부산대학교 도서관

D'Gama, Alissa M ; Mulhern, Sarah ; Sheidley, Beth R ; Boodhoo, Fadil ; Buts, Sarah ; Chandler, Natalie J ; Cobb, Joanna ; Curtis, Meredith ; Higginbotham, Edward J ; Holland, Jonathon ; Khan, Tayyaba ; Koh, Julia ; Liang, Nicole S Y ; McRae, Lyndsey ; Nesbitt, Sarah E ; Oby, Brandon T ; Paternoster, Ben ; Patton, Alistair ; Rose, Graham ; Scotchman, Elizabeth ; Valentine, Rozalia ; Wiltrout, Kimberly N ; Hayeems, Robin Z ; Jain, Puneet ; Lunke, Sebastian ; Marshall, Christian R ; Rockowitz, Shira ; Sebire, Neil J ; Stark, Zornitza ; White, Susan M ; Chitty, Lyn S ; Cross, J Helen ; Scheffer, Ingrid E ; Chau, Vann ; Costain, Gregory ; Poduri, Annapurna ; Howell, Katherine B ; McTague, Amy

In The Lancet Neurology September 2023 22(9):812-825

D'Gama AM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA.; Department of Pediatrics, Harvard Medical School, Boston, MA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA.; Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA.; Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Koh HY; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX.; Davis M; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Koh J; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Oby BT; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Urzua CI; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Sheidley BR; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Rockowitz S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA.; Department of Neurology, Harvard Medical School, Boston, MA.

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

Sheidley BR; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Malinowski J; Write Inscite, South Salem, New York, USA.; Bergner AL; Department of Genetics and Development, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Bier L; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Gloss DS; Department of Neurology, Charleston Area Medical Center, Charleston, West Virginia, USA.; Mu W; Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Mulhern MM; Department of Pathology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Department of Neurology, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.; Partack EJ; Genomics Services, Quest Diagnostics, Marlborough, Massachusetts, USA.; Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, 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

Brunklaus A; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.; Du J; Cologne Center for Genomics, University of Cologne, University Hospital Cologne, Cologne, Germany.; Steckler F; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.; Ghanty II; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.; Johannesen KM; Deparment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Fenger CD; Deparment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark.; Schorge S; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.; School of Pharmacy, University College London, London, UK.; Baez-Nieto D; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Wang HR; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Allen A; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Pan JQ; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany.; Heyne H; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.; Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; School of Medicine, University of Glasgow, Glasgow, UK.; Sanders S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California.; Sheidley BR; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Craiu D; Carol Davila University of Medicine, Department of Clinical Neurosciences, Pediatric Neurology Discipline, Bucharest, Romania.; Alexandru Obregia Hospital, Pediatric Neurology Clinic, Bucharest, Romania.; Olson HE; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Weckhuysen S; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.; DeJonge P; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Department of Neuropediatrics, University of Kiel, Kiel, Germany.; Van Esch H; Department of Human Genetics and Center for Human Genetics, Laboratory for Genetics of Cognition, University Hospitals Leuven, Leuven, Belgium.; Busa T; Genetics Department, Timone Enfants University Hospital Center, Public Assistance-Marseille Hospitals, Marseille, France.; Milh M; Medical Genetics and Functional Genomics, National Institute of Health and Medical Research, Mixed Unit of Research S910, Aix-Marseille University, Marseille, France.; Hematology Laboratory, Le Mans Hospital Center, Le Mans, France.; Isidor B; Medical Genetics Department, Nantes University Hospital Center, Nantes, France.; Depienne C; Institute of Human Genetics, Essen University Hospital, Essen, Germany.; Brain and Spinal Cord Institute, National Institute of Health and Medical Research, Unit 1127, National Center for Scientific Research, Mixed Unit of Research 7225, Sorbonne Universities, Pierre and Marie Curie University, Mixed Unit of Research S 1127, Brain & Spine Institute, Paris, France.; Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Campbell AJ; School of Pharmacy, University College London, London, UK.; Dimidschstein J; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Møller RS; Deparment of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Lal D; Cologne Center for Genomics, University of Cologne, University Hospital Cologne, Cologne, Germany.; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.

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

Haviland I; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Daniels CI; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Greene CA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Drew J; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Boston University Clinical Investigation Master's Program, Boston, Massachusetts.; Love-Nichols JA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Department of Genetics, Seattle Children's Hospital, Seattle, Washington.; Swanson LC; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Smith L; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Nie DA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Departments of Pediatrics, Neurology and Neurosurgery, Warren Alpert Medical School of Brown University, Providence, Rhode Island; Division of Pediatric Neurology and the Children's Neurodevelopment Center (CNDC), Hasbro Children's Hospital, Providence, Rhode Island.; Benke T; Departments of Pediatrics, Neurology, Pharmacology, and Otolaryngology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado.; Sheidley BR; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Zhang B; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Olson HE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address: Heather.Olson@childrens.harvard.edu.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Olson, Heather; Shen, Yiping; Avallone, Jennifer; Sheidley, Beth R; Pinsky, Rebecca; Bergin, Ann M; Berry, Gerard T; Duffy, Frank H; Eksioglu, Yaman; Harris, David J; Hisama, Fuki M; Ho, Eugenia; Irons, Mira; Jacobsen, Christina M; James, Philip; Kothare, Sanjeev; Khwaja, Omar; Lipton, Jonathan; Loddenkemper, Tobias; Markowitz, Jennifer; et al

Annals of Neurology (ANN NEUROL), Jun2014; 75(6): 943-958. (16p)

Olson HE; Jean-Marçais N; Yang E; Heron D; Tatton-Brown K; van der Zwaag PA; Bijlsma EK; Krock BL; Backer E; Kamsteeg EJ; Sinnema M; Reijnders MRF; Bearden D; Begtrup A; Telegrafi A; Lunsing RJ; Burglen L; Lesca G; Cho MT; Smith LA; Sheidley BR; El Achkar CM; Pearl PL; Poduri A; Skraban CM; Tarpinian J; Nesbitt AI; Fransen van de Putte DE; Ruivenkamp CAL; Rump P; Chatron N; Sabatier I; De Bellescize J; Guibaud L; Sweetser DA; Waxler JL; Wierenga KJ; Donadieu J; Narayanan V; Ramsey KM; Nava C; Rivière JB; Vitobello A; Mau-Them FT; Philippe C; Bruel AL; Duffourd Y; Thomas L; Lelieveld SH; Schuurs-Hoeijmakers J; Brunner HG; Keren B; Thevenon J; Faivre L; Thomas G; Thauvin-Robinet C

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE