부산대학교 도서관

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

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

Dionysiou M; Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Makri SC; Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Ahlawat S; Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Guryildirim M; Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Groves ML; Department of Pediatric Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Argani P; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.; Pratilas CA; Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo

Brain: A Journal of Neurology. Jan2022, Vol. 145 Issue 1, p208-223. 16p.

Sacoto, Maria J Guillen; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Network, Undiagnosed Diseases; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane

American Journal of Human Genetics, vol 107, iss 2

Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Murthy H; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Zon J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Volpatti J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8EG, UK.; Ellard S; Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK.; Allen HL; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0SL, UK.; Yu EP; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Noche R; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Walker S; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Mahida S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Elitt CM; Fetal-Neonatal Neurology Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Dabaj I; Department of Neonatology and Pediatric Intensive Care-Pediatric Neurology, Rouen University Hospital, and INSERM U1245, Normandie University, UNIROUEN, 76000 Rouen, France.; Meddaugh H; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Marble M; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53792, USA.; Drayson L; Pediatric Specialists of Virginia, Fairfax, VA 22031, USA.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MA 21287, USA.; Chassevent A; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MA 21205, USA.; Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA.; Létard P; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; Bilan F; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France.; Le Guyader G; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France.; Laquerrière A; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie Univeristy, UNIROUEN, INSERM U1245 and Rouen University Hospital, F76000 Rouen, France.; Ramsey K; Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA.; Henderson L; GeneDx, Gaithersburg, MD 20877, USA.; Brady L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada.; Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada.; Bainbridge M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA.; Capri Y; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP) Hôpital Robert Debré, 75019 Paris, France.; Athayde L; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Kok F; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Gurgel-Giannetti J; Department of Pediatrics, Federal University of Minas Gerais School of Medicine, Belo Horizonte - MG - CEP 31270-901, Brazil.; Ramos LLP; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Blaser S; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Dowling JJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G1X8, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Institutes of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.

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

Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Kimball A; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.; Fong SL; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Egense AS; Department of Pediatrics, University of California, Davis, Sacramento, CA, USA.; Hudon C; Department of Medical Genetics, McGill University, Montreal, Quebec, Canada.; Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Ge CJ; Wayne State University School of Medicine, Detroit, MI, USA.; Polan RM; Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Baranano KW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Burd I; Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Baschat AA; Center for Fetal Therapy, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Blakemore KJ; Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Ahn ES; Department of Pediatric Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Jelin EB; Department of Pediatric Surgery, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Jelin AC; Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 101136916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4954 (Electronic) Linking ISSN: 14764954 NLM ISO Abbreviation: J Matern Fetal Neonatal Med Subsets: MEDLINE

Kramer AA; Department of Pathology, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Baltimore, MD 21201, USA.; Bennett DF; Department of Pathology, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Baltimore, MD 21201, USA.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, 200 North Wolfe Street, Suite 2158, Baltimore, MD 21287, USA.; Bannister RA; Department of Pathology, Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 North Greene Street, Baltimore, MD 21201, USA.

Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101667077 Publication Model: eCollection Cited Medium: Internet ISSN: 2405-6502 (Electronic) Linking ISSN: 24056502 NLM ISO Abbreviation: eNeurologicalSci Subsets: PubMed not MEDLINE

Yabumoto M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Kianmahd J; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Singh M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Palafox MF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Wei A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Elliott K; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Goodloe DH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Dean SJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Gooch C; Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA.; Murray BK; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Swartz E; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Towne MC; Ambry Genetics Corp, Aliso Viejo, California, USA.; Nugent K; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Kresge C; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.; Pletcher BA; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Gates R; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.; Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.; Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA.; Clark RD; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA.; Glaser K; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; Fatemi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; Mu W; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; Baranano KW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; Madden JA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Chambers MK; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA.; Phornphutkul C; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA.; Pugh JA; Division of Child Neurology, Department of Neurology, Albany Medical Center, Albany, New York, USA.; Tauber KA; Division of Neonatology, Department of Pediatrics, Albany Medical Center, Bernard and Millie Duker Children's Hospital, Albany, New York, USA.; Azova S; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Smith JR; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Medsker H; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Krakow D; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Obstetrics and Gynecology, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Schweitzer DN; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Arboleda VA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Tunovic S; Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.; Barañano KW; Department of Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Barkovich JA; Department of Radiology and Biomolecular Imaging, University of California, San Francisco, California.; Strober JB; Department of Pediatric Neurology, University of California, San Francisco, California.; Jamal L; Department of Health Policy and Management, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.; Slavotinek AM; Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.

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

Beck DB; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.; Basar MA; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.; Asmar AJ; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.; Thompson JJ; Unit on Genome Structure and Regulation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Oda H; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Uehara DT; Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.; Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.; Talvik I; Department of Neurology and Rehabilitation, Tallinn Children's Hospital, Tallinn, Estonia.; D'Souza P; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Bodurtha J; Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USA.; Mu W; Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21287, USA.; Barañano KW; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Wang R; Division of Metabolic Disorders, CHOC Children's Specialists, Orange, CA 92868, USA.; Department of Pediatrics, University of California Irvine School of Medicine, Orange, CA 92967, USA.; Kempers M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Tamada T; Department of Pediatrics, Hiroshima Prefectural Rehabilitation Center, Hiroshima, Japan.; Nishimura Y; Department of General Perinatology, Hiroshima City Hiroshima Citizens Hospital, Hiroshima, Japan.; Okada S; Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.; Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan.; Dale R; Bioinformatics and Scientific Programming Core, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Mitra A; Bioinformatics and Scientific Programming Core, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Macnamara E; Undiagnosed Diseases Program, The Common Fund, Office of the Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.; Inazawa J; Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.; Walkiewicz M; National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD 20892, USA.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Tifft CJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Undiagnosed Diseases Program, The Common Fund, Office of the Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Aksentijevich I; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Kastner DL; Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Rocha PP; Unit on Genome Structure and Regulation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; National Cancer Institute, NIH, Bethesda, MD 20892, USA.; Werner A; Stem Cell Biochemistry Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA. achim.werner@nih.gov.

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

Mu W; Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; Heller T; Department of Biology, University of Virginia, Charlottesville, Virginia, USA.; Barañano KW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA kwb@jhmi.edu.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

Kodani A; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA. Electronic address: andrew.kodani@childrens.harvard.edu.; Kenny C; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Lai A; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Gonzalez DM; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Stronge E; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Sejourne GM; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Isacco L; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Partlow JN; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; O'Donnell A; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA; Center for Mendelian Genomics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; McWalter K; GeneDX, Gaithersburg, MD, USA.; Byrne AB; Center for Mendelian Genomics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia.; Barkovich AJ; Department of Radiology, University of California, San Francisco, San Francisco, CA, USA.; Yang E; Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Hill RS; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Wiszniewski W; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Fatemi SA; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Baranano KW; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Sahin M; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Vossler DG; Department of Neurology, University of Washington, Seattle, WA, USA.; Yuskaitis CJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA. Electronic address: christopher.walsh@childrens.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE

Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; Cordelli, Duccio M; De Waele, Liesbeth M; Fay, Alexander J; Ferreira, Patrick; Fletcher, Nicholas A; Fryer, Alan E; Goel, Himanshu; Hemingway, Cheryl A; Henneke, Marco; Hughes, Imelda; Jefferson, Rosalind J; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G; Lourenço, Charles M; Malpas, Timothy J; Mehta, Sarju G; Metz, Imke; Naidu, Sakkubai; Õunap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H; Sinnathuray, Kanaga R; Soh, Calvin; Stewart, Helen S; Stone, John; Van Esch, Hilde; Van Mol, Christine E G; Vanderver, Adeline; Wakeling, Emma L; Whitney, Andrea; Pavitt, Graham D; Griffiths-Jones, Sam; Rice, Gillian I; Revy, Patrick; van der Knaap, Marjo S; Livingston, John H; O'Keefe, Raymond T; Crow, Yanick J

Nature Genetics. February, 2017, Vol. 49 Issue 2, p317, 1 p.

Lambe J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Murphy OC; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Mu W; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Sondergaard Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Venkatesan A; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Mu W; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; Tochen L; Department of Neurology, Children's National Health System, Washington, DC, USA.; Bertsch C; Division of Medical Genetics, University of Texas, Houston, Texas, USA.; Singer HS; Departments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.; Barañano KW; Departments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

McNally MA; Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Johnson J; Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Huisman TA; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Poretti A; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Baranano KW; Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Baschat AA; Center for Fetal Therapy, Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Stafstrom CE; Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: cstafst1@jhmi.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

Jenkinson EM; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Rodero MP; Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.; Kasher PR; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Uggenti C; Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.; Oojageer A; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Goosey LC; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Rose Y; Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.; Kershaw CJ; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, Manchester, UK.; Urquhart JE; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Williams SG; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Bhaskar SS; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; O'Sullivan J; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Baerlocher GM; Department of Hematology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Haubitz M; Department of Hematology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Experimental Hematology, Department of Clinical Research, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Aubert G; Repeat Diagnostics, Inc., North Vancouver, British Columbia, Canada.; Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Barnicoat AJ; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy.; Berger A; Department of Neuropediatrics, Klinikum Weiden, Weiden, Germany.; Department of Neuropediatrics, Klinikum Harlaching, Munich, Germany.; Blair EM; Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Brunstrom-Hernandez JE; CP Place, PLLC, Plano, Texas, USA.; Department of Neurology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA.; Buckard JA; Department of Neuropediatrics, Sozialpädiatrisches Zentrum am EVK Düsseldorf, Düsseldorf, Germany.; Cassiman DM; Metabolic Center, Leuven University Hospitals and KU Leuven, Leuven, Belgium.; Caumes R; Department of Neuropediatrics, Hopital Roger Salengro, Lille, France.; Cordelli DM; Paediatric Neurology Unit, S. Orsola-Malpighi Hospital, Bologna, Italy.; De Waele LM; Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven, Belgium.; Fay AJ; Department of Neurology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA.; Ferreira P; Division of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.; Fletcher NA; Department of Neurology, Walton Centre NHS Foundation Trust, Liverpool, UK.; Fryer AE; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Goel H; Hunter Genetics, Hunter New England Local Health District, Waratah, New South Wales, Australia.; School of Medicine and Public Health, University of Newcastle, Callaghan, New South Wales, Australia.; Hemingway CA; Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Henneke M; Department of Pediatrics and Adolescent Medicine, University Medical Center, Georg August University, Göttingen, Germany.; Hughes I; Pediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Jefferson RJ; Dingley Specialist Children's Centre, Royal Berkshire Hospital, Reading, UK.; Kumar R; Department of Paediatric Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.; Lagae L; Department of Development and Regeneration, Paediatric Neurology, University of Leuven, Leuven, Belgium.; Landrieu PG; Department of Paediatric Neurology, CHU Paris-Sud Bicetre, Le Kremlin Bicetre, France.; Lourenço CM; Neurogenetics Division, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Malpas TJ; Department of Paediatrics, Jersey General Hospital, St Helier, UK.; Mehta SG; East Anglian Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK.; Metz I; Department of Neuropathology, University Medical Center, Georg August University, Göttingen, Germany.; Naidu S; Hugo Moser Research Institute, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Neurology and Pediatrics, Baltimore, Maryland, USA.; Õunap K; Department of Genetics, Tartu University Hospital, Tartu, Estonia.; Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Panzer A; Epilepsy Center/Paediatric Neurology, DRK Kliniken Berlin-Westend, Berlin, Germany.; Prabhakar P; Department of Paediatric Neurology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Quaghebeur G; Department of Neuroradiology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Schiffmann R; Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.; Sherr EH; Department of Neurology, University of California at San Francisco, San Francisco, California, USA.; Sinnathuray KR; Department of Paediatrics, Wexham Park Hospital, Slough, UK.; Soh C; Neuroradiology Department, Salford Royal NHS Foundation Trust, Salford, UK.; Stewart HS; Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Stone J; Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh, UK.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.; Van Mol CE; Department of Pediatrics-Neonatology, St. Augustinusziekenhuis, Wilrijk, Belgium.; Vanderver A; Department of Neurology, George Washington University School of Medicine, Children's National Health System, Washington, DC, USA.; Center for Genetic Medicine Research, George Washington University School of Medicine, Children's National Health System, Washington, DC, USA.; Wakeling EL; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.; Whitney A; Department of Child Neurology, University Hospital Southampton NHS Trust, Southampton, UK.; Pavitt GD; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, Manchester, UK.; Griffiths-Jones S; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, Manchester, UK.; Rice GI; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Revy P; Laboratory of Genome Dynamics in the Immune System, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.; van der Knaap MS; Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, the Netherlands.; Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.; Livingston JH; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.; O'Keefe RT; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Molecular and Cellular Function, University of Manchester, Manchester, UK.; Crow YJ; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.; Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Yeshokumar AK; Division of Pediatric Neurology, and ayeshok1@jhmi.edu.; Sun LR; Division of Pediatric Neurology, and.; Klein JL; Division of Pediatric Neurology, and Department of Pediatrics, The Medical University of South Carolina, Charleston, South Carolina.; Baranano KW; Division of Pediatric Neurology, and.; Pardo CA; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; and.

Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

Publisher: Thieme Stratton Country of Publication: United States NLM ID: 8111343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-9021 (Electronic) Linking ISSN: 02718235 NLM ISO Abbreviation: Semin Neurol Subsets: MEDLINE