanderbilt University, Nashville, TN, USA.; Ripoll C; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Bigou S; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Laumonnier F; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Leipzig, Germany.; Charité Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, Berlin, Germany.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; McWalter K; GeneDx, LLC, Gaithersburg, MD, USA.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Roux-Dalvai F; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Elgersma Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Marcoux J; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Bousquet MP; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Droit A; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Département de médecine moléculaire, Faculté de médecine, Université Laval, 2325 rue de l'Université, Québec, QC, Canada.; Poschmann J; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.; Grabrucker AM; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; Health Research Institute (HRI), University of Limerick, Limerick, Ireland.; Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. stephane.bezieau@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. stephane.bezieau@chu-nantes.fr.; Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. frederic.ebstein@univ-nantes.fr.; Krüger E; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany. elke.krueger@uni-greifswald.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Mirzaa GM; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Yan K; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Levesque M; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada.; Jayasinghe P; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada.; Timpano S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Yalcin B; INSERM UMR1231, University of Bourgogne, Dijon, France.; Collins S; INSERM UMR1231, University of Bourgogne, Dijon, France.; Ziegler A; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.; Pao E; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Oyama N; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brischoux-Boucher E; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; Piard J; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.; Monaghan KG; GeneDx, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Dobyns WB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.; Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora CO, USA.; Fernández-Mayoralas DM; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain.; Fernández-Jaén A; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.; Palomares-Bralo M; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.; Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Molecular Biotechnology Center 'Guido Tarrone', University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.; Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro, ' University of Palermo, Palermo, Italy.; Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; 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.; Conrad S; 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.; Deb W; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Štěrbová K; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol Epilepsy Center, University Hospital Motol, Prague, Czech Republic.; Smal N; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Innes AM; Departments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Koboldt DC; 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IASO Children's Hospital, Athens, Greece.; Moutton S; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France.; Nambot S; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France.; Chanprasert S; Division of Medical Genetics, University of Washington, Seattle, WA, USA.; Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Miller K; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Burton B; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Kim K; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; 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Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie S; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid P C; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin W; Shashi, Vandana; Sullivan, Jennifer A; Peron, Angela; Iascone, Maria; Canevini, Maria P; Friedman, Jennifer; Reyes, Iris A; Kierstein, Janell; Shen, Joseph J; Ahmed, Faria N; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G; Rousseau, Justine; Myers, Kenneth A; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M

Am J Hum Genet
American Journal of Human Genetics, vol 111, iss 7

Ziegler A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Koval-Burt C; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Kay DM; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany.; Suchy SF; GeneDx, LLC, Gaithersburg, Maryland.; Begtrup A; GeneDx, LLC, Gaithersburg, Maryland.; Langley KG; GeneDx, LLC, Gaithersburg, Maryland.; Hernan R; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Amendola LM; Illumina, San Diego, California.; Boyd BM; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Bradley J; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany.; Brandt T; GeneDx, LLC, Gaithersburg, Maryland.; Cohen LL; NewYork-Presbyterian Weill Cornell Medical Center, New York.; Coffey AJ; Illumina, San Diego, California.; Devaney JM; GeneDx, LLC, Gaithersburg, Maryland.; Dygulska B; NewYork-Presbyterian Brooklyn Methodist Hospital, New York.; Friedman B; GeneDx, LLC, Gaithersburg, Maryland.; Fuleihan RL; Division of Allergy, Immunology & Rheumatology, Columbia University Irving Medical Center, New York, New York.; Gyimah A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Hahn S; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle.; Hofherr S; GeneDx, LLC, Gaithersburg, Maryland.; Hruska KS; GeneDx, LLC, Gaithersburg, Maryland.; Hu Z; Department of Systems Biology, Columbia University Irving Medical Center, New York, New York.; Jeanne M; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Jin G; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Johnson DA; GeneDx, LLC, Gaithersburg, Maryland.; Kavus H; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Leibel RL; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Lobritto SJ; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; McGee S; GeneDx, LLC, Gaithersburg, Maryland.; Milner JD; Division of Allergy, Immunology & Rheumatology, Columbia University Irving Medical Center, New York, New York.; McWalter K; GeneDx, LLC, Gaithersburg, Maryland.; Monaghan KG; GeneDx, LLC, Gaithersburg, Maryland.; Orange JS; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Pimentel Soler N; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Quevedo Y; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Ratner S; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Retterer K; GeneDx, LLC, Gaithersburg, Maryland.; Shah A; Division of Pediatric Cardiology, Department of Pediatrics, Weill Cornell Medical College, New York, New York.; Shapiro N; NewYork-Presbyterian Queens, Flushing.; Sicko RJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany.; Silver ES; Division of Pediatric Cardiology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Strom S; Illumina, San Diego, California.; Torene RI; GeneDx, LLC, Gaithersburg, Maryland.; Williams O; Division of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Ustach VD; GeneDx, LLC, Gaithersburg, Maryland.; Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Taft RJ; Illumina, San Diego, California.; Kruszka P; GeneDx, LLC, Gaithersburg, Maryland.; Caggana M; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.

Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

Malbos M; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Vera G; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Sheth H; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Schnur RE; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA.; Juven A; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Brehin AC; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Sheth J; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Gandhi A; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Shapiro FL; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA.; Bruel AL; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Marguet F; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Begtrup A; GeneDx, Gaithersburg, Maryland, USA.; Monaghan KG; GeneDx, Gaithersburg, Maryland, USA.; Safraou H; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Brasseur-Daudruy M; Radiologie pédiatrique, CHU de Rouen, Rouen, France.; Mau-Them FT; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Duffourd Y; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Faivre L; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Thauvin-Robinet C; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Philippe C; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Laboratoire de Génétique, CHR Metz-Thionville, Hôpital Mercy, Metz, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Asadollahi R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. R.Asadollahi@greenwich.ac.uk.; Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK. R.Asadollahi@greenwich.ac.uk.; Ahmad A; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Boonsawat P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Shahanoor Hinzen J; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Lohse M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Bouazza-Arostegui B; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Sun S; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Utesch T; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Sommer JD; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ilic D; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Padmanarayana M; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Fischermanns K; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ranjan M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Boll M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ka C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Reinson K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.; Stephan BO; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Hospital, Memphis, TN, USA.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Brown NJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Lake NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Zeidler S; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Zuurbier L; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.; Maas SM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.; de Kruiff CC; Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Beblo S; Center for Pediatric Research, University Hospital for Children and Adolescents, and Centre for Rare Diseases, University Hospital Leipzig, Leipzig, Germany.; Maxton C; Zentrum für Kinderneurologie, Hamburg, Germany.; Śmigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wrocław, Wrocław, Poland.; Underhill H; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.; Dubbs H; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rosen A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig KL; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Center for Epilepsy and Neurodevelopmental Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ruggiero SM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fitzgerald MP; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Kraemer D; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Prada CE; Division of Genetics and Rare Diseases, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Tenney J; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.; Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Lefranc J; Pediatrics Department, Competence Center for Epilepsy, Hôpital Morvan, CHU Brest, Brest, France.; Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Race S; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Coppens S; Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Deconinck N; Centre de Référence Neuromusculaire and Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles, Brussels, Belgium.; Ashokkumar B; School of Biotechnology, Madurai Kamaraj University, Madurai, India.; Varalakshmi P; School of Biotechnology, Madurai Kamaraj University, Madurai, India.; Gowda K VR; Indira Gandhi Institute of Child Health, Bangalore, India.; Bangalore Child Neurology and Rehabilitation Center, Bangalore, India.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Neidhardt J; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.; Owczarek-Lipska M; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.; Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.; Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada.; Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.; Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Chen Y; GeneDx, LLC, Gaithersburg, MD, USA.; Szuto A; The Hospital for Sick Children, Toronto, Ontario, Canada.; Cohn RD; The Hospital for Sick Children, Toronto, Ontario, Canada.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Hübner C; Department of Neuropediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Boschann F; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Manickam K; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Koboldt DC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Rad A; Arcensus GmbH, Rostock, Germany.; Oprea G; Arcensus GmbH, Rostock, Germany.; Bachman KK; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.; Seeley AH; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Carmelo P; Medical and Laboratory Genetics Unit, A.O.R.N. 'Antonio Cardarelli', Naples, Italy.; Bupp C; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Grysko B; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Rein-Rothschild A; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Ben Zeev B; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Margolin A; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Morrison J; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Dagli A; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Washington C; Greenwood Genetic Center, Greenwood, SC, USA.; Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Heijligers M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Paoli Monteiro F; Medical Department, Mendelics Genomic Analysis, São Paulo, Brazil.; Santos Pessoa AL; Federal University of Ceará - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Camelo-Filho AE; Federal University of Ceará - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Kok F; Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil.; Koeberl D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Riley K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, Hôpital Trousseau, AP-HP.Sorbonne Université, Paris, France.; Doummar D; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France.; Héron B; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France.; Mignot C; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.; Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.; Charles P; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.; Nava C; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.; Bernhard FP; Department of Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany.; Kühn AA; Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Thoms S; Biochemistry and Molecular Medicine, Medical School OWL, Bielefeld University, Bielefeld, Germany.; Morrie RD; Trace Neuroscience, South San Francisco, CA, USA.; Mekhoubad S; Trace Neuroscience, South San Francisco, CA, USA.; Green EM; Trace Neuroscience, South San Francisco, CA, USA.; Barmada SJ; University of Michigan School of Medicine, Ann Arbor, MI, USA.; Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Jahn O; Neuroproteomics Group, Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Translational Neuroproteomics Group, Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany.; Rhee JS; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Rosenmund C; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Mitkovski M; City Campus Light Microscopy Facility, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Sun H; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Le Gac G; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Taschenberger H; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Brose N; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Dittman JS; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Children's Hospital, University Zurich, Zurich, Switzerland.; Lipstein N; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. 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Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

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

Cope HL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA. hcope@rti.org.; Jalazo ER; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Berg JS; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Sullivan JA; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Kucera KS; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Shone SM; Division of Public Health, North Carolina Department of Health and Human Services, Raleigh, NC, USA.; Frawley HE; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Gwaltney AY; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Forsythe AN; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Migliore BA; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Wright B; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Moultrie RR; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Milko LV; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Zimmerman RS; GeneDx, LLC, Gaithersburg, MD, USA.; Kruszka P; GeneDx, LLC, Gaithersburg, MD, USA.; Suchy SF; GeneDx, LLC, Gaithersburg, MD, USA.; Begtrup A; GeneDx, LLC, Gaithersburg, MD, USA.; Langley KG; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Kraczkowski C; GeneDx, LLC, Gaithersburg, MD, USA.; Guenzel AJ; GeneDx, LLC, Gaithersburg, MD, USA.; McWalter K; GeneDx, LLC, Gaithersburg, MD, USA.; Hruska KS; GeneDx, LLC, Gaithersburg, MD, USA.; Bailey DB Jr; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Wheeler AC; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Raspa M; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.; Powell CM; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Peay HL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC, USA.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Guimier, Anne; Pontual, Loïc de; Braddock, Stephen R; Torti, Erin; Pérez-Jurado, Luis A; Muñoz-Cabello, Patricia; Arumí, Montserrat; Monaghan, Kristin G; Lee, Hane; Wang, Lee-kai; Pluym, Ilina D; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cécile; Houyel, Lucile; Cohen, Laurence; Lyonnet, Stanislas; Bajolle, Fanny; Amiel, Jeanne

Human Molecular Genetics; Feb2023, Vol. 32 Issue 3, p353-356, 4p

Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Rodriguez-Aliaga P; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Yuan W; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Franken L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Zajt K; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Hasan D; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Lee TT; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.; Hentschel A; Leibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada.; Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.; Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Zhang X; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.; Carroll R; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.; McClatchey M; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Fry AE; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Wang L; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Giesselmann S; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Hoang H; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Baldridge D; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Silverman GA; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Bertini E; Neuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada.; de Sainte Agathe JM; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Laboratoire de Médecine Génomique Sorbonne Université, LBM SeqOIA, Paris 75014, France.; Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.; Čuturilo G; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.; Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.; van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.; Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA.; Maier A; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Wolking S; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Weber Y; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Meyer S; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Aleman A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560030, India.; Nicolas G; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Goldenberg A; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Guyant L; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Pope K; University of South Florida, College of Public Health, Tampa, FL 33612, USA.; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.; Hehmeyer KN; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.; Quade A; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.; Caumes R; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.; Duerinckx S; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.; Depondt C; Department of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.; Van Paesschen W; Laboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Rieubland C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Poloni C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland.; Arcioni S; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Division of Medical Genetics, Central Institute of Hospitals, Valais Hospital, Sion 1951, Switzerland.; Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.; Jansen AC; Department of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium.; Rosenblum J; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Magg J; Department of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Schulz JB; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Wagner N; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Wiesmann M; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Roos A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department for Pediatric Neurology, University Medicine Essen, Duisburg-Essen University, 45147 Essen, Germany.; Institute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.; Häusler M; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Bremer J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Pak SC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Frydman J; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Scala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Björn; Monaghan, Kristin G; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney

Brain: A Journal of Neurology. Sep2022, Vol. 145 Issue 9, p3308-3327. 20p.

McGivern B; GeneDx, LLC, Gaithersburg, MD 20877, USA. Electronic address: genematcher@genedx.com.; Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Guillen Sacoto MJ; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Gudbjartsson H; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Bai Y; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Bodamer O; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of Harvard University and MIT, Cambridge, MA 02142, USA.; Crunk A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Dameron AE; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Dyer LM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Henderson LB; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Irons M; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg, Hamburg, Germany.; McGowan C; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD 20877, USA.; O'Connor K; Department of Pediatrics, Division of Medical Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA; Child Health Institute of New Jersey at Rutgers University, New Brunswick, NJ 08901 USA.; Rashid A; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Redlich OL; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Reich A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Simotas C; Department of Pediatrics, Division of Medical Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA; Child Health Institute of New Jersey at Rutgers University, New Brunswick, NJ 08901 USA.; Welner S; Department of Pediatrics, Division of Medical Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA; Child Health Institute of New Jersey at Rutgers University, New Brunswick, NJ 08901 USA.; Wentzensen IM; 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

Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Geist Hauserman, Janelle; Cummings, Beryl B; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S; Ghosh, Partha S; Monaghan, Kristin G; Edassery, Seby L; Ferle, Pia E; Silverstein, Sarah; Chao, Katherine R; Snyder, Molly; Ellingwood, Sara

EMBO Molecular Medicine; 12/7/2021, Vol. 13 Issue 12, p1-17, 17p

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

Zerafati-Jahromi G; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.; Oxman E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Hoang HD; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Charng WL; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.; Kotla T; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Yuan W; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Ishibashi K; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Sebaoui S; Center for Neuroscience Research, Children's National Hospital, Washington, DC, USA.; Luedtke K; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Winrow B; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Center for Computational Genomics Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Manso-Basúz C; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Spataro N; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Kannu P; Department of Medical Genetics, Alberta Health Services, Edmonton, AB, Canada.; Athey T; Department of Medical Genetics, Alberta Health Services, Edmonton, AB, Canada.; Peroutka C; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Barnes C; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Anadiotis G; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA.; Magnussen K; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA.; Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Moles-Fernandez A; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Berger S; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Grant CL; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA.; Arnadottir GA; 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Department of Neurology, Harvard Medical School, Boston, MA, USA.; Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Tran Y; Department of Neurology, Baylor College of Medicine, Houston, TX, USA.; Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Hall AL; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; McGivern B; GeneDx, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Baldridge D; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Silverman GA; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Dahiya S; Department of Pathology, Washington University in St. Louis, St. Louis, MO, USA.; Turner TN; Department of Genetics, Washington University in St. Louis, St. Louis, MO, USA.; Schedl T; Department of Genetics, Washington University in St. Louis, St. Louis, MO, USA.; Corbin JG; Center for Neuroscience Research, Children's National Hospital, Washington, DC, USA.; Pak SC; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Zohn IE; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA. Electronic address: izohn@childrensnational.org.; Gurnett CA; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address: gurnettc@wustl.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

McGivern B; GeneDx, LLC, Gaithersburg, MD, USA. Electronic address: genematcher@genedx.com.; Morrow MM; GeneDx, LLC, Gaithersburg, MD, USA.; Torti E; GeneDx, LLC, Gaithersburg, MD, USA.; McWalter K; GeneDx, LLC, Gaithersburg, MD, USA.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, Toronto, ON, Canada.; Botsford C; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Jurgensmeyer S; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Leahy P; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Kruszka P; GeneDx, LLC, Gaithersburg, MD, 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

Cope HL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC. Electronic address: hcope@rti.org.; Milko LV; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.; Jalazo ER; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.; Crissman BG; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC.; Foreman AKM; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.; Powell BC; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.; deJong NA; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.; Hunter JE; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC.; Boyea BL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC.; Forsythe AN; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC.; Wheeler AC; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC.; Zimmerman RS; GeneDx, LLC, Gaithersburg, MD.; Suchy SF; GeneDx, LLC, Gaithersburg, MD.; Begtrup A; GeneDx, LLC, Gaithersburg, MD.; Langley KG; GeneDx, LLC, Gaithersburg, MD.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD.; Kraczkowski C; GeneDx, LLC, Gaithersburg, MD.; Hruska KS; GeneDx, LLC, Gaithersburg, MD.; Kruszka P; GeneDx, LLC, Gaithersburg, MD.; Kucera KS; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC.; Berg JS; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.; Powell CM; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC; Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.; Peay HL; GenOmics and Translational Research Center, RTI International, Research Triangle Park, NC.

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

Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi JL; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Russi, Alvaro H Serrano; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases; Wolfe, Lynne A; Rosenfeld, Jill A; Rhodes, Lindsay; Freeze, Hudson H

Journal of Inherited Metabolic Disease, vol 43, iss 6

Capri, Yline; Flex, Elisabetta; Krumbach, Oliver HF; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei Adariani, Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette; Pantaleoni, Francesca; Lepri, Francesca R; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Cuturilo, Goran; Kazemein Jasemi, Neda S; Dvorsky, Radovan; Monaghan, Kristin G; Vincent, Lisa M; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R; Tartaglia, Marco; Zenker, Martin

American Journal of Human Genetics, vol 104, iss 6