부산대학교 도서관

McDiarmid AH; Centre for Genomic & Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Gospodinova KO; Centre for Genomic & Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Elliott RJR; Cancer Research UK Scotland Centre, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Dawson JC; Cancer Research UK Scotland Centre, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Graham RE; Cancer Research UK Scotland Centre, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; El-Daher MT; Medical Research Council Human Genetics Unit, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Anderson SM; Centre for Genomic & Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Glen SC; Centre for Genomic & Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Glerup S; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark.; Carragher NO; Cancer Research UK Scotland Centre, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Evans KL; Centre for Genomic & Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Zhu G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Didry-Barca B; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Université Paris Cité, Paris, France.; Seabra L; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Université Paris Cité, Paris, France.; Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Uggenti C; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Touimy M; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Université Paris Cité, Paris, France.; Rodero MP; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Université Paris Cité, Paris, France.; Trapero RH; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Bondet V; Translational Immunology Unit, Institut Pasteur, Université Paris Cité, Paris, France.; Duffy D; Translational Immunology Unit, Institut Pasteur, Université Paris Cité, Paris, France.; Gautier P; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Livingstone K; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Sutherland FJH; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Lebon P; Medical School, Université Paris Cité, Paris, France.; Parisot M; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Université Paris Cité, Paris, France.; Bole-Feysot C; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Université Paris Cité, Paris, France.; Masson C; Bioinformatics Platform, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UMS3633, Université Paris Cité, Paris, France.; Cagnard N; Bioinformatics Platform, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UMS3633, Université Paris Cité, Paris, France.; Nitschké P; Bioinformatics Platform, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UMS3633, Université Paris Cité, Paris, France.; Anderson G; Department of Histopathology, Camelia Botnar Laboratories, Great Ormond Street Hospital for Children, London, UK.; Assmann B; Heidelberg University, Medical Faculty Heidelberg, Centre for Paediatric and Adolescent Medicine Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Barth M; Service de Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France.; Boespflug-Tanguy O; APHP Centre de Référence LEUKOFRANCE Service de Neuropediatrie Hopital Robert Debre, Paris, France; Universite Paris Cité NeuroDiderot UMR INSERM 1141, Hopital Robert Debre, Paris, France.; D'Arco F; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.; Dorboz I; APHP Centre de Référence LEUKOFRANCE Service de Neuropediatrie Hopital Robert Debre, Paris, France; Universite Paris Cité NeuroDiderot UMR INSERM 1141, Hopital Robert Debre, Paris, France.; Giese T; Institute of Immunology and German Centre for Infection Research (DZIF), Partner Site Heidelberg, Heidelberg University Hospital, Heidelberg, Germany.; Hacohen Y; Department of Neurology, Great Ormond Street Hospital for Children, London, UK; Queen Square MS Centre, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK.; Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czechia.; Husson M; Unité de Neurologie de l'Enfant et de l'Adolescent, CHU Pellegrin, Bordeaux, France.; Lepine A; Service de Neuropédiatrie, Hôpital de la Timone Enfants, Marseille, France.; Lim M; Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK; Department of Women and Children's Health, School of Life Course Sciences (SoLCS), King's College London, London, UK.; Mancardi MM; Unit of Child Neuropsychiatry, EpiCARE Network, IRCCS Giannina Gaslini, Genova, Italy.; Melki I; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Université Paris Cité, Paris, France; Department of General Paediatrics, Armand Trousseau Hospital, AP-HP, Sorbonne Université, Paris, France.; Neubauer D; Department of Child, Adolescent, and Developmental Neurology, University Children's Hospital, Ljubljana, Slovenia.; Sa M; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czechia.; Seitz A; Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.; Rottman MS; Department of Diagnostic Imaging, Rambam Health Care Campus, Faculty of Medicine, Technion, Haifa, Israel.; Sanquer S; Biochemistry, Metabolomics, and Proteomics Department, Necker Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Centre, Université Paris Cité, Paris, France.; Straussberg R; Institute of Paediatric Neurology, Schneider Children's Medical Centre of Israel, Petach Tikva, Israel; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Vlčková M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czechia.; Villéga F; Unité de Neurologie de l'Enfant et de l'Adolescent, CHU Pellegrin, Bordeaux, France.; Wagner M; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Paediatric Neurology, Developmental Neurology, and Social Pediatrics, Dr von Hauner Children's Hospital, Munich, Germany.; Zerem A; Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Frémond ML; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Université Paris Cité, Paris, France; Pediatric Neurology Institute, Dana-Dwek Children's Hospital; Reference Centre for Inflammatory Rheumatism, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE), Paris, France; Department of Paediatric Haematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.; Kaliakatsos M; Department of Neurology, Great Ormond Street Hospital for Children, London, UK; Department of Neuroscience, Institute of Child Health, University College London, London, UK.; Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Université Paris Cité, Paris, France. Electronic address: yanick.crow@ed.ac.uk.; El-Daher MT; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Lepelley A; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Université Paris Cité, Paris, France. Electronic address: alice.lepelley@inserm.fr.

Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

Zhu G; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.; Badonyi M; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.; Franklin L; Cytokine Signalling Unit, Institut Pasteur, Paris, France.; Seabra L; Institut Imagine, Paris, France.; Rice GI; Division of Evolution, Infection and Genomics, The University of Manchester, Manchester, UK.; Anne-Boland-Auge; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France.; Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, France.; El-Chehadeh S; Institut de Génétique Médicale d'Alsace, Strasbourg, France.; Anheim M; Service de Neurologie, Centre de Référence Des Maladies Neurogénétiques Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Fédération de Médecine Translationnelle de Médecine de Strasbourg, Strasbourg, France.; Institut de Génétique Et de Biologie Moléculaire Et Cellulaire, UMR7104, INSERM-U964/CNRS, Université de Strasbourg, Illkirch, France.; de Saint-Martin A; Unité de Neurologie Pédiatrique, Centre de Référence Des Epilepsies Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; UMR 7104 INSERM U1258, IGBMC-CNRS, Strasbourg, France.; Pellegrini S; Cytokine Signalling Unit, Institut Pasteur, Paris, France.; Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.; Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK. yanickcrow@mac.com.; Institut Imagine, Paris, France. yanickcrow@mac.com.; El-Daher MT; MRC Human Genetics Unit, Institute of Genetics and Cancer, The University of Edinburgh, Edinburgh, UK.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Gajardo T; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.; Bernard M; UMR 144, Institut Curie, Paris, France; Institut Pierre-Gilles de Gennes, Paris Sciences and Letters Research University, Paris, France.; Lô M; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.; Turck E; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.; Leveau C; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.; El-Daher MT; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.; Deslys A; Leukomotion Lab, Université de Paris Cité, CNRS, INSERM, Institut Necker-Enfants Malades, F-75015 Paris, France.; Panikulam P; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.; Menche C; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, Main, Germany; Frankfurt Cancer Institute, Goethe University Frankfurt, Frankfurt, Germany.; Kurowska M; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.; Le Lay G; UMR 144, Institut Curie, Paris, France; Institut Pierre-Gilles de Gennes, Paris Sciences and Letters Research University, Paris, France.; Barbier L; UMR 144, Institut Curie, Paris, France; Institut Pierre-Gilles de Gennes, Paris Sciences and Letters Research University, Paris, France.; Moshous D; Imagine Institute, Université de Paris Cité, Paris, France; Pediatric Immunology Hematology and Rheumatology Department, Université Paris Cité, Paris, France.; Neven B; Imagine Institute, Université de Paris Cité, Paris, France; Pediatric Immunology Hematology and Rheumatology Department, Université Paris Cité, Paris, France.; Farin HF; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, Main, Germany; Frankfurt Cancer Institute, Goethe University Frankfurt, Frankfurt, Germany.; Fischer A; Imagine Institute, Université de Paris Cité, Paris, France; Pediatric Immunology Hematology and Rheumatology Department, Université Paris Cité, Paris, France; Collège de France, Paris, France.; Ménasché G; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.; de Saint Basile G; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France; Centre d'Etude des Déficits Immunitaires, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Vargas P; UMR 144, Institut Curie, Paris, France; Institut Pierre-Gilles de Gennes, Paris Sciences and Letters Research University, Paris, France; Leukomotion Lab, Université de Paris Cité, CNRS, INSERM, Institut Necker-Enfants Malades, F-75015 Paris, France. Electronic address: pablo.vargas@inserm.fr.; Sepulveda FE; Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France; CNRS, Paris, France. Electronic address: fernando.sepulveda@inserm.fr.

Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

El-Daher MT; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.; Imagine Institute, Université de Paris, Paris, France.; Lemale J; Pediatric Nutrition and Gastroenterology Department, Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France.; Bruneau J; Imagine Institute, Université de Paris, Paris, France.; Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Leveau C; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.; Imagine Institute, Université de Paris, Paris, France.; Guerin F; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.; Imagine Institute, Université de Paris, Paris, France.; Lambert N; Center for the Study of Primary Immunodeficiencies, Necker Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Diana JS; Pediatric Hematology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR 1163, Paris, France.; Neven B; Pediatric Hematology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR 1163, Paris, France.; Sepulveda FE; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.; Imagine Institute, Université de Paris, Paris, France.; Centre Nationale de la Recherche Scientifique - CNRS, Villejuif, France.; Coulomb-L'Hermine A; Department of Pathology, Hôpital A Trousseau, Assistance-Publique des Hôpitaux de Paris, Sorbonne Université, Paris, France.; Molina T; Imagine Institute, Université de Paris, Paris, France.; Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Picard C; Imagine Institute, Université de Paris, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Paris, France.; Fischer A; Imagine Institute, Université de Paris, Paris, France.; Pediatric Hematology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM UMR 1163, Paris, France.; Collège de France, Paris, France.; de Saint Basile G; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Paris, France.; Imagine Institute, Université de Paris, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

El-Daher MT; Institut Curie, Orsay, France CNRS UMR3306, Orsay, France INSERM U1005, Orsay, France.; Hangen E; Institut Curie, Orsay, France CNRS UMR3306, Orsay, France INSERM U1005, Orsay, France.; Bruyère J; Institut Curie, Orsay, France CNRS UMR3306, Orsay, France INSERM U1005, Orsay, France Inserm U836, Grenoble, France Grenoble Institut des Neurosciences, GIN University of Grenoble Alpes, Grenoble, France.; Poizat G; Institut Curie, Orsay, France CNRS UMR3306, Orsay, France INSERM U1005, Orsay, France.; Al-Ramahi I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Pardo R; Institut Curie, Orsay, France CNRS UMR3306, Orsay, France INSERM U1005, Orsay, France.; Bourg N; ISMO, CNRS UMR8214 University of Paris Sud, Orsay, France CPBM FR2764 University of Paris Sud, Orsay, France.; Souquere S; CNRS UMR8122, Villejuif, France Institut Gustave Roussy, Villejuif, France.; Mayet C; ISMO, CNRS UMR8214 University of Paris Sud, Orsay, France CPBM FR2764 University of Paris Sud, Orsay, France.; Pierron G; CNRS UMR8122, Villejuif, France Institut Gustave Roussy, Villejuif, France.; Lévêque-Fort S; ISMO, CNRS UMR8214 University of Paris Sud, Orsay, France CPBM FR2764 University of Paris Sud, Orsay, France.; Botas J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Humbert S; Institut Curie, Orsay, France CNRS UMR3306, Orsay, France INSERM U1005, Orsay, France Inserm U836, Grenoble, France Grenoble Institut des Neurosciences, GIN University of Grenoble Alpes, Grenoble, France sandrine.humbert@inserm.fr frederic.saudou@inserm.fr.; Saudou F; Institut Curie, Orsay, France CNRS UMR3306, Orsay, France INSERM U1005, Orsay, France Inserm U836, Grenoble, France Grenoble Institut des Neurosciences, GIN University of Grenoble Alpes, Grenoble, France CHU de Grenoble, Grenoble, France sandrine.humbert@inserm.fr frederic.saudou@inserm.fr.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

Uggenti C; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Lepelley A; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.; Depp M; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Badrock AP; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Rodero MP; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.; El-Daher MT; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Dhir S; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Wheeler AP; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Dhir A; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Albawardi W; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Frémond ML; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.; Seabra L; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.; Doig J; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Blair N; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Martin-Niclos MJ; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.; Della Mina E; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France.; Rubio-Roldán A; Centre for Genomics and Oncological Research (GENyO), Pfizer-University of Granada-Andalusian Regional Government, Parque Tecnico de la Ciencia de Salud, Granada, Spain.; García-Pérez JL; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Centre for Genomics and Oncological Research (GENyO), Pfizer-University of Granada-Andalusian Regional Government, Parque Tecnico de la Ciencia de Salud, Granada, Spain.; Sproul D; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Cancer Research UK Edinburgh Centre, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Rehwinkel J; Medical Research Council Human Immunology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Hertzog J; Medical Research Council Human Immunology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Boland-Auge A; Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine, Évry, France.; Olaso R; Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine, Évry, France.; Deleuze JF; Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine, Évry, France.; Baruteau J; University College London Great Ormond Street Institute of Child Health, London, UK.; Brochard K; Service de Médecine Interne Néphrologie Pédiatrique, Hôpital des Enfants, Toulouse, France.; Buckley J; Department of Paediatric Nephrology, University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Cavallera V; Child Neurology and Psychiatry Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Mondino Foundation, Pavia, Italy.; Cereda C; Genomic and Post-Genomic Center, Istituto di Ricovero e Cura a Carattere Scientifico, Mondino Foundation, Pavia, Italy.; De Waele LMH; Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium.; Dobbie A; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK.; Doummar D; Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Département de Neuropédiatrie, Centre de Référence de Neurogénétique et Mouvements Anormaux de l'Enfant, Hôpital Armand Trousseau, Paris, France.; Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, London, UK.; Koch-Hogrebe M; Department of Paediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany.; Kumar R; Department of Paediatric Neurology, Alder Hey Children's National Health Service Foundation Trust, Liverpool, UK.; Lamb K; Department of Paediatrics, Gloucestershire Royal Hospital, Gloucester, UK.; Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals National Health Service Trust, Leeds, UK.; Majumdar A; Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK.; Lorenço CM; Faculdade de Medicina - Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil.; Orcesi S; Child Neurology and Psychiatry Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.; Peudenier S; Centre de Référence des Déficiences Intellectuelles de Causes Rares et Polyhandicap, Centre Hospitalier Régional Universitaire de Brest, Brest, France.; Rostasy K; Department of Paediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany.; Salmon CA; Department of Paediatrics, Royal Surrey County Hospital, Guildford, UK.; Scott C; University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Tonduti D; Center for diagnosis and treatment of Leukodystrophies, Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy.; Touati G; Reference Center for Inborn Errors of Metabolism-Department of Pediatrics, Hôpital des Enfants-Centre Hospitalier Universitaire de Toulouse, Toulouse, France.; Valente M; Genomic and Post-Genomic Center, Istituto di Ricovero e Cura a Carattere Scientifico, Mondino Foundation, Pavia, Italy.; van der Linden H Jr; Department of Paediatric Neurology, Neurological Institute of Goiânia, Goiânia, Brazil.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.; Vermelle M; Department of Paediatrics, Centre Hospitalier de Dunkerque, Dunkerque, France.; Webb K; University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Jackson AP; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Reijns MAM; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Gilbert N; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK.; Crow YJ; Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK. yanickcrow@mac.com.; University of Paris, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, Paris, France. yanickcrow@mac.com.

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

Leveau C; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris.; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris.; Gajardo T; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris.; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris.; El-Daher MT; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris.; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris.; Cagnard N; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris.; Bioinformatic Platform, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris.; Structure Fédérative de Recherche (SFR) Necker, INSERM US24/CNRS UMS 3633, Paris.; Fischer A; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris.; Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades Immunology and Pediatric Hematology Department, Paris.; Collège de France, Paris, France.; INSERM UMR1163, Paris.; de Saint Basile G; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris genevieve.de-saint-basile@inserm.fr fernando.sepulveda@inserm.fr.; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris.; Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Centre d'Etudes des Déficits Immunitaires, Paris.; Sepulveda FE; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris genevieve.de-saint-basile@inserm.fr fernando.sepulveda@inserm.fr.; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris.; Centre National de la Recherche Scientifique - CNRS, Paris, France.

Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

El-Daher MT; 1Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris, France.; 2Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; Cagnard N; 2Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; 3Bioinformatic Platform, INSERM UMR 1163, Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; 4Structure Fédérative de Recherche (SFR) Necker, INSERM US24/CNRS UMS 3633, Paris, France.; Gil M; 1Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris, France.; Da Cruz MC; 2Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; 5Laboratory of Genome Dynamics in the Immune System, INSERM UMR1163, Paris, France.; Leveau C; 1Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris, France.; 2Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; Sepulveda F; 1Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris, France.; 2Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; Zarhrate M; 6Genomic Platform, INSERM UMR 1163, Imagine Institute, Paris, France.; Tores F; 3Bioinformatic Platform, INSERM UMR 1163, Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; Legoix P; 7ICGex Next-Generation Sequencing Platform, , Curie Institute, Paris, France.; Baulande S; 7ICGex Next-Generation Sequencing Platform, , Curie Institute, Paris, France.; de Villartay JP; 2Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; 5Laboratory of Genome Dynamics in the Immune System, INSERM UMR1163, Paris, France.; Almouzni G; 8CNRS UMR3664, Curie Institute, PSL Research University, Paris, France.; 9Université Sorbonne, Pierre et Marie Curie (UPMC), Paris, France.; Quivy JP; 8CNRS UMR3664, Curie Institute, PSL Research University, Paris, France.; 9Université Sorbonne, Pierre et Marie Curie (UPMC), Paris, France.; Fischer A; 2Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; 10Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades Immunology and Pediatric Hematology Department, Paris, France.; 11Collège de France, Paris, France.; INSERM UMR1163, Paris, France.; de Saint Basile G; 1Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM UMR 1163, Imagine Institute, Paris, France.; 2Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France.; 13Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Centre d'Etudes des Déficits Immunitaires, Paris, France.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101661034 Publication Model: eCollection Cited Medium: Print ISSN: 2056-5968 (Print) Linking ISSN: 20565968 NLM ISO Abbreviation: Cell Discov Subsets: PubMed not MEDLINE

Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France.; Briggs TA; Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Department of Genomic Medicine, St Marys Hospital, Manchester Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Eleftheriou D; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, UK.; Paediatric Rheumatology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Parida A; Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham Women and Children's Hospital Foundation Trust, Birmingham, UK.; Battison C; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Edinburgh, UK.; Giddings A; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Edinburgh, UK.; Kennel T; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Edinburgh, UK.; Parker RA; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Edinburgh, UK.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Smith KY; Department of Medicine Division of Infectious Diseases, Rush University Medical Center, Chicago, Illinois.; Tierney C; Mollan K; Venuto CS; Budhathoki C; Ma Q; Morse GD; Sax P; Katzenstein D; Godfrey C; Fischl M; Daar ES; Collier AC

Publisher: Oxford University Press Country of Publication: United States NLM ID: 9203213 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6591 (Electronic) Linking ISSN: 10584838 NLM ISO Abbreviation: Clin Infect Dis Subsets: MEDLINE

Sax PE; Division of Infectious Diseases, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. psax@partners.org; Tierney C; Collier AC; Daar ES; Mollan K; Budhathoki C; Godfrey C; Jahed NC; Myers L; Katzenstein D; Farajallah A; Rooney JF; Ha B; Woodward WC; Feinberg J; Tashima K; Murphy RL; Fischl MA

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0413675 Publication Model: Print Cited Medium: Internet ISSN: 1537-6613 (Electronic) Linking ISSN: 00221899 NLM ISO Abbreviation: J Infect Dis Subsets: MEDLINE

Daar ES; Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, 1124 West Carson Street, N-24, Torrance, CA 90502, USA. EDaar@LABioMed.org; Tierney C; Fischl MA; Sax PE; Mollan K; Budhathoki C; Godfrey C; Jahed NC; Myers L; Katzenstein D; Farajallah A; Rooney JF; Pappa KA; Woodward WC; Patterson K; Bolivar H; Benson CA; Collier AC

Publisher: American College of Physicians--American Society of Internal Medicine Country of Publication: United States NLM ID: 0372351 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-3704 (Electronic) Linking ISSN: 00034819 NLM ISO Abbreviation: Ann Intern Med Subsets: MEDLINE

Sax PE; Division of Infectious Diseases and the Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA. psax@partners.org; Tierney C; Collier AC; Fischl MA; Mollan K; Peeples L; Godfrey C; Jahed NC; Myers L; Katzenstein D; Farajallah A; Rooney JF; Ha B; Woodward WC; Koletar SL; Johnson VA; Geiseler PJ; Daar ES

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE