부산대학교 도서관

Efthymiou, S; Herman, I; Rahman, F; Anwar, N; Maroofian, R; Yip, J; Mitani, T; Calame, DG; Hunter, JV; Sutton, VR; Yilmaz Gulec, E; Duan, R; Fatih, JM; Marafi, D; Pehlivan, D; Jhangiani, SN; Gibbs, RA; Posey, JE; SYNAPS Study Group; Maqbool, S; Lupski, JR; Houlden, H

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

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

Johnson, K; Pflugh, DL; Yu, DN; Hesslein, DGT; Lin, KI; Bothwell, ALM; Thomas-Tikhonenko, A; Schatz, DG; Calame, K

NATURE IMMUNOLOGY; AUG 2004, 5 8, p853-p861, 9p.

Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Sandoval A; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Maroofian R; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, WC1N 3BG London, UK.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, University Rouen Normandie, Inserm U1245 and CHU Rouen, 76000 Rouen, France.; Al Shamsi AM; Department of Pediatrics, Division of Genetic and Metabolic, Tawam Hospital, Al Ain, United Arab Emirates.; Lee GS; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Yesilbas O; Division of Pediatric Critical Care Medicine, Ataşehir Memorial Hospital, İstanbul, Türkiye.; Taylor P; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; McDougal MB; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Bahrambeigi V; Diagnostic Genetics and Genomics, Yale University School of Medicine, New Haven, CT, USA.; Aryani O; Neuroscience Department, Iran University of Medical Sciences, Tehran, Iran.; Ramirez JF; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Salih KH; Clinical Science, College of Medicine, University of Sulaimani, Sulaymaniyah, Iraq.; Al Alam C; Division of Pediatric Neurology, American Center for Psychiatry and Neurology, Abu Dhabi and Al Ain, United Arab Emirates.; Morsy H; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, WC1N 3BG London, UK; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Hussien H; Kuwait Hospital, Block1, Sabah Al-Salem, Kuwait.; Omar T; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Brehin AC; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, U1245 and Rouen University Hospital, Inserm, 76000 Rouen, France.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Kalayci T; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Rahma JA; Neuropediatric, Clalit Health Services, Haifa and West Galilee, Israel.; Talbeya JK; Department of Radiology, The Bnai Zion Medical Center, Haifa, Israel.; Dabbah H; Pediatrics, Clalit Health Services, Haifa and West Galilee, Israel.; Verspyck E; Department of Obstetrics and Gynecology, Rouen University Hospital, Rouen, France.; Moosavian T; Pediatric Department, Pediatric Neurology Department, Loghman Hakim Hospital, Shanid Beheshti University of Medical Sciences, Tehran, Iran.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, University Rouen Normandie, Inserm U1245 and CHU Rouen, 76000 Rouen, France.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Brookline, MA, USA.; Houlden H; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, WC1N 3BG London, UK.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Shalata A; The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Haifa 32000, Israel. Electronic address: adel.shalata@b-zion.org.il.; Yoon WH; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. Electronic address: wanhee-yoon@omrf.org.

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

Levine JM; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: jesse.levine@bcm.edu.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Saad A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Celik MY; Department of Pediatric Metabolism, Adana City Training and Research Hospital, Adana, Türkiye.; Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye; Acibadem Maslak Hospital, Istanbul, Türkiye.; Yildiz Er H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Yilmaz Gulec E; Department of Medical Genetics, İstanbul Medeniyet University Medical School, Istanbul, Türkiye; Medical Genetics Clinic, Istanbul Goztepe Prof. Dr. Suleyman Yalcin City Hospital, Istanbul, Türkiye.; Mushiba A; Section of Medical Genetics, Department of Pediatrics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Almontashiri N; College of Applied Medical Sciences and Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Wiszniewski W; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA.; Karaca E; Department of Pathology, Baylor University Medical Center, Dallas, TX, USA; Texas A&M School of Medicine, Dallas, TX, USA.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Medical Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.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

Schierbaum L; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Gonzalez Saez-Diez E; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Medical Faculty, Heidelberg University, Heidelberg, 69120, Germany.; Tam A; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Rong J; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Zubair U; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Bernardi K; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Yang K; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Quiroz V; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Zaman Z; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Saffari A; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Carty S; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Agianda HAP; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Alexandrescu S; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Eichler F; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Sveden A; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - RDCRC, Bethesda, MD, 20824, USA.; Danzi MC; Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - RDCRC, Bethesda, MD, 20824, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.; Zuchner S; Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - RDCRC, Bethesda, MD, 20824, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.; Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02215  USA.; Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - RDCRC, Bethesda, MD, 20824, USA.

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

Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France.; Bergot T; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Currently in the Division of Structural Biology, The Institute of Cancer Research, London, England.; Scott-Boyer MP; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.; Chapalain S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Desdouets C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Commet S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Zhu C; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Xu Y; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Wang Y; Institutes of Biomedical Sciences and Children's Hospital, Fudan University, Shanghai, China.; Roscioli T; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales Sydney, Sydney, NSW, Australia.; Tran-Mau-Them F; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Maraval J; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Delanne J; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire-Inserm UMR1231, équipe GAD, Dijon, France.; Jost C; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.; Planes M; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France.; Hiatt S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Wheeler P; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, México.; Wang H; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Xin B; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Sency V; DDC Clinic for Special Needs Children, Middlefield, OH, USA.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.; Sulem P; deCODE Genetics/Amgen, Inc, Reykjavik, Iceland.; Curry C; Genetic Medicine, University of California, San Francisco, Fresno, CA, USA.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Strobl-Wildemann G; Department of Human Genetics, MVZ Humangenetik Ulm, Ulm, Germany.; Brunet T; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Doco Fenzy M; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Courtin T; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Génétique, DMU BioGeM, Paris, France.; Poirsier C; Département de génétique médicale, CHU Reims, Reims, France.; Bjørg Hammer T; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.; MacPherson M; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Alberta Health Services, Edmonton, AB, Canada.; Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Glass IA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Ward S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.; Borroto MCH; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.; Le Moigno L; Service de Pédiatrie et Unité d'Urgence Pédiatrique, Centre Hospitalier de Cornouaille, Quimper, France.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, Leuven, Belgium.; De Waele L; Department of Child Neurology, University Hospitals Leuven, Herestraat 49, Leuven, Belgium.; Calame DG; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Peduto C; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Planté-Bordeneuve P; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Dupuis L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Stavropoulos DJ; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Gillibert-Duplantier J; VECT'UB, TBMCore, CNRS UAR 3427, INSERM US005, Université de Bordeaux, Bordeaux, France.; Besnard T; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Do Souto Ferreira L; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Cogné B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bézieau S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Droit A; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.; Department of Molecular Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada.; Corcos L; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Lippert E; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service d'hématologie biologique, CHU de Brest, Brest, France.; CRB Santé du CHU de Brest, Brest, France.; Férec C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Küry S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bernard DG; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France. delphine.bernard@univ-brest.fr.; CRB Santé du CHU de Brest, Brest, France. delphine.bernard@univ-brest.fr.

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

Doctrove Q; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA.; Department of Human Genetics, University of Michigan, 4909 Buhl, Box 5618, Ann Arbor, MI, 48109, USA.; Park Y; Department of Human Genetics, University of Michigan, 4909 Buhl, Box 5618, Ann Arbor, MI, 48109, USA.; Calame DG; Department of Pediatric Neurology, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Developmental Neurosciences, Baylor College of Medicine, Houston, TX, 77030, USA.; Kitzman J; Department of Human Genetics, University of Michigan, 4909 Buhl, Box 5618, Ann Arbor, MI, 48109, USA.; Lenk GM; Department of Human Genetics, University of Michigan, 4909 Buhl, Box 5618, Ann Arbor, MI, 48109, USA.; Meisler MH; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA. meislerm@umich.edu.; Department of Human Genetics, University of Michigan, 4909 Buhl, Box 5618, Ann Arbor, MI, 48109, USA. meislerm@umich.edu.; Department of Neurology, University of Michigan, Ann Arbor, MI, 48109, USA. meislerm@umich.edu.

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9100916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1777 (Electronic) Linking ISSN: 09388990 NLM ISO Abbreviation: Mamm Genome Subsets: MEDLINE

Beheshti ST; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Westerfield LE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, 77030, USA.; Munderloh C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Kalra D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Wu Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Chen Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Gingras MC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Yilmaz S; Dr. Sare Nur Yilmaz, Independent Practice, Istanbul, 34758, Turkey.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lead Contact.

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

Deb W; Besnard T; Desprez F; Cogné B; Do Souto Ferreira L; Vignard V; Marouillat S; Januel L; Gorokhova S; Busa T; Morel V; Dauriat B; Desportes V; Slavotinek AM; An Y; Lee H; Hary J; Kannu P; Athey TB; van de Laar IMBH; van Slegtenhorst MA; Dickson P; Muir AM; Buchert R; Haack TB; Imort D; Sousa SB; Xavier B; Almeida PM; Rogac M; Peterlin B; Kaspar S; Netzer C; Zempel H; Towne MC; Ladda RL; Sell SS; Gawlinski P; Song X; Wiszniewski W; Calame DG; Posey JE; Ebstein F; Lupski JR; Isidor B; Bézieau S; Laumonnier F; Küry S

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

Fu Y; English AC; Paulin LF; Jhangiani SN; Weissenberger G; Vee V; Han Y; Mehta HH; Muzny DM; Gibbs RA; Posey JE; Calame DG; Sedlazeck FJ

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

Khan K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Tavares E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Bishara K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Ozanturk A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Qebibo L; Malformations and Cerebellar Congenital Diseases Reference Center, Sorbonne Université, Hôpital Trousseau, Paris, France.; Pediatric Molecular Neurogenetics Laboratory, Genetics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Frangakis S; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Meunier I; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Bocquet B; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw Poland.; Al Khateeb MA; Women's Wellness Research Center and Neonatal Intensive Care Unit, Hamad Medical Corporation, Weill Cornell Medicine, Doha, Qatar.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Mansard L; Molecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Damaj L; Department of Clinical Genetics, Competence Center of Inherited Metabolic Disorders, Rennes Hospital, Rennes, France.; Lewis RA; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Arbogast T; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Ogden JP; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Harion M; Malformations and Cerebellar Congenital Diseases Reference Center, Sorbonne Université, Hôpital Trousseau, Paris, France.; Neuropediatrics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Willems M; Institute for Neurosciences of Montpellier (INM), Univ. Montpellier, INSERM, Montpellier, France.; Department of Medical Genetics, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Roux AF; Molecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, Montpellier, France.; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Lupski JR; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw Poland.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Ramond F; Auragen Laboratory, Plan France Medecine Genomique 2025, Lyon, France.; Department of Genetics, Centre Hospitalier Universitaire de Saint-Étienne, Saint-Étienne, France.; Heon E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Burglen L; Pediatric Molecular Neurogenetics Laboratory, Genetics Department, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR1163, 75015 Paris, France.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Fisher KS; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE; In Process

Fisher KS; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Levine JM; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Ankar A; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lai YC; Division of Pediatric Critical Care Medicine, Department of Pediatrics, Baylor College of Medicine at Texas Children's Hospital, Houston, Texas, USA.; Muscal E; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Risen SR; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Riviello JJ; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Tsai PC; Department of Life Sciences, National Chung Hsing University, Taichung, Taiwan.; iEEG and Animal Biotechnology Research Center, National Chung Hsing University, Taichung, Taiwan.; Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas, USA.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Ray Das S; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Sullivan R; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Ruegg MSG; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Horsfield J; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Doran J; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Poke G; Central Hub, Genetic Health Service New Zealand, Te Whatu Ora - Health New Zealand, Wellington, New Zealand.; de Vries N; Health New Zealand, Department of Paediatrics, Palmerston North, New Zealand.; Duerinckx S; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.; Lederer D; Centre de Génétique Humaine, IPG, Charleroi, Belgium.; Haniffa M; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.; Keng WT; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.; Ch'ng GS; Department of Genetics, Penang Hospital, Penang, Malaysia.; Parry DA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Jackson AP; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Sakamoto M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Miyake N; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.; Nabatame S; Department of Pediatrics, the University of Osaka Graduate School of Medicine, Osaka, Japan.; Taniguchi H; Department of Pediatrics, the University of Osaka Graduate School of Medicine, Osaka, Japan.; Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Ilves P; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Mirzaa G; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Timms A; Norcliffe Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Pao E; Norcliffe Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Aldinger KA; Norcliffe Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA; Department of Neurology, University of Washington, Seattle, WA, USA.; Dobyns W; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.; Bohring A; Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany.; Behre B; Amedes MVZ for Pathology, Cytodiagnostics and Human Genetics, Halle/S, Germany.; Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Pascual JM; Division of Child Neurology, Weill Cornell Medicine, Cornell University, New York, NY, USA.; Abramowicz M; Department of Genetic Medicine and Development, Faculty of Medicine, Université de Geneve, Geneva, Switzerland.; Gimenez G; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand. Electronic address: louise.bicknell@otago.ac.nz.

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

Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Yesil G; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul 34093, Turkey.; Elçioglu NH; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul and Eastern Mediterranean University Faculty of Medicine, Mersin 10, Turkey.; Gezdirici A; Department of Medical Genetics, University of Health Sciences, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Pacific Northwest Research Institute, Seattle, WA 98122, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Gambin T; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

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

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

Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Harrold L; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Salter CG; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.; Kikuma T; Department of Biotechnology, College of Life Sciences, Ritsumeikan University, 1-1-1 Noji-Higashi, Kusatsu, Shiga 525-8577, Japan.; Guay KP; Program in Molecular and Cellular Biology, University of Massachusetts Amherst, Amherst, MA, USA; Department of Biochemistry and Molecular Biology, University of Massachusetts Amherst, Amherst, MA, USA.; Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.; Sano K; Department of Biotechnology, College of Life Sciences, Ritsumeikan University, 1-1-1 Noji-Higashi, Kusatsu, Shiga 525-8577, Japan.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gürsoy S; Department of Pediatric Genetics, Dokuz Eylul University, Faculty of Medicine, Izmir, Turkey.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Ahmed MKH; Department of Prenatal Diagnosis and Fetal Medicine, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Salayev K; Fetal-Neonatal Neuroimaging & Developmental Science Center, Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Jones WD; The North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.; Pérez Caballero A; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.; McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK; University of Plymouth, Plymouth, UK.; Spiller M; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Durkie M; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Wood N; Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.; O'Grady L; Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston, MA, USA.; Goldenberg P; Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston, MA, USA.; Neumeyer AM; Massachusetts General Hospital for Children, Lurie Center for Autism, Lexington, MA, USA.; Begtrup A; GeneDx LLC, Gaithersburg, MD, USA.; Abdel-Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Wenger OK; New Leaf Center, Clinic for Special Children, Mount Eaton, OH, USA.; Scott EM; New Leaf Center, Clinic for Special Children, Mount Eaton, OH, USA.; Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Leslie JS; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Ubeyratna N; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Day J; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Owens M; Exeter Genomics Laboratory, RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Settle J; Exeter Genomics Laboratory, RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Balkhy S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.; Tamim A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Takeda Y; Department of Biotechnology, College of Life Sciences, Ritsumeikan University, 1-1-1 Noji-Higashi, Kusatsu, Shiga 525-8577, Japan.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.; Hebert DN; Program in Molecular and Cellular Biology, University of Massachusetts Amherst, Amherst, MA, USA; Department of Biochemistry and Molecular Biology, University of Massachusetts Amherst, Amherst, MA, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Crosby AH; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. Electronic address: a.h.crosby@exeter.ac.uk.; Baple EL; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Gladstone Road, Exeter, UK. Electronic address: e.baple@exeter.ac.uk.

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

De Jonghe J; The Genome Function Laboratory, The Francis Crick Institute, London, UK.; Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Adedeji A; The Genome Function Laboratory, The Francis Crick Institute, London, UK.; Department of Biochemical Engineering, University College London, London, UK.; Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Blakes AJ; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Simons C; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Rius R; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Alvi JR; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.; Amblard F; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France.; Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Baer S; Service de pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Balton EV; Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.; Blanc P; Laboratoire SeqOIA, Paris, France.; Calame DG; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Coutton C; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France.; Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Dargie N; Department of Medicine, University of Washington School of Medicine, Seattle, WA, United States.; Dipple KM; Department of Pediatrics, University of Washington, Seattle, WA, United States.; Brotman Baty Institute for Precision Medicine, Seattle, WA, United States.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM UMRS_1112, CRBS, Université de Strasbourg, Strasbourg, France.; Glass I; Department of Pediatrics, University of Washington, Seattle, WA, United States.; Brotman Baty Institute for Precision Medicine, Seattle, WA, United States.; Gleeson JG; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA, USA.; Grunewald O; Laboratoire SeqOIA, Paris, France.; U1172-LilNCog-Lille Neuroscience & Cognition, CHU de Lille, Lille, France.; Laboratoire de Genopathies, CHU Lille, Lille, France.; Gueguen P; Laboratoire SeqOIA, Paris, France.; Service de Génétique, CHRU de Tours, Tours, France.; Université de Tours, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Harbuz R; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Jacquemont ML; Service de Génétique, CHRU de Tours, Tours, France.; Université de Tours, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', FHU Genomeds, CHRU de Tours, Tours, France.; Leventer RJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Marijon P; Laboratoire SeqOIA, Paris, France.; Messaoud O; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA.; Sultan T; Department of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.; Thauvin C; Centre de référence maladies rares, Déficiences Intellectuelles de Causes Rares, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Vincent-Delorme C; Clinique de Génétique, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France.; Consultation de génétique, CH Arras, Arras, France.; Gulec EY; Department of Medical Genetics, Istanbul Medeniyet University Medical School, Istanbul, Turkiye.; Medical Genetics Clinic, Istanbul Goztepe Prof Dr Suleyman Yalcin City Hospital, Istanbul, Turkiye.; Thevenon J; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; GCS AURAGEN, Lyon, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France.; Mendez R; Cardiovascular Medicine, Stanford University, Stanford, CA, USA.; MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Nava C; Laboratoire SeqOIA, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Département de Génétique, Hôpital de la Pitié Salpêtrière, Paris, France.; Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Findlay GM; The Genome Function Laboratory, The Francis Crick Institute, London, UK.

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

Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Xia ZJ; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Sumya FT; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Saad AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan.; Pakistan Science Foundation (PSF), Islamabad, Pakistan.; Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.; Ali Z; Centre for Biotechnology and Microbiology, University of Swat, Swat, Pakistan.; Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Withers MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Lupashin VV; Department of Physiology and Cell Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE