Zobrazeno 1 - 10
of 2 917
pro vyhledávání: '"Shashi V"'
Autor:
McNamee L; UNC-Greensboro Genetic Counseling Program, Greensboro, North Carolina, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Huang A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA.; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA., Lee H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA., Wang LK; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA., Smith EC; Division of Pediatric Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Lark RK; Department of Orthopedics, Duke University Medical Center, Durham, North Carolina, USA., Buckley AF; Department of Pathology, Duke University Medical Center, Durham, North Carolina, USA., Jobanputra V; Department of Pathology and Cell Biology, Columbia University, New York, New York, USA.; New York Genome Center, New York, New York, USA., Nelson SF; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA.; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA.; Department of Pediatrics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63798. Date of Electronic Publication: 2024 Jun 24.
Autor:
Stafford-Smith B; Centre for Medical Education, Cardiff University, Cardiff, UK.; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., McAlister M; Centre for Medical Education, Cardiff University, Cardiff, UK., Walley N; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.
Publikováno v:
Journal of genetic counseling [J Genet Couns] 2024 Apr 01. Date of Electronic Publication: 2024 Apr 01.
Autor:
Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Schoch K; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Walley N; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Alkelai A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA., Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Predictive Sciences, Bristol Myers Squibb, Summit, New Jersey, USA., Shea PR; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Genomics and Bioinformatics Analysis Resource, Columbia University, New York, New York, USA., Petrovski S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia., Jobanputra V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., McConkie-Rosell A; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Jan; Vol. 105 (1), pp. 62-71. Date of Electronic Publication: 2023 Oct 18.
Autor:
Sandal P; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Biologics Discovery, Abbott Laboratories, 100 Abbott Park Road, Abbott Park, IL 60064, United States., Jong CJ; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States., Merrill RA; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Department of Molecular Physiology and Biophysics, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States., Kollman GJ; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States., Paden AH; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States., Bend EG; PreventionGenetics, Part of Exact Sciences, 3800 S Business Park Ave, Marshfield, WI 54449, United States., Sullivan J; Department of Pediatrics, University of North Carolina Chapel Hill, 260 MacNider Hall, CB# 7220, 333 South Columbia St., Chapel Hill, NC 27599-7220, United States.; Department of Pediatrics - Medical Genetics, Duke University Medical Center, DUMC Box 103857, Durham, NC 27710, United States., Spillmann RC; Department of Pediatrics - Medical Genetics, Duke University Medical Center, DUMC Box 103857, Durham, NC 27710, United States., Shashi V; Department of Pediatrics - Medical Genetics, Duke University Medical Center, DUMC Box 103857, Durham, NC 27710, United States., Vulto-van Silfhout AT; Department of Clinical Genetics, Maastricht University Medical Center, P. Debyelaan 25, Maastricht 6229 HX, the Netherlands.; Department. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., Pfundt R; Department. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., de Vries BBA; Department. of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., Li PP; Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, 600 N Wolfe St, CMSC 8-117, Baltimore, MD 21287, United States., Bicknell LS; Department of Biochemistry, University of Otago, 710 Cumberland St., Dunedin North, Dunedin 9016, New Zealand., Strack S; Department of Neuroscience and Pharmacology, University of Iowa, Carver College of Medicine, Bowen Science Building, 51 Newton Road, Iowa City, IA 52242, United States.; Iowa Neuroscience Institute, Intellectual and Developmental Disabilities Research Center, University of Iowa, Carver College of Medicine, Iowa City, IA 52242, United States.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Nov 20. Date of Electronic Publication: 2024 Nov 20.
Autor:
Calianese DC; Laboratory of Biochemistry and Immunology, World Premier International Research Center, Immunology Frontier Research Center, Osaka University, Suita, Osaka 565-0871, Japan., Noji T; Theoretical Chemistry, Research Center for Advanced Science and Technology, The University of Tokyo, Tokyo 153-8904, Japan., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27705., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27705., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27705., McNiven V; Fred A Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, ON M5T 3L9, Canada.; Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada., Ramos LLP; Molecular Neurogenomics group, Vlaams Instituut voor Biotechnologie Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2000, Belgium.; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria., Jordanova A; Molecular Neurogenomics group, Vlaams Instituut voor Biotechnologie Center for Molecular Neurology, Vlaams Instituut voor Biotechnologie, Antwerp 2610, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2000, Belgium.; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria., Kárteszi J; Genetic Counselling, St. Raphael Hospital of Zala Castle-county, Zalaegerszeg 8900, Hungary., Ishikita H; Theoretical Chemistry, Research Center for Advanced Science and Technology, The University of Tokyo, Tokyo 153-8904, Japan., Nagata S; Laboratory of Biochemistry and Immunology, World Premier International Research Center, Immunology Frontier Research Center, Osaka University, Suita, Osaka 565-0871, Japan.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Oct 29; Vol. 121 (44), pp. e2415755121. Date of Electronic Publication: 2024 Oct 21.
Autor:
Ochoa S; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Hsu AP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD 20892, USA., Kumar D; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Chauss D; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., van Hamburg JP; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., van Laar GG; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., Oikonomou V; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Ganesan S; Biological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD 20892, USA., Ferré EMN; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Schmitt MM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., DiMaggio T; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Barber P; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Constantine GM; Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, MD 20892, USA., Rosen LB; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Auwaerter PG; Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Gandhi B; Division of Internal Medicine-Pediatrics, Department of Medicine, Medstar Georgetown University Hospital, Washington, DC 20007, USA., Miller JL; Division of Pediatric Endocrinology, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Eisenberg R; Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA., Rubinstein A; Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA.; Department of Microbiology and Immunology, Montefiore Medical Center, Bronx, NY 10467, USA., Schussler E; Division of Pulmonary, Allergy, and Immunology, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10065, USA., Balliu E; Department of Endocrinology, Diabetes and Metabolism, Lakeland Regional Health Grasslands Campus, Lakeland, FL 33803, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.; Undiagnosed Diseases Network, Duke University Medical Center, Durham, NC 27710, USA., Neth O; Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, 'Red de Investigación Translacional en Infectología Pediátrica,' Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain., Olbrich P; Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, 'Red de Investigación Translacional en Infectología Pediátrica,' Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain.; Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Seville 41004, Spain., Le KM; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Mamia N; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Laakso S; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.; Folkhälsan Research Center, Helsinki 00250, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland., Nevalainen PI; JJP Biologics, Warsaw 00-728, Poland., Grönholm J; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Seppänen MRJ; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.; European Reference Network Rare Immunodeficiency Autoinflammatory and Autoimmune Diseases Network (ERN RITA) Core Center, Utrecht, 3584 CX, Netherlands., Boon L; JJP Biologics, Warsaw 00-728, Poland., Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Franco LM; Functional Immunogenomics Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA., Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Winer KK; Pediatric Growth and Nutrition Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA., Ghosh R; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Seifert BA; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Walkiewicz M; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Zhou Q; Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Askentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Gahl W; Medical Genetics Branch, National Human Genome Research Institute, and NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA., Dalgard CL; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.; American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA., Perera L; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA., Afzali B; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Tas SW; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Lionakis MS; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Publikováno v:
Science translational medicine [Sci Transl Med] 2024 Sep 18; Vol. 16 (765), pp. eadk0845. Date of Electronic Publication: 2024 Sep 18.
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Autor:
Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France., Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Conboy E; Indiana University School of Medicine, Indianapolis, IN, USA., Vetrini F; Indiana University School of Medicine, Indianapolis, IN, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany., Grace AN; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA., Mitchell B; Baylor College of Medicine in San Antonio, San Antonio, TX, USA., Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Meeks N; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA., Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA., Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Van-Gils J; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., de Sainte-Agathe JM; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA., Weisz-Hubshman M; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA., Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Harder S; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK., Turro E; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de.
Publikováno v:
Nature communications [Nat Commun] 2024 Sep 10; Vol. 15 (1), pp. 7909. Date of Electronic Publication: 2024 Sep 10.
Autor:
McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., Walley N; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA., Hooper SR; Department of Allied Health Sciences, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.
Publikováno v:
Journal of genetic counseling [J Genet Couns] 2023 Oct; Vol. 32 (5), pp. 993-1008. Date of Electronic Publication: 2023 Apr 02.
Autor:
Banks E; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Francis V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Kharfallah F; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Fonov V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Lévesque M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Han C; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Kulasekaran G; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Tuznik M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Bayati A; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Al-Khater R; Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Argyriou L; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Bahlo M; Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, Australia., Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran., Barr E; Department of Human Genetics, Emory University, Atlanta, GA, USA., Bartik L; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Bassiony M; Faculty of Medicine, Alexandria University, Alexandria, Egypt., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Budetta M; Paediatric and Child Neurology Unit, Cava de' Tirreni AOU S. Giovanni di Dio e Ruggiero d'Aragona Hospital, Salerno, Italy., Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Calame DG; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Cushing D; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada., Efthymiou S; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt., El Said HG; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt., Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan., Gill HK; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada., Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Gogoll L; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Goh ES; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hauser S; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany., Hoffman TL; Department of Regional Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Hogue JS; Madigan Army Medical Center, Tacoma, WA, USA., Hosokawa A; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Houlden H; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Huynh S; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Kaulfuß S; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany., Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lee H; 3billion Inc, Seoul, South Korea., Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, 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., Marco EJ; Cortica Healthcare, San Rafael, CA, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Minassian A; Centre for Applied Genomics, Genetics, and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada., Minassian BA; Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA., Murphy D; Department of Clinical and Movement Neurosciences, University College London (UCL) Queen Square Institute of Neurology, London, UK., Neira-Fresneda J; Department of Human Genetics, Emory University, Atlanta, GA, USA., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Oehl-Jaschkowitz B; BIOSCIENTIA-MVZ-Labor-Saar-Practice of Human Genetics, Homburg (Saar), Germany., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Person R; GeneDx, Gaithersburg, MD, USA., Pehlivan D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Saunders C; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Center for Pediatric Genomic Medicine Children's Mercy, Kansas City, MO, USA., Schoels L; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Tos T; Department of Medical Genetics, University of Health Sciences, Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Ankara, Turkey., Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Zhou D; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, QC, Canada., Durcan TM; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Gan-Or Z; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada., Avoli M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Alves C; Division of Neuroradiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Maroofian R; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Rudko DA; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; McConnell Brain Imaging Centre, the Neuro, Montréal, QC, Canada.; Department of Biomedical Engineering, McGill University, Montréal, QC, Canada., McPherson PS; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada. peter.mcpherson@mcgill.ca.
Publikováno v:
Nature communications [Nat Commun] 2024 Aug 22; Vol. 15 (1), pp. 7239. Date of Electronic Publication: 2024 Aug 22.
Autor:
Karayol R; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Namasivayam A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Reilly J; Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, ON N6A 3K7, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Shvedunova M; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Petersen AK; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Magnussen K; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Mulligan MR; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Poke G; Genetic Health Service New Zealand, Wellington, New Zealand., Abu-El-Haija A; Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Duis J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Hannig V; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA., van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Hamiel U; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., Henig N; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel., Baris Feldman H; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Lei Y; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA., Todorova A; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Yordanova R; Department of pediatrics 'Prof. Ivan Andreev', Medical university - Plovdiv, Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria., Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Rogac M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Peron A; SOC Genetica Medica, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy., Iascone M; Department of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Canevini MP; Epilepsy Center - Sleep Medicine Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy., Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Reyes IA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Kierstein J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, UC Davis, Sacramento, CA 95817, USA., Ahmed FN; Division of Genomic Medicine, Department of Pediatrics, UC Davis, Sacramento, CA 95817, USA., Mao X; National Health Commission Key Laboratory of Birth Defects Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China; Nanhua University, Chiayi County, Taiwan., Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, German., Treu AB; Epilepsy Center Kleinwachau, Radeberg, Germany., Quilichini J; Service de Médecine Génomique des maladies de système et d'organe, APHP, Centre Université Paris Cité, Paris, France., Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France., Chatron N; Department of Genetics, Lyon University Hospital, Lyon, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Januel L; Department of Genetics, Lyon University Hospital, Lyon, France., Rougeot C; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Rousseau J; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Myers KA; Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Akhtar A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany. Electronic address: akhtar@ie-freiburg.mpg.de., Campeau PM; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1330-1351. Date of Electronic Publication: 2024 May 29.