부산대학교 도서관

Caron, V; Chassaing, N; Ragge, N; Boschann, F; Ngu, AMH; Meloche, E; Chor, S; Lakhani, SA; Ji, WZ; Steiner, L; Marcadier, J; Jansen, PR; Pol, LA; van Hagen, JM; Russi, AS; Le Guyader, G; Nordenskjold, M; Nordgren, A; Anderlid, BM; Plaisancie, J; Stoltenburg, C; Horn, D; Drenckhahn, A; Hamdan, FF; Lefebvre, M; Attie-Bitach, T; Forey, P; Smirnov, V; Ernould, F; Jacquemont, ML; Grotto, S; Alcantud, A; Coret, A; Ferrer-Avargues, R; Srivastava, S; Vincent-Delorme, C; Romoser, S; Safina, N; Saade, D; Lupski, JR; Calame, DG; Genevieve, D; Chatron, N; Schluth-Bolard, C; Myers, KA; Dobyns, WB; Calvas, P; Salmon, C; Holt, R; Elmslie, F; Allaire, M; Prigozhin, DM; Tremblay, A; Michaud, JL

Genetics in medicine : official journal of the American College of Medical Genetics. 25(8):100856

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.

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. Electronic address: Daniel.calame@bcm.edu.; Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA.; Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Herman I; 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; Boys Town National Research Hospital, Boys Town, NE, USA.; Ammouri F; Boys Town National Research Hospital, Boys Town, NE, USA; The University of Kansas Health System, Westwood, KS, USA.; Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.; Efthymiou S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Alavi S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom.; Firoozfar Z; Palindrome, Isfahan, Iran.; Nasab ME; Meybod Genetic Research Center, Yazd, Iran; Yazd Welfare Organization, Yazd, Iran.; Bahreini A; KaryoGen, Isfahan, Iran; Department of Human Genetics, University of Pittsburgh, PA, USA.; Ghasemi M; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.; Goldouzi HR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK.; Begtrup A; GeneDx, Gaithersburg MD 20877 USA.; Elloumi H; GeneDx, Gaithersburg MD 20877 USA.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 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, 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.; Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Isikay S; Gaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA.; Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Oberg KC; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK.; Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK.; Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Boostani R; Department of Neurology Mashhad University of Medical Sciences, Mashhad, Iran.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Zaki M; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Mardi A; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Manzini MC; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA.; 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; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, 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.; Houlden H; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Bujakowska K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Maroofian R; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; 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. Electronic address: jlupski@bcm.edu.; Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore 117456; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore 117456; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117545; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456. Electronic address: bchnnl@nus.edu.sg.

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

Dardas Z; Department of Molecular and Human Genetics, 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, Safat, Kuwait.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; El-Rashidy OF; Department of Pediatrics, Faculty of Medicine Ain Shams University, Cairo, Egypt.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pacific Northwest Research Institute, Seattle, WA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Du H; Department of Molecular and Human Genetics, 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.; 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.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.

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

Banks E; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Francis V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Kharfallah F; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Fonov V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Lévesque M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Han C; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Kulasekaran G; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Tuznik M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Bayati A; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Al-Khater R; Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Argyriou L; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Bahlo M; Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, Australia.; Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran.; Barr E; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Bartik L; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Bassiony M; Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Budetta M; Paediatric and Child Neurology Unit, Cava de' Tirreni AOU S. Giovanni di Dio e Ruggiero d'Aragona Hospital, Salerno, Italy.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Calame DG; 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.; Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Cushing D; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.; Efthymiou S; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK.; Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt.; El Said HG; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt.; Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.; Gill HK; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada.; 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.; Gogoll L; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Goh ES; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hauser S; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany.; Hoffman TL; Department of Regional Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.; Hogue JS; Madigan Army Medical Center, Tacoma, WA, USA.; Hosokawa A; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Houlden H; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Huynh S; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Kaulfuß S; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.; Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Lee H; 3billion Inc, Seoul, South Korea.; Lupski JR; 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.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Marco EJ; Cortica Healthcare, San Rafael, CA, USA.; McWalter K; GeneDx, Gaithersburg, MD, USA.; Minassian A; Centre for Applied Genomics, Genetics, and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada.; Minassian BA; Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA.; Murphy D; Department of Clinical and Movement Neurosciences, University College London (UCL) Queen Square Institute of Neurology, London, UK.; Neira-Fresneda J; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Oehl-Jaschkowitz B; BIOSCIENTIA-MVZ-Labor-Saar-Practice of Human Genetics, Homburg (Saar), Germany.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Person R; GeneDx, Gaithersburg, MD, USA.; Pehlivan D; 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.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Saunders C; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Center for Pediatric Genomic Medicine Children's Mercy, Kansas City, MO, USA.; Schoels L; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Tos T; Department of Medical Genetics, University of Health Sciences, Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Ankara, Turkey.; Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Zhou D; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, QC, Canada.; Durcan TM; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Gan-Or Z; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Avoli M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Alves C; Division of Neuroradiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Maroofian R; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK.; Rudko DA; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; McConnell Brain Imaging Centre, the Neuro, Montréal, QC, Canada.; Department of Biomedical Engineering, McGill University, Montréal, QC, Canada.; McPherson PS; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada. peter.mcpherson@mcgill.ca.

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

Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada.; Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Möller S; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Wendlandt M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Ruffier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Toutain B; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Poirier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Kritzer A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA, USA.; Crunk A; GeneDx, Gaithersburg, MD 20877, USA.; diMonda J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.; Vengoechea J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.; Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Kleinendorst L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; van Haelst MM; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands.; Zuurbier L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands.; Sulem T; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Katrínardóttir H; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Friðriksdóttir R; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Sulem P; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Stefansson K; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Jonsdottir B; Childrens Hospital Hringurinn, National University Hospital of Iceland, Reykjavik, Iceland.; Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Naveh N; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Isikay S; Division of Pediatric Neurology, Department of Pediatrics, Gaziantep Islam, Science and Technology University Faculty of Medicine, Gaziantep, Türkiye.; 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.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Nizon M; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; McWalter K; GeneDx, Gaithersburg, MD 20877, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, 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.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. 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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

Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.; Zheng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Tan KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Bove KE; Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Quintanilla N; Department of Pathology and Immunology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.; Sag SO; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Turkey.; Temel SG; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Turkey.; LeDuc CA; Department of Pediatrics, Columbia University, New York, NY.; McPartland AJ; Department of Pediatrics, Columbia University, New York, NY.; Pereira EM; Department of Pediatrics, Columbia University, New York, NY.; Shen Y; Department of Systems Biology, Columbia University Medical Center, New York, NY.; Hagen J; Department of Systems Biology, Columbia University Medical Center, New York, NY.; Thomas CP; Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA.; Nguyen Galván NT; Division of Abdominal Transplantation, Baylor College of Medicine, Houston, TX.; Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.; Hertel PM; Texas Children's Hospital, Houston, TX; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: wendy.chung@childrens.harvard.edu.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX. Electronic address: hbellen@bcm.edu.

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

Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA; Brotman-Baty Institute for Precision Medicine, Seattle, WA. Electronic address: jxchong@uw.edu.; Berger SI; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC.; Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Smith E; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA.; Xiao C; Department of Neurology, University of California Irvine, Orange, CA.; Calame DG; Department of Pediatrics, Division of Pediatric Neurology and Developmental Neurosciences, Baylor College of Medicine, Houston, TX.; Hawley MH; Clinical Operations, Invitae, Iselin, NJ.; Rivera-Munoz EA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; DiTroia S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA; Brotman-Baty Institute for Precision Medicine, Seattle, WA; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.

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

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. daniel.calame@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. daniel.calame@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. daniel.calame@bcm.edu.

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

Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.; 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.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Liebmann L; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, United Kingdom.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Huebner AK; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany.; Calame DG; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Misra VK; Division of Genetic, Genomic & Metabolic Disorders, Discipline of Pediatrics, College of Medicine, Central Michigan University, Mount Pleasant, MI.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Heydaran S; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad, Iran.; Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Schnur RE; GeneDx, Gaithersburg, MD.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.; Setzke J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Emrick L; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Hellmich UA; Friedrich Schiller University Jena, Faculty of Chemistry and Earth Sciences, Institute of Organic Chemistry and Macromolecular Chemistry, Jena, Germany; Center for Biomolecular Magnetic Resonance (BMRZ), Goethe University, Frankfurt, Germany; Cluster of Excellence Balance of the Microverse, Friedrich Schiller University Jena, Jena, Germany.; Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Lupski JR; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller Universität, Am Klinikum 1, Jena, Germany; Center for Rare Diseases, Jena University Hospital, Jena, Germany.

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