Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Autor: Hamilton, Em, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, Ab, Blumkin, L, H-ABC Research Group, Battini, R, Van Berkel CG, Waisfisz, Q, Simons, C, Taft, Rj, Abbink, Te, Wolf, Ni, Van Der Knaap MS

Publikováno v: Brain, 137, 1921-1930. Oxford University Press
Hamilton, E M C, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, A B, Blumkin, L, van Berkel, C G M, Waisfisz, Q, Simons, C, Taft, R J, Abbink, G E M, Wolf, N I & van der Knaap, M S 2014, ' Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation ', Brain, vol. 137, pp. 1921-1930 . https://doi.org/10.1093/brain/awu110

Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef6647507c694811c8414282d539971
https://europepmc.org/articles/PMC4345790/

MicroRNAs in β-cell biology, insulin resistance, diabetes and its complications.

Autor: Fernandez-Valverde SL, Taft RJ, Mattick JS, Fernandez-Valverde, Selene L, Taft, Ryan J, Mattick, John S

Publikováno v: Diabetes; Jul2011, Vol. 60 Issue 7, p1825-1831, 7p

Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

Autor: Bazalar-Montoya J; Instituto Nacional de Salud del Niño San Borja, Lima, Peru.; School of Public Health and Administration, Universidad Peruana Cayetano Heredia, Lima, Peru., Cornejo-Olivas M; Neurogenetics Working Group, Universidad Cientifica del Sur, Lima, Peru.; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru., Duenas-Roque MM; Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Purizaca-Rosillo N; Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Rodriguez RS; School of Public Health and Administration, Universidad Peruana Cayetano Heredia, Lima, Peru.; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru., Milla-Neyra K; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru., De La Torre-Hernandez CA; Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Sarapura-Castro E; Neurogenetics Working Group, Universidad Cientifica del Sur, Lima, Peru.; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru., Galarreta Aima CI; National Human Genome Research Institute (NHGRI), Bethesda, MD, USA., Manassero-Morales G; Instituto Nacional de Salud del Niño San Borja, Lima, Peru., Chávez-Pasco G; Instituto Nacional de Salud del Niño San Borja, Lima, Peru., Celis-García L; Instituto Nacional de Salud del Niño San Borja, Lima, Peru., La Serna-Infantes JE; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.; Instituto de Investigaciones en Ciencias Biomédicas (INICIB), Facultad de Medicina, Universidad Ricardo Palma, Lima, Peru., Chekalin E; Illumina Inc, San Diego, CA, USA., Thorpe E; Illumina Inc, San Diego, CA, USA.; Genetic Alliance, Damascus, MD, USA., Taft RJ; Illumina Inc, San Diego, CA, USA. rtaft@geneticalliance.org.; Genetic Alliance, Damascus, MD, USA. rtaft@geneticalliance.org.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2024 Oct 28; Vol. 9 (1), pp. 51. Date of Electronic Publication: 2024 Oct 28.

Germline mutations in a G protein identify signaling cross-talk in T cells.

Autor: Ham H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA., Jing H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Lamborn IT; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kober MM; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Koval A; Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland., Berchiche YA; Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA., Anderson DE; Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA., Druey KM; Lung and Vascular Inflammation Section, Laboratory of Allergic Diseases, DIR, NIAID, NIH, Bethesda, MD, USA., Mandl JN; Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France., Ferreira CR; Skeletal Genomics Unit, Metabolic Medicine Branch, DIR, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA., Freeman AF; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA., Ganesan S; Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA., Karsak M; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Mustillo PJ; Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University College of Medicine, Columbus, OH, USA., Teo J; Department of Haematology, The Children's Hospital Westmead, Sydney, New South Wales, Australia., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France., Lecoquierre F; Université de Rouen Normandie, INSERM U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, Rouen, France., Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA., Schmid JP; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.; Pediatric Immunology, University of Zurich, Zurich, Switzerland., Kuhns DB; Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Xu X; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA., Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität (LMU), Munich, Germany., Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait., Wagner M; Institute of Human Genetics, Technical University Munich, School of Medicine and Health, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University Hospital of Munich, Munich, Germany., Terhal PA; Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Muurinen M; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland., Barlogis V; APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.; Aix-Marseille University, EA 3279 Research Unit, Marseille, France., Cruz P; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA., Danielson J; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford, UK., Loid P; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland., Rading S; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Keren B; Genetic Departement, Assistance Publique - Hôpitaux de Paris.Sorbonne University, Paris, France.; SeqOIA Laboratory, FMG2025, Paris, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Zarember KA; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA., Vill K; LMU University Hospital, Department of Pediatrics, Division of Pediatric Neurology, iSPZ Hauner MUC - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, Munich, Germany., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Olivier KN; Pulmonary Branch, Division of Intramural Research, DIR, National Heart Lung and Blood Institute (NHLBI), NIH, Bethesda, MD, USA., Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France., Faivre L; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Wong M; Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, NSW, Australia., Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France., Chou J; Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States., Tusseau M; Genetics Department, Lyon University Hospital, Lyon, France.; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France., Moutsopoulos NM; Oral Immunity and Infection Section, DIR, National Institute of Dental and Craniofacial Research (NIDCR), NIH, Bethesda, MD, USA., Matthews HF; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Taft RJ; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.; Illumina, San Diego, CA, USA., Soldatos A; National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD, USA., Masle-Farquhar E; Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia., Pittaluga S; Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD, USA., Brink R; St. Vincent's Clinical School, UNSW, Sydney, NSW, Australia.; B Cell Biology Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia., Fink DL; Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Kong HH; Cutaneous Microbiome and Inflammation Section, Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA., Kabat J; Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA., Kim WS; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Meguro K; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Hsu AP; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA., Gu J; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA., Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA., Banos-Pinero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK., Slack M; Division of Allergy and Immunology, Department of Pediatrics, University of Rochester Medical Center and Golisano Children's Hospital, Rochester, NY, USA., Trivellin G; Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA., Mazel B; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France., Soomann M; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland., Li S; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA., Watts VJ; Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, IN, USA., Stratakis CA; Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA., Rodriguez-Quevedo MF; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA., Bruel AL; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lipsanen-Nyman M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Saultier P; APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.; Aix-Marseille University, INSERM, National Research Institute for Agriculture, Food and Environment (INRAe), Cardiovascular and Nutrition Research Center (C2VN), Marseille, France., Jain R; Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Lehalle D; AP-HP Sorbonne Université, UF de Génétique Clinique, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Hôpital Trousseau, Paris, France., Torres D; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Sullivan KE; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Barbarot S; Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes Université, Nantes, France., Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Duffourd Y; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Similuk M; Centralized Sequencing Program, DIR, NIAID, NIH, Bethesda, MD, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Blanc P; SeqOIA Laboratory, FMG2025, Paris, France., Bézieau S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France., Jin T; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA., Geha RS; Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France., Makitie OM; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Edery P; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France., Christodoulou J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Specialty of Child and Adolescent Health, University of Sydney, Sydney, Australia., Germain RN; Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA., Goodnow CC; Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Cellular Genomics Futures Institute, Sydney, NSW, Australia., Sakmar TP; Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA.; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, Stockholm, Sweden., Billadeau DD; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA., Küry S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France., Katanaev VL; Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland.; Institute of Life Sciences and Biomedicine, Far Eastern Federal University, Vladivostok, Russia., Zhang Y; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Lenardo MJ; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA., Su HC; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Publikováno v: Science (New York, N.Y.) [Science] 2024 Sep 20; Vol. 385 (6715), pp. eadd8947. Date of Electronic Publication: 2024 Sep 20.

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

Autor: Thorpe E; Illumina Inc, San Diego, CA, USA., Williams T; Genetic and Genomic Services PBC, Houston, TX, USA., Shaw C; Genetic and Genomic Services PBC, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Statistics, Rice University, Houston, TX, USA., Chekalin E; Illumina Inc, San Diego, CA, USA., Ortega J; Illumina Inc, San Diego, CA, USA; C2N Diagnostics, St. Louis, MO, USA., Robinson K; Illumina Inc, San Diego, CA, USA., Button J; Illumina Inc, San Diego, CA, USA., Jones MC; Rady Children's Hospital, San Diego, CA, USA; University of California, San Diego, San Diego, CA, USA., Campo MD; Rady Children's Hospital, San Diego, CA, USA; University of California, San Diego, San Diego, CA, USA., Basel D; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., McCarrier J; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Keppen LD; Sanford USD Medical Center, Sioux Falls, SD, USA., Royer E; Sanford Children's Specialty Clinics at Sanford Health, USD Sanford School of Medicine, Sioux Falls, SD, USA., Foster-Bonds R; Rare Genomics Institute, Los Angeles, CA, USA., Duenas-Roque MM; Servicio de Genética, Hospital Edgardo Rebagliati Martins - EsSalud, Lima, Peru., Urraca N; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Bosfield K; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Brown CW; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Lydigsen H; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Mroczkowski HJ; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Ward J; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy., Vaux K; Point Loma Pediatrics, San Diego, CA, USA., Salguero HP; Padrino Children's Foundation, Todos Santos, B.C.S., Mexico., Lumaka A; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo; Center for Human Genetics, Centre Hospitalier Universitaire, Liège, Belgium., Mubungu G; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Makay P; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Ngole M; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Lukusa PT; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Vanderver A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Muirhead K; Ambry Genetics, Aliso Viejo, CA, USA., Sherbini O; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lah MD; Indiana University School of Medicine, Indianapolis, IN, USA., Anderson K; Indiana University School of Medicine, Indianapolis, IN, USA., Bazalar-Montoya J; Instituto Nacional de Salud del Niño-San Borja, Lima, Peru., Rodriguez RS; Instituto Nacional de Salud del Niño-San Borja, Lima, Peru., Cornejo-Olivas M; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; Neurogenetics Working Group, Universidad Científica del Sur, Lima, Peru., Milla-Neyra K; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru., Shinawi M; Washington University, St. Louis, MO, USA; St. Louis Children's Hospital, St. Louis, MO, USA., Magoulas P; Texas Children's Hospital, Houston, TX, USA., Henry D; UCSF Benioff Children's Hospitals, San Francisco, CA, USA., Gibson K; Canterbury District Health Board, Canterbury, New Zealand., Wiafe S; Rare Disease Ghana Initiative, Accra, Ghana., Jayakar P; Nicklaus Children's Health System, Miami, FL, USA., Salyakina D; Nicklaus Children's Health System, Miami, FL, USA., Masser-Frye D; Rady Children's Hospital, San Diego, CA, USA; San Diego-Imperial Counties Developmental Services, Inc., San Diego, CA, USA., Serize A; South Miami Hospital, South Miami, FL, USA., Perez JE; South Miami Hospital, South Miami, FL, USA., Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Abou Tayoun A; 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., Malhotra A; Illumina Inc, San Diego, CA, USA., Bennett M; Illumina Inc, San Diego, CA, USA., Rajan V; Illumina Inc, San Diego, CA, USA; Veracyte, San Diego, CA, USA., Avecilla J; Illumina Inc, San Diego, CA, USA., Warren A; Illumina Inc, San Diego, CA, USA., Arseneault M; Illumina Inc, San Diego, CA, USA., Kalista T; Illumina Inc, San Diego, CA, USA., Crawford A; Illumina Inc, San Diego, CA, USA., Ajay SS; Illumina Inc, San Diego, CA, USA., Perry DL; Illumina Inc, San Diego, CA, USA., Belmont J; Genetic and Genomic Services PBC, Houston, TX, USA., Taft RJ; Illumina Inc, San Diego, CA, USA. Electronic address: rtaft@geneticalliance.org.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1271-1281. Date of Electronic Publication: 2024 Jun 05.