Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Tayoun AA"'
Autor:
Iwata-Otsubo A; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. aotsubo@med.umich.edu.; Department of Pathology, University of Michigan, 2800 Plymouth Rd, Ann Arbor, MI, 48109, USA. aotsubo@med.umich.edu., Skraban CM; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, 19104, USA., Yoshimura A; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, 113-0032, Japan., Sakata T; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, 113-0032, Japan., Alves CAP; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Fiordaliso SK; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Kuroda Y; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Vengoechea J; Department of Human Genetics, Emory University, Atlanta, GA, 30322, USA., Grochowsky A; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Ernste P; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Invitae, San Francisco, CA, 94103, USA., Lulis L; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Nesbitt A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Veritas Genetics, Danvers, MA, 01923, USA., Tayoun AA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Center for Genomic Discovery, Mohammed Bin Rashid University, Dubai Health, UAE., Gray C; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Towne MC; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Radtke K; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Normand EA; GeneDx, Gaithersburg, MD, 20877, USA., Rhodes L; GeneDx, Gaithersburg, MD, 20877, USA., Seiler C; Zebrafish Core, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Shirahige K; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, 113-0032, Japan., Izumi K; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. Kosuke.Izumi@UTsouthwestern.edu.; Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, 19104, USA. Kosuke.Izumi@UTsouthwestern.edu.; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, 113-0032, Japan. Kosuke.Izumi@UTsouthwestern.edu.; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX, 75390-8573, USA. Kosuke.Izumi@UTsouthwestern.edu.
Publikováno v:
Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 437-453. Date of Electronic Publication: 2024 Mar 23.
Autor:
Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Talouarn E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Marchal A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Manry J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Bolze A; Helix, San Mateo, CA, USA., Chaldebas M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Milisavljevic B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Barzaghi F; Department of Paediatric Immunohematology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Abolhassani H; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, Iran., Tayoun AA; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Aiuti A; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCSS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Darazam IA; Infectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Allende LM; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Alonso-Arias R; Immunology Department, Hospital Universitario Central de Asturias, Oviedo, Spain., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Microbiology and Parasitology, Primary Immunodeficiencies Group, School of Medicine, University of Antioquia UdeA, 050010, Medellin, Colombia.; School of Microbiology, University of Antioquia UdeA, 050010, Medellin, Colombia., Aytekin G; Deparment of Internal Medicine, Division of Allergy and Immunology, Konya City Hospital, Konya, Turkey., Bergman P; Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Division of Clinical Immunology, Stockholm, Sweden., Bondesan S; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Bryceson YT; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Bustos IG; Universidad de La Sabana, Chía, Colombia., Cabrera-Marante O; Institute of Biomedical Research of IdiPAZ, University Hospital 'La Paz', Madrid, Spain., Carcel S; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Carrera P; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Casari G; Division of Genetics and Cell Biology, Genome-Phenome Relationship, San Raffaele Hospital, Milan, Italy.; School of Medicine, Vita-Salute San Raffaele University, Milan, Italy., Chaïbi K; Anesthesiology and Critical Care Medicine Department, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France.; Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France., Colobran R; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Genetics Department, Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain., Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil., Covill LE; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Zein LE; Biology Department, Lebanese University, Beirut, Lebanon., Flores C; Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Carlos III Health Institute, Madrid, Spain.; Research Unit, University Hospital of Ntra. Sra. de Candelaria, Santa Cruz de Tenerife, Spain.; Faculty of Health Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Gregersen PK; Feinstein Institute for Medical Research, Northwell Health USA, Manhasset, NY, USA., Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Haerynck F; Department of Internal Diseases and Pediatrics, Primary Immune Deficiency Research Laboratory, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent, Belgium., Halwani R; Sharjah Institute for Medical Research, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates., Hancerli S; Department of Pediatrics (Infectious Diseases), Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hammarström L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Hatipoğlu N; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Karbuz A; Department of Pediatric Infectious Disease, Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey., Keles S; Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey., Kyheng C; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Leon-Lopez R; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Franco JL; Primary Immunodeficiencies Group, School of Microbiology, University of Antioquia UdeA, Medellin, Colombia., Mansouri D; The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Martinez-Picado J; IrsiCaixa AIDS Research Institute and Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Department of Infectious Diseases and Immunity, University of Vic-Central University of Catalonia, Vic, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Consorcio Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain., Akcan OM; Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey., Migeotte I; Centre de Génétique Humaine de L'Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium., Morange PE; Laboratory of Haematology, La Timone Hospital, Marseille, France.; C2VN, INSERM, INRAE, Aix-Marseille University, Marseille, France., Morelle G; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Martin-Nalda A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Novelli G; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Ozcelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Palabiyik F; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., de Diego RP; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, University Hospital 'La Paz', Madrid, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Pleguezuelo DE; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Prando C; Faculdades Pequeno Príncipe, Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil., Pujol A; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Reyes LF; University of La Sabana, Chía, Colombia., Rivière JG; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Rodriguez-Gallego C; Department of Immunology, University Hospital of Gran Canaria Dr. Negrin, Canarian Health System, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Rojas J; Primary Immunodeficiencies Group, School of Microbiology, University of Antioquia UdeA, Medellin, Colombia., Rovere-Querini P; Vita-Salute San Raffaele University, Milan, Italy.; Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Sobh A; Department of Pediatrics, Mansoura University Children's Hospital, Mansoura University Faculty of Medicine, Mansoura, Egypt., Soler-Palacin P; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Tandjaoui-Lambiotte Y; Hypoxia and Lung, INSERM U1272, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France., Tipu I; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Tresoldi C; Division of Immunology, Transplantation and Infectious Diseases, IRCCS Ospedale San Raffaele, Milan, Italy., Troya J; Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain., van de Beek D; Department of Neurology, Amsterdam UMC, Amsterdam Neuroscience, Amsterdam, Netherlands., Zatz M; Biosciences Institute, University of São Paulo, São Paulo, Brazil., Zawadzki P; MNM Bioscience Inc, Cambridge, MA, USA.; Faculty of Physics, Adam Mickiewicz University, Poznan, Poland., Al-Muhsen SZ; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alosaimi MF; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alsohime FM; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Baris-Feldman H; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Butte MJ; Departments of Pediatrics and Microbiology, Immunology, and Molecular Genetics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, USA., Constantinescu SN; Ludwig Institute for Cancer Research, Brussels, Belgium.; SIGN Unit, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; WELBIO (Walloon Excellence in Life Sciences and Biotechnology), Brussels, Belgium.; Nuffield Department of Medicine, Ludwig Institute for Cancer Research, Oxford University, Oxford, UK., Cooper MA; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO, USA., Dalgard CL; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, USA.; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Fellay J; School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.; Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Precision Medicine Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Heath JR; Institute for Systems Biology, Seattle, WA, USA., Lau YL; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China., Lifton RP; Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, USA., Maniatis T; Zukerman Mind Brain Behavior Institute, Columbia University, New York, NY, USA.; New York Genome Center, New York, NY, USA., Mogensen TH; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark., von Bernuth H; Department of Paediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany., Lermine A; Laboratoire de Biologie Médicale Multisites Seqoia, MG2025, MG2025, Paris, France., Vidaud M; Laboratoire de Biologie Médicale Multisites Seqoia, MG2025, MG2025, Paris, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Nussbaum R; Invitae, San Francisco, CA, USA., Kahn-Kirby A; Invitae, San Francisco, CA, USA., Mentre F; Unité de Recherche Clinique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France., Tubiana S; Centre d'Investigation Clinique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France., Gorochov G; Département d'immunologie, INSERM Centre d'Immunologie Et Des Maladies Infectieuses CIMI-Paris, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France., Tubach F; Département de Santé Publique, Unité de Recherche Clinique PSL-CFX, CIC-1901, Institut Pierre Louis d'Epidémiologie Et de Santé Publique, INSERM, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France., Hausfater P; Emergency Department, Hôpital Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France.; GRC-14 BIOFAST Sorbonn Université, UMR INSERM 1166, IHU ICAN, Sorbonne Université, Paris, France., Meyts I; Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Notarangelo LD; Laboratory of Host Defenses, NIAID, National Institutes of Health, Bethesda, MA, USA., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. casanova@rockefeller.edu.; University Paris Cité, Imagine Institute, Paris, France. casanova@rockefeller.edu.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu.; Howard Hughes Medical Institute, New York, NY, USA. casanova@rockefeller.edu., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. aurelie.cobat@inserm.fr.; University Paris Cité, Imagine Institute, Paris, France. aurelie.cobat@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. aurelie.cobat@inserm.fr.
Publikováno v:
Genome medicine [Genome Med] 2024 Jan 06; Vol. 16 (1), pp. 6. Date of Electronic Publication: 2024 Jan 06.
Autor:
Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Kashyape PS; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Jain R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., El Naofal M; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Tayoun AA; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Nov; Vol. 191 (11), pp. 2723-2727. Date of Electronic Publication: 2023 Sep 05.
Autor:
AboAlEla HH; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Ali AY; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Al-Sharif GA; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Abuhammour W; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Tayoun AA; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Almoosa M; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Uribe DA; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Al-Fraihat A; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Ho SB; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Department of Medicine, Mediclinic City Hospital, Dubai, United Arab Emirates., Khamis AH; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Hamdan Bin Mohammed College of Dental Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Popatia R; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Amana Healthcare, Dubai, United Arab Emirates., Yavuz L; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.
Publikováno v:
Pediatric pulmonology [Pediatr Pulmonol] 2023 Oct; Vol. 58 (10), pp. 2930-2940. Date of Electronic Publication: 2023 Aug 10.
Autor:
Kaur M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Blair J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Devkota B; Illumina Inc, San Diego, California, USA., Fortunato S; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Clark D; Natera, Inc., Austin, Texas, USA., Lawrence A; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kim J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Do W; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Semeo B; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Katz O; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mehta D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Yamamoto N; Division of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan., Schindler E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Al Rawi Z; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Wallace N; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Wilde JJ; Emugen Therapeutics, Woburn, Massachusetts, USA., McCallum J; Department of Cancer Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Liu J; Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Xu D; Hematologics Inc, Seattle, Washington, USA., Jackson M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rentas S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA., Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; 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Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2113-2131. Date of Electronic Publication: 2023 Jun 28.
Autor:
Yavuz L; Al Jalila General Pediatric Department, Al Jalila Children's Hospital, Dubai, United Arab Emirates. osmanlames@hotmail.com.; Al Jalila Children's Specialty Hospital, Al Jaddaf Street, PO Box 7662, Dubai, 7662, United Arab Emirates. osmanlames@hotmail.com., AlHamdani S; Al Jalila General Pediatric Department, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Alasrawi S; Al Jalila Children's Heart Center of excellence, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Wafadari D; Al Jalila General Pediatric Department, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Al-Fraihat A; Al Jalila Residency Program, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Bebars MA; Pediatric Department, Dubai Hospital, Dubai, United Arab Emirates., Nath J; Al Jalila General Pediatric Department, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Arango D; Al Jalila Pediatric Intensive Care Unit, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Pallavidino M; Al Jalila Pediatric Intensive Care Unit, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Jain R; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Yavuz S; Al Qasimi General Pediatric Department, Al Qasimi Women and Children's Hospital, Sharjah, United Arab Emirates., AlAwadhi M; Al Jalila General Pediatric Department, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Alkhayat A; Al Jalila General Pediatric Department, Al Jalila Children's Hospital, Dubai, United Arab Emirates., Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Abuhammour WM; Al Jalila Infectious Disease Department, Al Jalila Children's Hospital, Dubai, United Arab Emirates.
Publikováno v:
Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Jun 29; Vol. 21 (1), pp. 64. Date of Electronic Publication: 2023 Jun 29.
Autor:
Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Zhang P, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, Pérez de Diego R, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland A, Deleuze JF, Nussbaum R, Kahn-Kirby A, Mentre F, Tubiana S, Gorochov G, Tubach F, Hausfater P, Meyts I, Zhang SY, Puel A, Notarangelo LD, Boisson-Dupuis S, Su HC, Boisson B, Jouanguy E, Casanova JL, Zhang Q, Abel L, Cobat A
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2022 Oct 25. Date of Electronic Publication: 2022 Oct 25.
Autor:
Weidinger P; Viral Zoonoses, Emerging and Vector-Borne Infections Group, Institute of Virology, University of Veterinary Medicine, Vienna, Austria., Kolodziejek J; Viral Zoonoses, Emerging and Vector-Borne Infections Group, Institute of Virology, University of Veterinary Medicine, Vienna, Austria., Camp JV; Viral Zoonoses, Emerging and Vector-Borne Infections Group, Institute of Virology, University of Veterinary Medicine, Vienna, Austria.; Center for Virology, Medical University of Vienna, Vienna, Austria., Loney T; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Kannan DO; Al Ain City Municipality, Al Ain, United Arab Emirates., Ramaswamy S; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Tayoun AA; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Corman VM; Institute of Virology, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, and German Centre for Infection Research (DZIF), Partner Site Charité, Berlin, Germany., Nowotny N; Viral Zoonoses, Emerging and Vector-Borne Infections Group, Institute of Virology, University of Veterinary Medicine, Vienna, Austria.; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.
Publikováno v:
Transboundary and emerging diseases [Transbound Emerg Dis] 2022 Sep; Vol. 69 (5), pp. 3066-3072. Date of Electronic Publication: 2021 Sep 08.
Autor:
Li MM; Department of Pathology and Laboratory Medicine, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA., Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Mohammed Bin Rashid University, Dubai, United Arab Emirates., DiStefano M; Precision Health Program, Geisinger, Danville, PA., Pandya A; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Robin NH; Departments of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Schaefer AM; Department of Otolaryngology-Head & Neck Surgery, Molecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, IA., Yoshinaga-Itano C; Institute of Cognitive Science, University of Colorado, Boulder, CO.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jul; Vol. 24 (7), pp. 1392-1406. Date of Electronic Publication: 2022 May 10.