부산대학교 도서관

Cheng YB; Jin YL; Unverzagt FW; Su LQ; Yang L; Ma F; Hake AM; Kettler C; Chen C; Liu J; Bian JC; Li P; Murrell JR; Hendrie HC; Gao S

Clinical Interventions in Aging, Vol Volume 9, Pp 1823-1829 (2014)

Schweighauser M; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors contributed equally.; Shi Y; MRC Laboratory of Molecular Biology, Cambridge, UK.; Department of Pathology of the First Affiliated Hospital and School of Brain Science, Zhejiang University, Hangzhou, China.; These authors contributed equally.; Murzin AG; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors contributed equally.; Garringer HJ; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA.; Vidal R; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA.; Murrell JR; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, USA.; Erro ME; Department of Neurology, Hospital Universitario de Navarra, Brain Bank NavarraBiomed, Pamplona, Spain.; Seelaar H; Department of Neurology, Erasmus University, Rotterdam, The Netherlands.; Ferrer I; Department of Pathology and Experimental Therapeutics, University of Barcelona, Spain.; van Swieten JC; Department of Neurology, Erasmus University, Rotterdam, The Netherlands.; Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA.; Scheres SHW; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors jointly supervised the work.; Goedert M; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors jointly supervised the work.

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

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

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

Qi C; MRC Laboratory of Molecular Biology, Cambridge, UK.; Lövestam S; MRC Laboratory of Molecular Biology, Cambridge, UK.; Murzin AG; MRC Laboratory of Molecular Biology, Cambridge, UK.; Peak-Chew S; MRC Laboratory of Molecular Biology, Cambridge, UK.; Franco C; MRC Laboratory of Molecular Biology, Cambridge, UK.; Bogdani M; Departments of Neurology and Pathology, University of Washington, Seattle, USA.; Veterans Administration Puget Sound Health Care System, Seattle, USA.; Latimer C; Departments of Neurology and Pathology, University of Washington, Seattle, USA.; Veterans Administration Puget Sound Health Care System, Seattle, USA.; Murrell JR; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, USA.; Cullinane PW; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College, London UK.; Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College, London, UK.; Jaunmuktane Z; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College, London UK.; Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College, London, UK.; Bird TD; Departments of Neurology and Pathology, University of Washington, Seattle, USA.; Veterans Administration Puget Sound Health Care System, Seattle, USA.; Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA.; Scheres SHW; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors jointly supervised this work: Sjors H.W. Scheres, Michel Goedert.; Goedert M; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors jointly supervised this work: Sjors H.W. Scheres, Michel Goedert.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Regan-Fendt KE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; DeJesse J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Reichert SL; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Staropoli NP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Santos FJR; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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

Schweighauser M; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.; Garringer HJ; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.; Klingstedt T; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.; Department of Physics, Chemistry and Biology, Lingköping University, Lingköping, Sweden.; Nilsson KPR; Department of Physics, Chemistry and Biology, Lingköping University, Lingköping, Sweden.; Masuda-Suzukake M; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.; Department of Brain and Neuroscience, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.; Murrell JR; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Risacher SL; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA.; Vidal R; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.; Scheres SHW; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK. scheres@mrc-lmb.cam.ac.uk.; Goedert M; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK. mg@mrc-lmb.cam.ac.uk.; Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA. bghetti@iupui.edu.; Newell KL; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA. klnewell@iu.edu.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Sharma M; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Leung D; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; Jones LCW; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Pacillo L; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; James AE; Translational Allergic Immunopathology Unit, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) , Bethesda, MD, USA.; Murrell JR; Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia , Philadelphia, PA, USA.; Delafontaine S; Dept. of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven , Leuven, Belgium.; Dept. of Pediatrics, Pediatric Immunodeficiencies Division, University Hospitals Leuven , Leuven, Belgium.; Maimaris J; Institute of Immunity and Transplantation, Division of Infection and Immunity, University College London , London, UK.; Dept. of Immunology, Royal Free London NHS Foundation Trust , London, UK.; Vaseghi-Shanjani M; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Del Bel KL; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Lu HY; Division of Hematology/Oncology, Boston Children's Hospital , Harvard Medical School, Boston, MA, USA.; Dept. of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School , Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard , Cambridge, MA, USA.; Chua GT; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Allergy Centre, Union Hospital , Hong Kong, China.; Di Cesare S; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Fornes O; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Dept. of Medical Genetics, University of British Columbia , Vancouver, Canada.; Liu Z; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Di Matteo G; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Fu MP; Dept. of Medical Genetics, The University of British Columbia , Vancouver, Canada.; Genome Science and Technology Program, Faculty of Science, The University of British Columbia , Vancouver, Canada.; Amodio D; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Tam IYS; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Chan GSW; Dept. of Pathology, Queen Mary Hospital , Hong Kong, China.; Sharma AA; Dept. of Pathology, Emory University , Atlanta, GA, USA.; Dalmann J; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; van der Lee R; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Dept. of Medical Genetics, University of British Columbia , Vancouver, Canada.; Blanchard-Rohner G; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Unit of Immunology and Vaccinology, Division of General Pediatrics, Dept. of Woman, Child, and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva , Geneva, Switzerland.; Lin S; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; Richmond PA; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Lee JJ; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Genome Science and Technology Graduate Program, University of British Columbia , Vancouver, Canada.; Matthews A; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Dept. of Paediatrics, University of Toronto , Toronto, Canada.; Seear M; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Turvey AK; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Philips RL; Molecular Immunology and Inflammation Branch, National Institute of Arthritis, Musculoskeletal and Skin Diseases, NIH , Bethesda, MD, USA.; Brown-Whitehorn TF; Dept. of Pediatrics, Division of Allergy and Immunology, Children's Hospital of Philadelphia , Philadelphia, PA, USA.; Gray CJ; Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia , Philadelphia, PA, USA.; Izumi K; Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia , Philadelphia, PA, USA.; Treat JR; Pediatrics, Division of Pediatric Dermatology, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA, USA.; Wood KH; Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia , Philadelphia, PA, USA.; Lack J; NIAID Collaborative Bioinformatics Resource, NIAID , NIH, Bethesda, MD, USA.; Khleborodova A; NIAID Collaborative Bioinformatics Resource, NIAID , NIH, Bethesda, MD, USA.; Niemela JE; Immunology Service, Clinical Center, NIH , Bethesda, MD, USA.; Yang X; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Liang R; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Kui L; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Dept. of Pediatrics, University of California San Diego , La Jolla, CA, USA.; Wong CSM; Dept. of Medicine, Divison of Dermatology, The University of Hong Kong , Hong Kong, China.; Poon GWK; Dept. of Paediatrics and Adolescent Medicine, Queen Mary Hospital , Hong Kong, China.; Hoischen A; Dept. of Human Genetics, Radboud University Medical Center , Nijmegen, Netherlands.; van der Made CI; Dept. of Human Genetics, Radboud University Medical Center , Nijmegen, Netherlands.; Yang J; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Chan KW; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Rosa Duque JSD; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Lee PPW; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Ho MHK; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Virtus Medical , Hong Kong, China.; Chung BHY; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Le HTM; Pediatric Center, Vinmec Times City International General Hospital , Hanoi, Vietnam.; Yang W; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Rohani P; Pediatrics, Pediatric Gastroenterology and Hepatology Research Center, Pediatrics Centre of Excellence, Children's Medical Center, University of Medical Sciences , Tehran, Iran.; Fouladvand A; Pediatrics, Allergy and Clinical Immunology, Lorestan University of Medical Sciences , Khoramabad, Iran.; Rokni-Zadeh H; Dept. of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences , Zanjan, Iran.; Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences , Tehran, Iran.; Miryounesi M; Dept. of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences , Tehran, Iran.; Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Shahrooei M; Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven , Leuven, Belgium.; Finocchi A; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Rossi P; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; DPUO, Research Unit of Infectivology and Pediatrics Drugs Development, Bambino Gesù Children Hospital IRCCS , Rome, Italy.; Rivalta B; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Cifaldi C; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS , Rome, Italy.; Passarelli C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS , Rome, Italy.; Arasi S; Allergy Unit, Area of Translational Research in Pediatric Specialities, Bambino Gesù Children's Hospital, IRCCS , Rome, Italy.; Bullens D; Dept. of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven , Leuven, Belgium.; Dept. of Pediatrics, Pediatric Allergy Division, University Hospitals Leuven , Leuven, Belgium.; Sauer K; Dept. of Pediatrics, Pediatric Pulmonology Division, AZ Sint-Jan Brugge , Brugge, Belgium.; Dept. of Pediatrics, Pediatric Pulmonology Division, University Hospitals Leuven , Leuven, Belgium.; Claeys T; Dept. of Pediatrics, Pediatric Gastroenterology Division, AZ Sint-Jan Brugge , Brugge, Belgium.; Biggs CM; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.; Morris EC; Institute of Immunity and Transplantation, Division of Infection and Immunity, University College London , London, UK.; Dept. of Immunology, Royal Free London NHS Foundation Trust , London, UK.; Rosenzweig SD; Immunology Service, Clinical Center, NIH , Bethesda, MD, USA.; O'Shea JJ; Molecular Immunology and Inflammation Branch, National Institute of Arthritis, Musculoskeletal and Skin Diseases, NIH , Bethesda, MD, USA.; Wasserman WW; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Bedford HM; Dept. of Paediatrics, University of Toronto , Toronto, Canada.; Genetics Program, North York General Hospital , Toronto, Canada.; van Karnebeek CDM; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute , Vancouver, Canada.; Depts. of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers , Amsterdam, Netherlands.; Palma P; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Academic Dept. of Pediatrics (DPUO), Unit of Clinical Immunology and Vaccinology, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Burns SO; Institute of Immunity and Transplantation, Division of Infection and Immunity, University College London , London, UK.; Dept. of Immunology, Royal Free London NHS Foundation Trust , London, UK.; Meyts I; Dept. of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven , Leuven, Belgium.; Dept. of Pediatrics, Pediatric Immunodeficiencies Division, University Hospitals Leuven , Leuven, Belgium.; Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Lyons JJ; Translational Allergic Immunopathology Unit, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) , Bethesda, MD, USA.; Parvaneh N; Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.; Nguyen ATV; Dept. of Immunology, Allergy and Rheumatology, Division of Primary Immunodeficiency, Vietnam National Children's Hospital , Hanoi, Vietnam.; Cancrini C; Dept. of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.; Research Unit of Primary Immunodeficiency, IRCCS Bambin Gesù Children Hospital, Rome, Italy.; Heimall J; Dept. of Pediatrics, Division of Allergy and Immunology, Children's Hospital of Philadelphia , Philadelphia, PA, USA.; Ahmed H; Faculty of Health Sciences, McMaster University , Hamilton, Canada.; McKinnon ML; Dept. of Medical Genetics, University of British Columbia , Vancouver, Canada.; Lau YL; Dept. of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong , Hong Kong, China.; Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Turvey SE; Dept. of Pediatrics, BC Children's Hospital, University of British Columbia , Vancouver, Canada.

Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE

Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France. Electronic address: silvestre.cuinat@chu-nantes.fr.; Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.; Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.; Stegmann A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Holwerda SJB; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Khalifa M; Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates.; Nugud AA; Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates.; Yasaei H; Dubai Genetics Center, Pathology and Genetics Department, Dubai Health Authority, Dubai, United Arab Emirates.; Ousager LB; Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark.; Brasch-Andersen C; Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark.; Deb W; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.; Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.; Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Amsterdam KH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Matalon D; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA.; Dykzeul N; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA.; White S; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA.; Spiteri E; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA.; Devriendt K; Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium.; Boogaerts A; Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium.; Willemsen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Gerkes EH; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Izumi K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.; Krantz ID; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.; Xu ZL; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.; Murrell JR; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.; Valenzuela I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain.; Cusco I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Yang Y; AiLife Diagnostics, Pearland, TX.; Bizaoui V; Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de l'Estran, Pontorson, France.; Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Faivre L; Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU-TRANSLAD, GAD, CHU Dijon et Université de Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.; Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.; Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.; Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.; Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.; Bezieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.; Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France. Electronic address: benjamin.cogne@chu-nantes.fr.

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

Abrahamson EE; Department of Neurology, University of Pittsburgh School of Medicine. Pittsburgh, PA, USA.; Geriatric Research Education and Clinical Center, Pittsburgh VA Healthcare System, Pittsburgh, PA, USA.; Kofler JK; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Becker CR; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Price JC; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Massachusetts General Hospital, A. A. Martinos Center for Biomedical Imaging, Cambridge, MA, USA.; Newell KL; Department of Pathology and Laboratory Medicine, Indiana University, Indianapolis, IN, USA.; Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University, Indianapolis, IN, USA.; Murrell JR; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; McLean CA; Victorian Brain Bank, The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; Lopez OL; Department of Neurology, University of Pittsburgh School of Medicine. Pittsburgh, PA, USA.; Mathis CA; Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Klunk WE; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Villemagne VL; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Medicine, The University of Melbourne, Melbourne, VIC, Australia.; School of Medical and Health Sciences, Edith Cowan University, Perth, WA, Australia.; Ikonomovic MD; Department of Neurology, University of Pittsburgh School of Medicine. Pittsburgh, PA, USA.; Geriatric Research Education and Clinical Center, Pittsburgh VA Healthcare System, Pittsburgh, PA, USA.; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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

Ritter AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Gold J; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Hayashi H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Ackermann AM; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Hanke S; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Skraban C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Cuddapah S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Kuroda Y; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Wen J; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Takeda R; Division of Genetics, Nagano Children's Hospital, Nagano, Japan.; Bibb A; Department of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, GA.; El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique Médicale, UMR_S1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg et INSERM, Strasbourg, France.; Piton A; Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, IGBMC - CNRS UMR 7104 - Inserm U 1258, Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Ohl J; Service d'assistance Médicale à la Procréation, Centre médico-chirurgical et obstétrical (CMCO), Schiltigheim, France.; Kukolich MK; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX.; Nagasaki K; Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata, Japan.; Kato K; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.; Bhatti T; Division of Anatomic Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA.; Russo P; Division of Anatomic Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA.; Krock B; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.; Murrell JR; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.; Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Duke University School of Medicine, Durham, NC.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Duke University School of Medicine, Durham, NC.; Stong N; Institute for Genomic Medicine, Columbia University, New York, NY.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Sawano K; Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata, Japan.; Torti E; GeneDx, Gaithersburg, MD.; Willaert R; GeneDx, Gaithersburg, MD.; Si Y; GeneDx, Gaithersburg, MD.; Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Emory University, Atlanta, GA.; Wirgenes KV; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.; Thomassen K; Department of Radiology and Nuclear Medicine, Oslo University Hospital, Oslo, Norway.; Carlotti K; Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH.; Erwin A; Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH.; Lazier J; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Marquardt T; Department of Pediatrics, University Hospital of Muenster, Muenster, Germany.; He M; Metabolic and Advanced Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address: izumik1@chop.edu.

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