부산대학교 도서관

Kozak, Igor; Mochida, Ganeshwaran H; Lin, Doris DM; Ali, Syed M; Bosley, Thomas M

Eye & Brain; Oct2024, Vol. 16, p55-63, 9p

Lai A; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA.; Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA.; Akula SK; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA.; Amrom D; Neurogenetics Unit, Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.; Andermann E; Neurogenetics Unit and Epilepsy Research Group, Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal, Quebec, Canada.; Bergin A; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Caraballo R; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P Garrahan', Buenos Aires, Argentina.; Chen AY; Division of Rheumatology, NYU Langone Health, New York, NY.; Gaitanis J; Department of Neurology and Pediatrics, Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, RI.; Mochida GH; Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA.; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA.; Gotoff JM; Department of Pediatrics and Neurology, Geisinger Health System, Danville, PA.; Kuchukhidze G; Department of Neurology, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University of Salzburg, Salzburg, Austria.; Neuroscience Institute, Centre for Cognitive Neuroscience, Christian Doppler University Hospital, Salzburg, Austria.; Marom D; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center and School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; ElAchkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Regev M; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hasomer, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Rodan LH; Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA.; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA.; Olson H; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; Zhang B; Department of Neurology, Harvard Medical School, Boston, MA.; Poduri A; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.; National Institute of Neurological Disorders and Stroke, Bethesda, MD.; Shao DD; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA.; Broad Institute of MIT and Harvard, Cambridge, MA.; Walsh CA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA.; Yang E; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

de Gusmao CM; Department of Pediatric Neurology, University of Sao Paulo, Sao Paulo, Brazil.; Department of Neurology, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.; Pons R; First Department of Pediatrics, Aghia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Mochida GH; Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Silveira-Moriyama L; Department of Neurology, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.; Teaching Unit, Institute of Neurology, UCL Queen Square, London, United Kingdom.; Kok F; Department of Pediatric Neurology, University of Sao Paulo, Sao Paulo, Brazil.

Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE; In Process

Ghosh S; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Singh J; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Damseh NS; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; De Pace R; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Golding AE; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Jarnik M; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Thakran P; National Heart Lung and Blood Institute, National Institute of Health, Bethesda, MD 20892, USA.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Heitz J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; AlAbdi L; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Abdulwahab F; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Sumayli S; Department of Medicine, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.; Alqahtani M; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Cheema HA; Department of Paediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad 38000, Pakistan.; Kim J; Division of Medical Genetics, 3billion, Inc, Seoul 06160, South Korea.; Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.; Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Mochida GH; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston 02115, MA, USA.; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.; Zifarelli G; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Barkhordari E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Ghayoor Karimiani E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Abu-Libdeh B; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Edvardson S; Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Patten SA; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Departement de Neurosciences, Université de Montréal, QC H3C 3J7, Canada.; Bonifacino JS; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, 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

Mochida, Ganeshwaran H; Ganesh, Vijay S; de Michelena, Maria I; Dias, Hugo; Atabay, Kutay D; Kathrein, Katie L; Huang, Hsuan-Ting; Hill, R Sean; Felie, Jillian M; Rakiec, Daniel; Gleason, Danielle; Hill, Anthony D; Malik, Athar N; Barry, Brenda J; Partlow, Jennifer N; Tan, Wen-Hann; Glader, Laurie J; Barkovich, A James; Dobyns, William B; Zon, Leonard I

Nature Genetics. Nov2012, Vol. 44 Issue 11, p1260-1264. 5p. 1 Color Photograph, 3 Graphs.

Akula SK; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts.; Chen AY; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Division of Rheumatology, Hospital for Special Surgery, New York, New York.; Neil JE; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Shao DD; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Mo A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Hylton NK; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts.; DiTroia S; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Ganesh VS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Smith RS; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.; O'Kane K; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Yeh RC; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Marciano JH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Kirkham S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Kenny CJ; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Song JHT; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Al Saffar M; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Department of Genetics and Genomics, United Arab Emirates University, United Arab Emirates.; Millan F; GeneDx, Gaithersburg, Maryland.; Harris DJ; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Murphy AV; Division of Medical Genetics, Our Lady of the Lake Health System, Baton Rouge, Louisiana.; Klemp KC; Division of Medical Genetics, Department of Pediatrics Saint Louis University School of Medicine, St Louis, Missouri.; Braddock SR; Division of Medical Genetics, Department of Pediatrics Saint Louis University School of Medicine, St Louis, Missouri.; Brand H; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Wong I; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Talkowski ME; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Lai A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Hill RS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Mochida GH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Doan RN; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Barkovich AJ; Benioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery, University of California, San Francisco, San Francisco.; Yang E; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts.; Amrom D; Neurogenetics Unit, Montreal Neurological Hospital and Institute, Montreal, Quebec, Canada.; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Department of Neurology, Queen Fabiola Children's University Hospital, Brussels, Belgium.; Pediatric Neurology Unit, Centre Hospitalier de Luxembourg, Grand-Duchy of Luxembourg.; Andermann E; Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec, Canada.; Pediatric Neurology Unit, Centre Hospitalier de Luxembourg, Grand-Duchy of Luxembourg.; Epilepsy Research Group, Montreal Neurological Hospital and Institute, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Poduri A; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Walsh CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, and Allen Discovery Center for Human Brain Evolution, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Harvard-MIT MD/PhD Program, Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Genomic Medicine, Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Ahmed, Mustafa Y; Chioza, Barry A; Rajab, Anna; Schmitz-Abe, Klaus; Al-Khayat, Aisha; Al-Turki, Saeed; Baple, Emma L; Patton, Michael A; Al-Memar, Ali Y; Hurles, Matthew E; Partlow, Jennifer N; Hill, R Sean; Evrony, Gilad D; Servattalab, Sarah; Markianos, Kyriacos; Walsh, Christopher A; Crosby, Andrew H; Mochida, Ganeshwaran H

Neurology. 4/28/2015, Vol. 84 Issue 17, p1745-1750. 6p.

MOCHIDA, GANESHWARAN H; CHUGANI, HARRY

Developmental Medicine & Child Neurology. May 01, 2014 56(5):412-412

Sahai, Inderneel; Mochida, Ganeshwaran H; Grabowski, Eric F; Caruso, Paul A

New England Journal of Medicine. 8/28/2014, Vol. 371 Issue 9, p847-858. 12p.

Hills, L Benjamin; Masri, Amira; Konno, Kotaro; Kakegawa, Wataru; Lam, Anh-Thu N; Lim-Melia, Elizabeth; Chandy, Nandini; Hill, R Sean; Partlow, Jennifer N; Al-Saffar, Muna; Nasir, Ramzi; Stoler, Joan M; Barkovich, A James; Watanabe, Masahiko; Yuzaki, Michisuke; Mochida, Ganeshwaran H

Neurology. 10/15/2013, Vol. 81 Issue 16, p1378-1386. 9p.

Nakayama, Tojo; Al-Maawali, Almundher; El-Quessny, Malak; Rajab, Anna; Khalil, Samir; Stoler, Joan M; Tan, Wen-Hann; Nasir, Ramzi; Schmitz-Abe, Klaus; Hill, R Sean; Partlow, Jennifer N; Al-Saffar, Muna; Servattalab, Sarah; LaCoursiere, Christopher M; Tambunan, Dimira E; Coulter, Michael E; Elhosary, Princess C; Gorski, Grzegorz; Barkovich, A James; Markianos, Kyriacos; Poduri, Annapurna; Mochida, Ganeshwaran H

American Journal of Human Genetics, vol 96, iss 5

Fujimura K; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics and The Manton Center for Orphan Disease, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.; Department of Pediatrics, Shin-Yurigaoka General Hospital, Kanagawa, Japan.; Guise AJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Nakayama T; Division of Genetics and Genomics and The Manton Center for Orphan Disease, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Schlaffner CN; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Meziani A; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Kumar M; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Cheng L; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Vaughan DJ; Division of Genetics and Genomics and The Manton Center for Orphan Disease, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Kodani A; Center for Pediatric Neurological Disease Research and Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Van Haren S; Precision Vaccines Program, Division of Infectious Diseases, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Parker K; SimulTOF Systems, Marlborough, MA, USA.; Levy O; Precision Vaccines Program, Division of Infectious Diseases, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.; Durbin AF; Department of Microbiology, Harvard Medical School, Boston, MA, USA.; Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA, USA.; Bosch I; Department of Microbiology, Harvard Medical School, Boston, MA, USA.; Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA, USA.; Gehrke L; Department of Microbiology, Harvard Medical School, Boston, MA, USA.; Institute for Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA, USA.; Steen H; Precision Vaccines Program, Division of Infectious Diseases, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Mochida GH; Division of Genetics and Genomics and The Manton Center for Orphan Disease, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Steen JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

Tepe B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.; Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Weisz Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.; Schultz-Rogers L; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.; Granadillo De Luque JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA.; Cogne B; Laboratory of Molecular Genetics, CHU de Nantes, Nantes, France.; Gilbert-Dussardier B; Department of Medical Genetics, CHU de Poitiers, Poitiers, France.; Le Guillou X; Department of Medical Genetics, CHU de Poitiers, Poitiers, France.; Wagner EJ; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester School of Medicine, Rochester, NY 14642, USA.; Pais LS; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Mochida GH; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Walsh CA; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Magal N; The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Drasinover V; The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Shohat M; Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Medical Genetics Institute of Maccabi HMO, Rechovot, Israel.; Schwab T; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Schmitz C; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Clark K; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Fine A; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Lanpher B; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Blanc P; APHP, Département de génétique, Sorbonne Université, GRC n°19, ConCer-LD, Centre de Référence déficiences intellectuelles de causes rares, Hôpital Armand Trousseau, 75012 Paris, France.; Burglen L; APHP, Département de génétique, Sorbonne Université, GRC n°19, ConCer-LD, Centre de Référence déficiences intellectuelles de causes rares, Hôpital Armand Trousseau, 75012 Paris, France.; Afenjar A; APHP. SU, Centre de Référence Malformations et maladies congénitales du cervelet, département de génétique et embryologie médicale, Hôpital Trousseau, 75012 Paris, France.; Steel D; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.; Prabhakar P; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.; Gößwein S; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.; Di Donato N; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.; Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@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

Daly T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Roberts A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Yang E; Department of Radiology, Boston Children's Hospital, Boston, MA.; Mochida GH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Broad Institute of Harvard University and MIT, Cambridge, Massachusetts.

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

Hu, Wen F; Pomp, Oz; Ben-Omran, Tawfeg; Kodani, Andrew; Henke, Katrin; Mochida, Ganeshwaran H; Yu, Timothy W; Woodworth, Mollie B; Bonnard, Carine; Raj, Grace Selva; Tan, Thong Teck; Hamamy, Hanan; Masri, Amira; Shboul, Mohammad; Saffar, Muna Al; Partlow, Jennifer N; Al-Dosari, Mohammed; Alazami, Anas; Alowain, Mohammed; Alkuraya, Fowzan S; Reiter, Jeremy F; Harris, Matthew P; Reversade, Bruno; Walsh, Christopher A

Neuron, vol 84, iss 6

Samocha, Kaitlin; Ercument Cicek, A; Liu, Li; Klei, Lambertus; Kosmicki, Jack; Biscaldi, Monica; Brownfeld, Jessica M; Cai, Jinlu; Campbell, Nicholas G; Crawford, Emily L; Dawson, Geraldine; Duketis, Eftichia; Fernandez, Bridget A; Geller, Evan; Guter, Stephen J; Jimenez Gonzalez, Patricia; Kilpinen, Helena; Klauck, Sabine M; Kolevzon, Alexander; Lei, Jing; Lehtimäki, Terho; Lin, Chiao-Feng; Marshall, Christian R; McInnes, Alison L; Puura, Kaija; Rajagopalan, Deepthi; Reichenberg, Abraham; Sachse, Michael; Schulte-Rüther, Martin; Stevens, Christine; Valladares, Otto; Voran, Annette; Jeremy Willsey, A; Schellenberg, Gerard D; Sklar, Pamela; Akawi, Nadia; Al-Turki, Saeed; Ambridge, Kirsty; Barrett, Daniel; Bayzetinova, Tanya; Carter, Nigel; Clayton, Stephen; Coomber, Eve; Firth, Helen; Fitzgerald, Tomas; FitzPatrick, David; Gerety, Sebastian; Gribble, Susan; Hurles, Matthew; Jones, Philip; Jones, Wendy; King, Daniel; Krishnappa, Netravathi; Mason, Laura; McRae, Jeremy; Michael, Parker; Middleton, Anna; Miller, Ray; Morley, Katherine; Parthiban, Vijaya; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Tivery, Adrian; van Kogelenberg, Margriet; Wright, Caroline; Adli, Mazhar; Al-Awadi, Sadika; Al-Gazali, Lihadh; Alloub, Zeinab I; Al-Saad, Samira; Al-Saffar, Muna; Ataman, Bulent; Balkhy, Soher; Barkovich, A James; Barry, Brenda J; Bastaki, Laila; Bauman, Margaret; Ben-Omran, Tawfeg; Braverman, Nancy E; Chang, Bernard S; Chaudhry, Haroon R; Coulter, Michael; D'Gama, Alissa M; Daoud, Azhar; Eapen, Valsamma; Felie, Jillian M; Gabriel, Stacey B; Gascon, Generoso G; Greenberg, Micheal E; Hanson, Ellen; Harmin, David A; Hashmi, Asif; Herguner, Sabri; Hill, R Sean; Hisama, Fuki M; Jiralerspong, Sarn; Joseph, Robert M; Khalil, Samir; Khuri-Bulos, Najwa; Kwaja, Omar; Kwan, Benjamin Y; LeClair, Elaine; Lim, Elaine T; Markianos, Kyriakos; Martin, Madelena; Masri, Amira; Meyer, Brian; Mochida, Ganeshwaran H; Mukaddes, Nahit M; Nasir, Ramzi H; Niaz, Saima; Okamura-Ikeda, Kazuko; Oner, Ozgur; Partlow, Jennifer N; Poduri, Annapurna; Rajab, Anna; Rappaport, Leonard; Rodriguez, Jacqueline; Schmitz-Abe, Klaus; Shen, Yiping; Stevens, Christine R; Stoler, Joan M; Sunu, Christine M; Tan, Wen-Hann; Taniguchi, Hisaaki; Teebi, Ahmad; Ware, Janice; Wu, Bai-Lin; Yoo, Seung-Yun; Anney, Richard; Ayub, Mohammad; Bailey, Anthony; Baird, Gillian; Barrett, Jeff; Blackwood, Douglas; Bolton, Patrick; Breen, Gerome; Collier, David; Cormican, Paul; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Danecek, Petr; Durbin, Richard; Gallagher, Louise; Green, Jonathan; Gurling, Hugh; Holt, Richard; Joyce, Chris; LeCouteur, Ann; Lee, Irene; Lönnqvist, Jouko; McCarthy, Shane; McGuffin, Peter; McIntosh, Andrew; McQuillin, Andrew; Merikangas, Alison; Monaco, Anthony; Muddyman, Dawn; O'Donovan, Michael; Owen, Michael; Palotie, Aarno; Parr, Jeremy; Paunio, Tiina; Pietilainen, Olli; Rehnström, Karola; Skuse, David; Stalker, Jim; St Clair, David; Suvisaari, Jaana; Williams, Hywel; Aleksic, Branko; Bailey-Wilson, Joan; Betancur, Catalina; Bilder, Deborah; Boerwinkle, Eric; Brudno, Michael; Burbach, Peter; Buxbaum, Joseph; Camp, Nicola; Carracedo, Angel; Chahrour, Maria; Chiocchetti, Andreas; Cicek, Ercument; Cook, Ed; Coon, Hilary; Coppola, Giovanni; Cutler, David; Daly, Mark; De Rubeis, Silvia; dePristo, Mark; Devlin, Bernie; Doan, Ryan; Eichler, Evan; Felsenfeld, Adam; Freitag, Christine; Fromer, Menachem; Fu, Shih-Chen; Gabriels, Robin; Geschwind, Dan; Gibbs, Richard; Gill, Michael; Goldberg, Arthur P; Haines, Jonathan; Hakonarson, Hakon; Hansen, Nancy; He, Xin; Hill, Sean; Hultman, Christina; Ionita-Laza, Iuliana; Jugessur, Anil; Justice, Cristina; Kaplan, Desmond; Kim, Yoonhee; Knudsen, Gun Peggy; Koeleman, Bobby; Kou, Yan; Krumm, Niklas; Lehner, Thomas; Leppa, Virpi; Lese Martin, Christa; Lowe, Jennifer; Ma'ayan, Avi; Magnus, Per; Markianos, Kyriacos; Minshew, Nancy; Morris, Derek; Morrow, Eric; Mulle, Jennifer; Mullikin, Jim; Neale, Benjamin; Ozaki, Norio; Parellada, Mara; Perez, Laura; Pericak-Vance, Margaret; Porter, Forbes D; Poultney, Chris; Purcell, Shaun; Reichenberg, Avi; Robinson, Elise; Roeder, Kathryn; Ruzzo, Elizabeth; Sabo, Aniko; Sanders, Stephan; Santangelo, Susan L; Schafer, Chad; Schellenberg, Gerry; Scherer, Stephen; Shendure, Jay; Siegel, Matthew; Simpson, Claire; Singh, Tarjinder; State, Matthew; Stoltenberg, Camilla; Surén, Pål; Sutcliffe, James; Szatmari, Peter; Tammimies, Kristiina; Tierney, Elaine; Turner, Tychele; Verdi, Mary; Vorstman, Jacob; Walker, Susan; Walsh, Christopher; Wang, Li-San; Wei, Liping; Weiss, Lauren; Wigler, Michael; Willsley, Jeremy; Wink, Logan; Yousaf, Afsheen; Yu, Tim; Yuen, Ryan; Zwick, Michael

Nature
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Journal of Pediatrics. Jul2020, Vol. 222, p15-16. 2p.

Manzini, M Chiara; Rajab, Anna; Maynard, Thomas M; Mochida, Ganeshwaran H; Tan, Wen-Hann; Nasir, Ramzi; Hill, R Sean; Gleason, Danielle; Al Saffar, Muna; Partlow, Jennifer N; Barry, Brenda J; Vernon, Mike; LaMantia, Anthony-Samuel; Walsh, Christopher A

Ann Neurol

Khalil R; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas.; Department of Biotechnology and Genetic Engineering, University of Philadelphia, Amman, Jordan.; Kenny C; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Hill RS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Mochida GH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.; Nasir R; Royal Free London NHS Foundation Trust, London, United Kingdom.; Partlow JN; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Barry BJ; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Al-Saffar M; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Egan C; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Stevens CR; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts.; Gabriel SB; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts.; Barkovich AJ; Benioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery, University of California San Francisco, San Francisco, California.; Ellison JW; The Permanente Medical Group, San Francisco, California.; Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Walsh CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.; Chahrour MH; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas.; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas.; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, Texas.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

Kikuti M; Fundação Oswaldo Cruz, Salvador, Brazil.; Universidade Federal da Bahia, Salvador, Brazil.; Cardoso CW; Secretaria Municipal de Saúde de Salvador, Salvador, Brazil.; Prates APB; Secretaria Municipal de Saúde de Salvador, Salvador, Brazil.; Paploski IAD; Fundação Oswaldo Cruz, Salvador, Brazil.; Universidade Federal da Bahia, Salvador, Brazil.; Kitron U; Fundação Oswaldo Cruz, Salvador, Brazil.; Emory University, Atlanta, United States.; Reis MG; Fundação Oswaldo Cruz, Salvador, Brazil.; Universidade Federal da Bahia, Salvador, Brazil.; Mochida GH; Boston Children's Hospital, Boston, United States.; Massachusetts General Hospital, Boston, United States.; Harvard Medical School, Boston, United States.; Ribeiro GS; Fundação Oswaldo Cruz, Salvador, Brazil.; Universidade Federal da Bahia, Salvador, Brazil.

Publisher: European Centre for Disease Prevention and Control (ECDC) Country of Publication: Sweden NLM ID: 100887452 Publication Model: Print Cited Medium: Internet ISSN: 1560-7917 (Electronic) Linking ISSN: 1025496X NLM ISO Abbreviation: Euro Surveill Subsets: MEDLINE