부산대학교 도서관

Fielder, Sara M; Friederich, Marisa W; Hock, Daniella H; Zhang, Jessie R; Valin, Liana M; Rosenfeld, Jill A; Booth, Kevin T A; Brown, Natasha J; Rius, Rocio; Sharma, Tanavi; Semcesen, Liana N; Worley, Kim C; Burrage, Lindsay C; Treat, Kayla; Samson, Tara; Govert, Sarah; DaCunha, Sara; Yuan, Weimin; Chen, Jian; Lesinski, Jacob; Hoang, Hieu; Morrison, Stephanie A; Ladha, Farah A; Van Hove, Roxanne A; Michel, Cole R; Reisdorph, Richard; Tycksen, Eric; Baldridge, Dustin; Silverman, Gary A; Soler-Alfonso, Claudia; Conboy, Erin; Vetrini, Francesco; Emrick, Lisa; Craigen, William J; Sykes, Stephen M; Stroud, David A; Van Hove, Johan L K; Schedl, Tim; Pak, Stephen C

EMBO Molecular Medicine. :1-24

Kalugotla G; Division of Infectious Diseases, Department of Medicine, Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Marmerstein V; Division of Infectious Diseases, Department of Medicine, Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Schriefer LA; Division of Infectious Diseases, Department of Medicine, Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Wang L; Division of Infectious Diseases, Department of Medicine, Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Morrison SA; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Perez LC; Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Silverman GA; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Schedl T; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Pak SC; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Baldridge MT; Division of Infectious Diseases, Department of Medicine, Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine, St. Louis, Missouri, United States of America.; Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238921 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7374 (Electronic) Linking ISSN: 15537366 NLM ISO Abbreviation: PLoS Pathog Subsets: MEDLINE

Jayakumar, Arumugam ; Cataltepe, Sule ; Kang, Ya’an ; Frederick, Mitchell J ; Mitsudo, Kenji ; Henderson, Ying ; Crawford, Sue E ; Silverman, Gary A ; Clayman, Gary L

In Methods 2004 32(2):177-184

Askew, David J ; Askew, Yuko S ; Kato, Yukari ; Luke, Cliff J ; Pak, Stephen C ; Brömme, Dieter ; Silverman, Gary A

In Genomics 2004 84(1):166-175

Jayakumar, Arumugam ; Kang, Ya’an ; Frederick, Mitchell J ; Pak, Stephen C ; Henderson, Ying ; Holton, Paula R ; Mitsudo, Kenji ; Silverman, Gary A ; EL-Naggar, Adel K ; Brömme, Dieter ; Clayman, Gary L

In Archives of Biochemistry and Biophysics 2003 409(2):367-374

Hoang HD; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, 905 Lasalle Street, Durham, NC 27710, United States.; Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Tedesco MG; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy.; Brohus M; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146 Rome, Italy.; Stregapede F; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146 Rome, Italy.; Rogaia D; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy.; Troiani S; Neonatal Intensive Care Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 1, 06129 Perugia, Italy.; Lesinski J; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Yuan W; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Fielder SM; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Zhang B; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Morrison S; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Regmi S; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Foti MRS; Genetics Unit, Medical Science and Maternal-Infantile Department, Hospital Sant'Anna of Ferrara, Via Fossato di Mortara, 74, 44121 Ferrara, Italy.; Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Silverman GA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Shea P; Institute for Genome Medicine, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, United States.; Dickson P; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Overgaard MT; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.; Jensen HH; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.; Olsen A; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.; Prontera P; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, 905 Lasalle Street, Durham, NC 27710, United States.; Pak SC; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.; Schedl T; Department of Genetics, Washington University in St. Louis School of Medicine, 4523 Clayton Ave St. Louis, MO 63110, United States.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

DaCunha S; Pediatrics, Washington University in St. Louis, St Louis, Missouri, United States.; Silverman GA; Pediatrics, Washington University in St. Louis, St Louis, Missouri, United States.; Schedl T; Genetics, Washington University in St. Louis, St Louis, Missouri, United States.; Pak SC; Pediatrics, Washington University in St. Louis, St Louis, Missouri, United States.; Fielder SM; Pediatrics, Washington University in St. Louis, St Louis, Missouri, United States.; Penny GM; Pediatrics, Washington University in St. Louis, St Louis, Missouri, United States.

Publisher: Caltech Library Country of Publication: United States NLM ID: 101759238 Publication Model: eCollection Cited Medium: Internet ISSN: 2578-9430 (Electronic) Linking ISSN: 25789430 NLM ISO Abbreviation: MicroPubl Biol Subsets: PubMed not MEDLINE

Klinman E; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.; Kwon JS; Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA; Program in Computational and Systems Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.; Dolle RE; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO, USA.; Pak SC; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Silverman GA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Perlmutter DH; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Yoo AS; Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA; Center of Regenerative Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Rodriguez-Aliaga P; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Yuan W; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Franken L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Zajt K; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Hasan D; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Lee TT; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.; Hentschel A; Leibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada.; Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.; Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Zhang X; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.; Carroll R; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.; McClatchey M; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Fry AE; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Wang L; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Giesselmann S; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Hoang H; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Baldridge D; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Silverman GA; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Bertini E; Neuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada.; de Sainte Agathe JM; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Laboratoire de Médecine Génomique Sorbonne Université, LBM SeqOIA, Paris 75014, France.; Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.; Čuturilo G; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.; Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.; van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.; Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA.; Maier A; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Wolking S; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Weber Y; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Meyer S; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Aleman A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560030, India.; Nicolas G; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Goldenberg A; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Guyant L; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Pope K; University of South Florida, College of Public Health, Tampa, FL 33612, USA.; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.; Hehmeyer KN; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.; Quade A; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.; Caumes R; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.; Duerinckx S; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.; Depondt C; Department of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.; Van Paesschen W; Laboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Rieubland C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Poloni C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland.; Arcioni S; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Division of Medical Genetics, Central Institute of Hospitals, Valais Hospital, Sion 1951, Switzerland.; Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.; Jansen AC; Department of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium.; Rosenblum J; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Magg J; Department of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Schulz JB; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Wagner N; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Wiesmann M; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Roos A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department for Pediatric Neurology, University Medicine Essen, Duisburg-Essen University, 45147 Essen, Germany.; Institute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.; Häusler M; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Bremer J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Pak SC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Frydman J; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Conboy E; Indiana University School of Medicine, Indianapolis, IN, USA.; Vetrini F; Indiana University School of Medicine, Indianapolis, IN, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.; Grace AN; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Mitchell B; Baylor College of Medicine in San Antonio, San Antonio, TX, USA.; Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Meeks N; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Van-Gils J; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; de Sainte-Agathe JM; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA.; Weisz-Hubshman M; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA.; Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Harder S; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; Turro E; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Fielder SM; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Friederich MW; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.; Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Zhang JR; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Valin LM; Department of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, MO, 63110, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Booth KTA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, IN, USA.; Brown NJ; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, 3052, Australia.; Rius R; Department of Paediatrics, University of Melbourne, Parkville, Victoria, 3052, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Sharma T; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Semcesen LN; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, IN, USA.; Samson T; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Govert S; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; DaCunha S; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Yuan W; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Chen J; Department of Genetics, Washington University in St Louis School of Medicine, MO, 63110, USA.; Lesinski J; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Hoang H; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Morrison SA; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Ladha FA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Van Hove RA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA.; Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Tycksen E; McDonnell Genome Institute, Genome Technology Access Center, Washington University in St Louis School of Medicine, St. Louis, MO, 63110,USA.; Baldridge D; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Silverman GA; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.; Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, IN, USA.; Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, IN, USA.; Emrick L; Department of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, MO, 63110, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Craigen WJ; Department of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, MO, 63110, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Sykes SM; Department of Pediatrics, Division of Hematology & Oncology, Washington University in St Louis School of Medicine, MO, 63110, USA.; Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Van Hove JLK; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, MO, 63110, USA.; Pak SC; Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, MO, 63110, USA.

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

Fielder, Sara M; Rosenfeld, Jill A; Burrage, Lindsay C; Emrick, Lisa; Lalani, Seema; Attali, Ruben; Bembenek, Joshua N; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Undiagnosed Diseases Network; Schedl, Tim; Pak, Stephen C

Molecular Genetics and Metabolism. 136:65-73

Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Zhang B; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Lindsey A; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Lesinski J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Nonet ML; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America.; Chen J; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Baldridge D; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Silverman GA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Hicks MJ; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America.; Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Pottinger C; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.; Krakow D; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America.; Schedl T; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Pak SC; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.; Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.; Yuan W; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.; Rodriguez-Polanco WR; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA.; Grubbs J; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Zhang B; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.; Graham G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.; Sawyer S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada.; Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.; Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.; Marseille Medical Genetics U1251, Aix Marseille University, Marseille, 13005, France.; Kłosowska A; Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, 80-210, Poland.; Fieg E; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA.; Krier J; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA.; Mallebranche C; Unité d'Onco-Hémato-Immunologie pédiatrique, CHU d'Angers, Angers, 49933, France.; Alban Z; Service de génétique, CHU d'Angers, Angers, 49933, France.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Ritter D; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX, 77030, USA.; Macnamara E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD, 20892, USA.; Sullivan B; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.; Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.; Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA.; Helbig C; The Epilepsy Neurogenetics Initiative, Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Ellis CA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia PA, 19104, USA.; van Eyk C; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia.; Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia.; Farrugia D; Haematology, Mater Dei Hospital, Msida, MSD2090, Malta.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Adès L; Department of Clinical Genetics, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, 2145, Australia.; van den Boogaard MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands.; Fuchs S; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.; Bakker J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.; Duran K; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands.; Dawson ZD; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Lindsey A; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Huang H; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Baldridge D; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Silverman GA; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Grant BD; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA.; Raizen D; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA.; van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands.; Pak SC; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, 24943, Flensburg, Germany.; Schedl T; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; van Hasselt P; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Zerafati-Jahromi G; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.; Oxman E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Hoang HD; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Charng WL; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA.; Kotla T; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Yuan W; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Ishibashi K; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Sebaoui S; Center for Neuroscience Research, Children's National Hospital, Washington, DC, USA.; Luedtke K; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Winrow B; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Center for Computational Genomics Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Manso-Basúz C; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Spataro N; Center for Genomic Medicine, Parc Taulí Hospital University, Parc Taulí Institute of Research and Innovation (I3PT-CERCA), Autonomous University of Barcelona, Sabadell, Spain.; Kannu P; Department of Medical Genetics, Alberta Health Services, Edmonton, AB, Canada.; Athey T; Department of Medical Genetics, Alberta Health Services, Edmonton, AB, Canada.; Peroutka C; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Barnes C; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Anadiotis G; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA.; Magnussen K; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA.; Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Moles-Fernandez A; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Berger S; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Grant CL; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, Irvine, CA, USA.; Arnadottir GA; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Sulem P; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Sulem TS; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Stefansson K; deCODE Genetics/Amgen Inc., Reykjavik, Iceland.; Massey S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ginn N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; D'Gama AM; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Valentine R; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Trowbridge SK; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Tran Y; Department of Neurology, Baylor College of Medicine, Houston, TX, USA.; Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Hall AL; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; McGivern B; GeneDx, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Baldridge D; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Silverman GA; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Dahiya S; Department of Pathology, Washington University in St. Louis, St. Louis, MO, USA.; Turner TN; Department of Genetics, Washington University in St. Louis, St. Louis, MO, USA.; Schedl T; Department of Genetics, Washington University in St. Louis, St. Louis, MO, USA.; Corbin JG; Center for Neuroscience Research, Children's National Hospital, Washington, DC, USA.; Pak SC; Department of Pediatrics, Washington University in St. Louis, St. Louis, MO, USA.; Zohn IE; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA. Electronic address: izohn@childrensnational.org.; Gurnett CA; Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address: gurnettc@wustl.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

Tafaleng EN; Departments of Pediatrics, Surgery and Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Li J; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.; Wang Y; Departments of Pediatrics, Surgery and Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Hidvegi T; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.; Soto-Gutierrez A; Departments of Pediatrics, Surgery and Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Locke AE; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.; Nicholas TJ; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.; Wang YC; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.; Pak S; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.; Cho MH; Channing Laboratories, Harvard Medical School, Boston, Massachusetts, USA.; Silverman EK; Channing Laboratories, Harvard Medical School, Boston, Massachusetts, USA.; Silverman GA; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.; Jin SC; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.; Fox IJ; Departments of Pediatrics, Surgery and Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Perlmutter DH; Departments of Pediatrics, Cell Biology and Physiology, Genetics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.

Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

Markovina, Stephanie; Wang, Songyan; Henke, Lauren E; Luke, Cliff J; Pak, Stephen C; DeWees, Todd; Pfeifer, John D; Schwarz, Julie K; Liu, Weijun; Chen, Shuai; Mutch, David; Wang, Xiaowei; Powell, Matthew A; Siegel, Barry A; Dehdashti, Farrokh; Silverman, Gary A; Grigsby, Perry W

British Journal of Cancer. 1/9/2018, Vol. 118 Issue 1, p72-78. 7p. 2 Charts, 3 Graphs.

Yasumatsu, Ryuji; Nakashima, Torahiko; Azuma, Kaoru; Hirakawa, Naoya; Kuratomi, Yuichiro; Tomita, Kichinobu; Cataltepe, Sule; Silverman, Gary A; Clayman, Gary L; Komiyama, Sohtaro

Cancer Letters. 167(2):205-213

Thakker-Varia, Smita; Elkabes, Stella; Schick, Charles; Silverman, Gary A; Peng, Lang; Sherwood, Ann C; Black, Ira B

Molecular Brain Research. 56(1):99-107

Dawson ZD; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Sundaramoorthi H; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Regmi S; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Zhang B; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Morrison S; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Fielder SM; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Zhang JR; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Hoang H; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Perlmutter DH; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Luke CJ; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.

Publisher: Taylor and Francis Country of Publication: United States NLM ID: 9918383885906676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2769-4127 (Electronic) Linking ISSN: 27694127 NLM ISO Abbreviation: Autophagy Rep Subsets: PubMed not MEDLINE