Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Pedroza LA"'
Autor:
Shuen AY., Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, Crooks B, Dvir R, FarahR, Hijiya N, George B, Laetsch TW, Larouche V, Lindhorst S, Luiten RC, Magimairajan V, Mason G, Masn W, Mondechai O, Mushtaq N, Nocholas G, Oren M, Palma L, Pedroza LA, Ramdas J, Smauel D, Wolfe Schneider K, Seeley A, Semotiuk K, Shamvil A, Sumerauer D, Toledano H, Tomboc P, Wierman M, VAN DAMME An
Publikováno v:
J Clin Oncol, no.4 (2019)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1493::181dad1a8b4b522271e2f2203098170d
https://hdl.handle.net/2078.1/212993
https://hdl.handle.net/2078.1/212993
Autor:
Mohammad K. Eldomery, Olaug K. Rødningen, Cecilia Poli, Debra Canter, Berit Flatø, Ketil Heimdal, Nicholas L. Rider, Silje F. Jørgensen, Hasibe Artac, Hans Christian Erichsen, Francisco Javier Espinosa Rosales, Ivan K. Chinn, Alison A. Bertuch, Bo Yuan, Jordan S. Orange, Emily M. Mace, Wojciech Wiszniewski, Robert Lyle, Shalini N. Jhangiani, Tobias Gedde-Dahl, Carla M. Davis, Carl E. Allen, I. Celine Hanson, Magnus K. O. Burstedt, Thomas B. Issekutz, Mari Ann Kulseth, Yavuz Bayram, Eric A. Smith, Tram N. Cao, Stephen Jolles, Andrew C. Issekutz, Pubudu S. Samarakoon, Alice Y. Chan, Gozde Yesil, Eva Holmberg, Børre Fevang, Diana K. Bayer, John W. Belmont, Asbjørg Stray-Pedersen, Timothy J. Vece, Magdalena Walkiewicz, James R. Lupski, Ying Sheng, Trine Prescott, Liv T. N. Osnes, Cecilie F. Rustad, Nina Denisse Guerrero-Cursaru, Juan Carlos Aldave Becerra, Victor Wei Zhang, Philip M. Boone, Mohammad S. Ehlayel, Jason W. Caldwell, Tore G. Abrahamsen, José Luis Franco, Harshal Abhyankar, Henrik Hjorth-Hansen, Liliana Bezrodnik, Vegard Skogen, Nicola A.M. Wright, Lisa R. Forbes, Anne Grete Bechensteen, Christine R. Beck, Saul Oswaldo Lugo Reyes, Lee-Jun C. Wong, Shen Gu, Sarah K. Nicholas, Christina E. West, Filiz O. Seeborg, Mehmed M. Atik, Eric Boerwinkle, Luis A. Pedroza, Caterina Cancrini, Hanne Sørmo Sorte, Yaping Yang, Christine M. Eng, Richard A. Gibbs, Lenora M. Noroski, Alessandro Aiuti, Ender Karaca, Torstein Øverland, Claudia Milena Trujillo Vargas, Jordan K. Abbott, Geir E. Tjønnfjord, William T. Shearer, Javier Chinen, Ingunn Dybedal, Tomasz Gambin, Donna M. Muzny, Pål Aukrust, Ingvild Nordøy, María Soledad Caldirola, Jianhong Hu, Zeynep Coban Akdemir
Publikováno v:
The Journal of allergy and clinical immunology, vol 139, iss 1
WOS: 000393996800025
PubMed: 27577878
Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived fr
PubMed: 27577878
Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abf0338cd9012533e4851a811cd28aa
https://escholarship.org/uc/item/8188960d
https://escholarship.org/uc/item/8188960d
Autor:
Guilz NC; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Ahn YO; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Fatima H; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Pedroza LA; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Seo S; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Soni RK; Proteomics and Macromolecular Crystallography Shared Resource, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY., Wang N; Pediatrics and Obstetrics and Gynecology, Columbia Stem Cell Initiative, Naomi Berrie Diabetes Center, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Egli D; Pediatrics and Obstetrics and Gynecology, Columbia Stem Cell Initiative, Naomi Berrie Diabetes Center, Columbia University Vagelos College of Physicians and Surgeons, New York, NY., Mace EM; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY.
Publikováno v:
Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2024 Jul 01; Vol. 213 (1), pp. 40-51.
Autor:
Horesh ME; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Martin-Fernandez M; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gruber C; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Buta S; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris , Paris, France.; Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France., Puzenat E; Department of Dermatology and INSERM 1098, University of Bourgogne-Franche Comté, Besançon, France., Lesmana H; Genomic Medicine Institute, Cleveland Clinic Foundation , Cleveland, OH, USA.; Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Cleveland Clinic, Cleveland, OH, USA., Wu Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Richardson A; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Stein D; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Hodeib S; Department of Paediatric Infectious Diseases and Virology, Imperial College London, London, UK.; Imperial College London, Centre for Paediatrics and Child Health , London, UK., Youssef M; Department of Pediatrics, Division of Pediatric Allergy, Immunology and Rheumatology, Columbia University, New York, NY, USA., Kurowski JA; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Cleveland Clinic, Cleveland, OH, USA., Feuille E; Weill Cornell Medicine , New York, NY, USA., Pedroza LA; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA., Fuleihan RL; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA., Haseley A; Center for Personalized Genetic Healthcare, Cleveland Clinic Foundation , Cleveland, OH, USA., Hovnanian A; Imagine Institute, University of Paris , Paris, France.; Laboratory of Genetic Skin Diseases, INSERM U1163, Paris, France., Quartier P; Université Paris-Cité , Paris, France.; Paediatric Hematology-Immunology and Rheumatology Unit, Hopital Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris, Paris, Fance., Rosain J; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris , Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children , Paris, France., Davis G; Department of Immunology, Derriford Hospital, Plymouth, UK., Mullan D; Department of Immunology, Derriford Hospital, Plymouth, UK., Stewart O; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Patel R; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Lee AE; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Rubinstein R; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Ewald L; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Maheshwari N; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA., Rahming V; Columbia University Irving Medical Center , New York, NY, USA., Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Division of Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA., Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine , Houston, TX, USA., Orange JS; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA., Sancho-Shimizu V; Department of Paediatric Infectious Diseases and Virology, Imperial College London, London, UK.; Imperial College London, Centre for Paediatrics and Child Health , London, UK., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute , New Yor, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France., Abul-Husn NS; Department of Medicine, Division of Genomic Medicine, Icahn School of Medicine at Mount Sinai, Institute for Genomic Health, New York, NY, USA., Itan Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Milner JD; Department of Pediatrics, Division of Pediatric Allergy, Immunology and Rheumatology, Columbia University, New York, NY, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris , Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA., Bogunovic D; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA.; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Hiroshima University, Hiroshima, Japan.
Publikováno v:
The Journal of experimental medicine [J Exp Med] 2024 Jun 03; Vol. 221 (6). Date of Electronic Publication: 2024 Apr 02.
Autor:
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D
Publikováno v:
The Journal of experimental medicine [J Exp Med] 2024 Jun 03; Vol. 221 (6). Date of Electronic Publication: 2024 May 06.
Autor:
Mao Z; Department of Molecular Microbiology and Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Betti MJ; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Cedeno MA; Department of Pediatrics, Hospital de ninos Roberto Gilbert Elizalde, Guayaquil, Ecuador., Pedroza LA; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA., Basaria S; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Liu Q; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Choi JM; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Markle JG; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Molecular Pathogenesis, Department of Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Publikováno v:
Clinical and experimental immunology [Clin Exp Immunol] 2024 Apr 23; Vol. 216 (2), pp. 113-119.
Autor:
Nunes de Andrade Medeiros SR; Biodiversity and Biotechnology of the Legal Amazon, PPG Bionorte, Federal University of Roraima (UFRR), Boa Vista, RR, Brazil.; Keizo Asami Institute, Federal University of Pernambuco (UFPE), Recife, PE, Brazil., Conrado Bezerra I; Keizo Asami Institute, Federal University of Pernambuco (UFPE), Recife, PE, Brazil., José da Silva A; Keizo Asami Institute, Federal University of Pernambuco (UFPE), Recife, PE, Brazil., Leal Pedroza LA; Keizo Asami Institute, Federal University of Pernambuco (UFPE), Recife, PE, Brazil., Gomes Martins RM; Biotechnology Multi-institutional Program, PPGBIOTEC, Federal University of Amazonas (UFAM), Manaus, Amazonas, Brazil., Moniz AMH; Biodiversity and Biotechnology of the Legal Amazon, PPG Bionorte, Federal University of Roraima (UFRR), Boa Vista, RR, Brazil., Gonçalves Reis de Melo AC; Environmental Chemistry Laboratory, Center for Research and Graduate Studies in Science and Technology, Federal University of Roraima (UFRR), Boa Vista, RR, Brazil., Souza Paiva W; Post-Graduate Program in Biochemistry and Molecular Biology, Federal University of Rio Grande do Norte, Natal, Brazil., Gubert P; Keizo Asami Institute, Federal University of Pernambuco (UFPE), Recife, PE, Brazil.; Post-Graduate Program in Biology Applied in Health, Federal University of Pernambuco, Recife, PE, Brazil., Alves de Melo Filho A; Biodiversity and Biotechnology of the Legal Amazon, PPG Bionorte, Federal University of Roraima (UFRR), Boa Vista, RR, Brazil.; Environmental Chemistry Laboratory, Center for Research and Graduate Studies in Science and Technology, Federal University of Roraima (UFRR), Boa Vista, RR, Brazil.
Publikováno v:
Chemistry & biodiversity [Chem Biodivers] 2024 Feb; Vol. 21 (2), pp. e202301536. Date of Electronic Publication: 2024 Jan 22.
Autor:
Arboleda M; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Mejía-Torres M; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Posada M; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Restrepo N; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Ríos-Tapias P; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Rivera-Pedroza LA; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Calle D; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Sánchez-Jiménez MM; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Marín K; Tropical Medicine Group, Colombian Institute of Tropical Medicine, Sabaneta 055450, Colombia., Agudelo-Flórez P; Graduate School, Universidad CES, Medellín 050021, Colombia.
Publikováno v:
Microorganisms [Microorganisms] 2023 Nov 13; Vol. 11 (11). Date of Electronic Publication: 2023 Nov 13.
Autor:
Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Guzmán-Vega FJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Jackson A; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Ramakrishnan R; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., Peña-Guerra KA; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Paassen BW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Allen NM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland., Kehoe CM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland., Robinson HK; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Pang L; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland., Lauronen L; Department of Clinical Neurophysiology, New Children´s Hospital, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland., Määttä T; Disability Services, Joint Authority for Kainuu, Kajaani, Finland., Schrauwen I; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA., Leal SM; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, London, Bucks, UK., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Sun A; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Thies J; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Pedroza LA; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA., Lara-Taranchenko Y; Universidad San Francisco de Quito, Colegio de ciencias de la salud-Hospital de los Valles, Quito, Ecuador., Chinn IK; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA., Garza-Flores A; Cook Children's Genetics, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA., McGlothlin J; Cook Children's Neurosciences, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA., Yang L; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China., Huang S; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China., Wang X; Cipher Gene Ltd, Beijing, China., Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Rosso G; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA., Lin X; Pediatrics Department, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China., Mohammed S; Clinical Genetics, Guy's and St Thomas NHS Foundation Trust, London, UK., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Mirzaa GM; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Elting MW; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Polstra AM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Schenck L; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA., Ruzhnikov MRZ; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA.; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA., Vetro A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital-University of Florence, Florence, Italy., Koboldt DC; Nationwide Children's Hospital, Columbus, OH, USA., Mosher TM; Nationwide Children's Hospital, Columbus, OH, USA., Pastore MT; Nationwide Children's Hospital, Columbus, OH, USA., McBride KL; Nationwide Children's Hospital, Columbus, OH, USA., Peng J; Xiangya Hospital of Central South University, Changsha, China., Pan Z; Xiangya Hospital of Central South University, Changsha, China., Willemsen M; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Koning S; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Turnpenny PD; Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK., de Vries BBA; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Lees M; NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Braddock SR; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA., Klemp KC; Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, Saint Louis, MO, USA., Vansenne F; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands., van Gijn ME; Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands., Quindipan C; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA., Deardorff MA; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Departments of Pathology and Pediatrics, Keck School of Medicine of the, University of Southern California, Los Angeles, CA, USA., Hamm JA; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA., Putnam AM; East Tennessee Children's Hospital Genetics Center, Knoxville, TN, USA., Baud R; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Walsh L; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Department of Neurology, Indiana University School of Medicine and Riley Hospital for Children, Indianapolis, IN, USA., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Temple St. Children's Hospital and Our Lady's Children's Hospital, Crumlin, Dublin, Ireland., Baptista J; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Person RE; GeneDx, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Crunk A; GeneDx, Gaithersburg, MD, USA., Keller-Ramey J; GeneDx, Gaithersburg, MD, USA., Reich A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., Alders M; Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction & Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands., Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada., McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Banka S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2122-2137. Date of Electronic Publication: 2021 Aug 03.
Autor:
Lorenzini T; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST- Spedali Civili of Brescia, Brescia, Italy., Fliegauf M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS (Centre for Integrative Biological Signalling Studies), University of Freiburg, Freiburg, Germany., Klammer N; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Frede N; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Proietti M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Bulashevska A; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Camacho-Ordonez N; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Varjosalo M; Institute of Biotechnology, University of Helsinki, Helsinki, Finland., Kinnunen M; Institute of Biotechnology, University of Helsinki, Helsinki, Finland., de Vries E; Laboratory for Medical Microbiology and Immunology, Elisabeth Tweesteden Hospital, and Department of Tranzo, Tilburg University, Tilburg, The Netherlands., van der Meer JWM; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands., Ameratunga R; Department of Virology and Immunology and the Department of Clinical Immunology, Auckland City Hospital, Auckland, New Zealand., Roifman CM; Canadian Centre for Primary Immunodeficiency, Immunogenomic Laboratory, Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada., Schejter YD; Canadian Centre for Primary Immunodeficiency, Immunogenomic Laboratory, Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada., Kobbe R; Department of Pediatrics, University Medical Centre Hamburg, Hamburg, Germany., Hautala T; Department of Internal Medicine, Oulu University Hospital, Oulu, Finland., Atschekzei F; Division of Immunology and Rheumatology, Hannover Medical University, Hannover, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany., Schmidt RE; Division of Immunology and Rheumatology, Hannover Medical University, Hannover, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany., Schröder C; Division of Immunology and Rheumatology, Hannover Medical University, Hannover, Germany., Stepensky P; Bone Marrow Transplantation Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Shadur B; Bone Marrow Transplantation Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Immunology, Garvan Institute of Medical Research, and University of New South Wales, Graduate Research School, Sydney, Australia., Pedroza LA; Colegio de ciencias de la salud-Hospital de los Valles and Instituto de Microbiología, Universidad San Francisco de Quito, Quito, Ecuador; Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Houston, Tex., van der Flier M; Department of Pediatric Infectious Diseases & Immunology and Nijmegen Institute for Infection, Immunity and Inflammation, Radboud University Medical Centre, Nijmegen, The Netherlands., Martínez-Gallo M; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Spain; Jeffrey Model Foundation Excellence Center, Barcelona, Spain., Gonzalez-Granado LI; Primary Immunodeficiencies Unit, Pediatrics, School of Medicine, Complutense University, 12 de Octubre Health Research Institute (imas12), Madrid, Spain., Allende LM; Immunology Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Shcherbina A; Department of Clinical Immunology, Dmitry Rogachev Federal Research and Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Kuzmenko N; Department of Clinical Immunology, Dmitry Rogachev Federal Research and Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Zakharova V; Department of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical and Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Neves JF; Primary Immunodeficiencies Unit, Hospital Dona Estefania, Centro Hospitalar de Lisboa Central, Lisbon, Portugal., Svec P; Department of Paediatric Haematology and Oncology, Haematopoietic Stem Cell Transplantation Unit, Comenius University Children's Hospital, Bratislava, Slovakia., Fischer U; Department of Paediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Ip W; Department of Immunology and Molecular and Cellular Immunology Unit, Great Ormond Street Hospital & University College London (UCL), Great Ormond Street Institute of Child Health, London, United Kingdom., Bartsch O; Institute of Human Genetics, Medical Centre of the Johannes Gutenberg University, Mainz, Germany., Barış S; Department of Pediatrics, Division of Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey., Klein C; Department of Pediatrics, Dr von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Geha R; Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass., Chou J; Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass., Alosaimi M; Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass., Weintraub L; Divisions of Pediatric Hematology/Oncology, Albany Medical Center, Albany, NY., Boztug K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Department of Pediatrics and Adolescent Medicine and St Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria., Hirschmugl T; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Department of Pediatrics and Adolescent Medicine and St Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria., Dos Santos Vilela MM; Laboratory of Pediatric Immunology, Center for Investigation in Pediatrics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, Brazil., Holzinger D; Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany., Seidl M; Center for Chronic Immunodeficiency and Molecular Pathology, Department of Pathology, University Medical Center, University of Freiburg, Freiburg, Germany., Lougaris V; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST- Spedali Civili of Brescia, Brescia, Italy., Plebani A; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST- Spedali Civili of Brescia, Brescia, Italy., Alsina L; Pediatric Allergy and Clinical Immunology Department and Institut de Recerca, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Piquer-Gibert M; Pediatric Allergy and Clinical Immunology Department and Institut de Recerca, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Deyà-Martínez A; Pediatric Allergy and Clinical Immunology Department and Institut de Recerca, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Slade CA; Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Melbourne, Australia., Aghamohammadi A; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran., Abolhassani H; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden., Hammarström L; Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden., Kuismin O; PEDEGO Research Unit, Medical Research Center Oulu, and University of Oulu and Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland., Helminen M; Tampere Center for Child Health Research, University of Tampere and Tampere University Hospital, Tampere, Finland., Allen HL; Department of Haematology, University of Cambridge, Cambridge, United Kingdom; NHS Blood and Transplant Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Thaventhiran JE; Department of Medicine, University of Cambridge, Cambridge, United Kingdom., Freeman AF; Laboratory of Clinical Immunology and Microbiology, NIAID, National Institutes of Health, Bethesda, Md., Cook M; Australian National University Medical School and John Curtin School of Medical Research, Australian National University, Acton, Australia; Department of Immunology, Canberra Hospital, Canberra, Australia., Bakhtiar S; Division for Pediatric Stem-Cell Transplantation and Immunology, University Hospital Frankfurt, Frankfurt/Main, Germany., Christiansen M; International Center for Immunodeficiency Diseases and Department of Clinical Immunology, Aarhus University Hospital Skejby, Aarhus, Denmark., Cunningham-Rundles C; Division of Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, NY., Patel NC; Department of Pediatrics, Section of Infectious Disease and Immunology, Levine Children's Hospital, Atrium Health, Charlotte, NC., Rae W; Southampton NIHR Wellcome Trust Clinical Research Facility and NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Department of Allergy, Asthma and Clinical Immunology, University Hospital Southampton, Southampton, United Kingdom., Niehues T; Department of Pediatric Hematology and Oncology, Helios Klinikum Krefeld, Krefeld, Germany., Brauer N; Department of Pediatric Hematology and Oncology, Helios Klinikum Krefeld, Krefeld, Germany., Syrjänen J; Department of Internal Medicine, Tampere University Hospital, Tampere, Finland., Seppänen MRJ; Rare Disease Center, New Children's Hospital and Adult immunodeficiency Unit, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Burns SO; Department of Immunology, Royal Free London NHS Foundation Trust, University College London Institute of Immunity and Transplantation, London, United Kingdom., Tuijnenburg P; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious diseases, Meibergdreef 9, Amsterdam, The Netherlands., Kuijpers TW; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Immunology, Rheumatology and Infectious diseases, Meibergdreef 9, Amsterdam, The Netherlands., Warnatz K; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS (Centre for Integrative Biological Signalling Studies), University of Freiburg, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital and University College London, London, United Kingdom; DZIF (German Center for Infection Research) Satellite Center Freiburg, Freiburg, Germany; Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: bodo.grimbacher@uniklinik-freiburg.de.
Publikováno v:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2020 Oct; Vol. 146 (4), pp. 901-911. Date of Electronic Publication: 2020 Apr 09.