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Commentary on Mosaic Copy Number Variation in a Patient with Cerebral and Pulmonary Arteriovenous Malformations and Recurrent Epistaxis.

Autor: Giersch ABS; Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States.

Publikováno v: Clinical chemistry [Clin Chem] 2024 Nov 04; Vol. 70 (11), pp. 1320.

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.

Autor: Trpchevska N; Department of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden., Freidin MB; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Broer L; Department of Internal Medicine, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands., Oosterloo BC; Department of Otorhinolaryngology, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands., Yao S; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden., Zhou Y; Department of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden., Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany; Department of Otolaryngology-Head & Neck Surgery, University of Tübingen Medical Center, 72076 Tübingen, Germany., Bishop C; Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, Jackson, MS 39216, USA., Bizaki-Vallaskangas A; Department of Otolaryngology, University of Tampere, 33100 Tampere, Finland; Pirkanmaan Sairaanhoitopiiri, 33520 Tampere, Finland., Canlon B; Department of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden., Castellana F; Unit of Data Sciences and Technology Innovation for Population Health, National Institute of Gastroenterology 'Saverio de Bellis', Research Hospital, Castellana Grotte, 70124 Bari, Italy., Chasman DI; Division of Preventative Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Cherny S; Department of Anatomy and Anthropology and Department of Epidemiology and Preventive Medicine, Sackler Faculty of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel., Christensen K; The Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark; Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, 5000 Odense C, Denmark., Concas MP; Institute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy., Correa A; Jackson Heart Study, The University of Mississippi Medical Center, Jackson, MS 39216, USA., Elkon R; Department of Human Molecular Genetics & Biochemistry, Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel., Mengel-From J; The Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark., Gao Y; Jackson Heart Study, The University of Mississippi Medical Center, Jackson, MS 39216, USA; Department of Population Health Science, University of Mississippi Medical Center, Jackson, MS 39216, USA., Giersch ABS; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Girotto G; Institute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34139 Trieste, Italy., Gudjonsson A; Icelandic Heart Association, 201 Kopavogur, Iceland., Gudnason V; Icelandic Heart Association, 201 Kopavogur, Iceland; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland., Heard-Costa NL; Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA; Framingham Heart Study, Framingham, MA 01702, USA., Hertzano R; Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland Baltimore, Baltimore, MD 21201, USA; Department of Anatomy and Neurobiology, University of Maryland Baltimore, Baltimore, MD 21201, USA; Institute for Genome Sciences, University of Maryland Baltimore, Baltimore, MD 21201, USA., Hjelmborg JVB; The Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark., Hjerling-Leffler J; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden., Hoffman HJ; Division of Scientific Programs, Epidemiology and Statistics Program, National Institute on Deafness and Other Communications Disorders (NIDCD), NIH, Bethesda, MD 20892, USA., Kaprio J; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland., Kettunen J; Computational Medicine, Center for Life Course Health Research, Faculty of Medicine, University of Oulu, 90220 Oulu, Finland; Biocenter Oulu, University of Oulu, 90220 Oulu, Finland; Finnish Institute for Health and Welfare, 00271 Helsinki, Finland., Krebs K; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Kähler AK; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden., Lallemend F; Department of Neuroscience, Karolinska Institutet, 17177 Stockholm, Sweden., Launer LJ; Laboratory of Epidemiology and Population Sciences, Intramural Research Program National Institute on Aging, Bethesda, MD 20892, USA., Lee IM; Division of Preventative Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA., Leonard H; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA; Data Tecnica International, Glen Echo, MD 20812, USA., Li CM; Division of Scientific Programs, Epidemiology and Statistics Program, National Institute on Deafness and Other Communications Disorders (NIDCD), NIH, Bethesda, MD 20892, USA., Lowenheim H; Department of Otolaryngology-Head & Neck Surgery, University of Tübingen Medical Center, 72076 Tübingen, Germany., Magnusson PKE; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden., van Meurs J; Department of Internal Medicine, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands., Milani L; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Morton CC; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Manchester Centre for Audiology and Deafness, University of Manchester, Manchester M13 9PL, UK., Mäkitie A; Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, 00029 Helsinki, Finland., Nalls MA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA; Data Tecnica International, Glen Echo, MD 20812, USA., Nardone GG; Institute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy., Nygaard M; The Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark., Palviainen T; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland., Pratt S; Department of Communication Science & Disorders, University of Pittsburgh, Pittsburgh, PA 15260, USA., Quaranta N; Otolaryngology Unit, Department of Basic Medical Science, Neuroscience and Sense Organs, University of Bari Aldo Moro, 70121 Bari, Italy., Rämö J; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland., Saarentaus E; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland., Sardone R; Unit of Data Sciences and Technology Innovation for Population Health, National Institute of Gastroenterology 'Saverio de Bellis', Research Hospital, Castellana Grotte, 70124 Bari, Italy., Satizabal CL; Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA; Framingham Heart Study, Framingham, MA 01702, USA; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases and Department of Population Health Sciences, University of Texas Health Sciences Center, San Antonio, TX 78229, USA., Schweinfurth JM; Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, Jackson, MS 39216, USA., Seshadri S; Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA; Framingham Heart Study, Framingham, MA 01702, USA; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases and Department of Population Health Sciences, University of Texas Health Sciences Center, San Antonio, TX 78229, USA., Shiroma E; Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Baltimore, MD 21224, USA., Shulman E; Department of Human Molecular Genetics & Biochemistry, Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel., Simonsick E; Longitudinal Studies Section, Translational Gerontology Branch, National Institute on Aging, Baltimore, MD 21224, USA., Spankovich C; Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, Jackson, MS 39216, USA., Tropitzsch A; Department of Otolaryngology-Head & Neck Surgery, University of Tübingen Medical Center, 72076 Tübingen, Germany., Lauschke VM; Department of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden., Sullivan PF; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden; Department of Genetics, University of North Carolina, Chapel Hill, NC 27516, USA., Goedegebure A; Department of Otorhinolaryngology, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands., Cederroth CR; Department of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden; National Institute for Health Research (NIHR) Nottingham Biomedical Research Centre, Nottingham University Hospitals NHS Trust, Ropewalk House, NG1 5DU Nottingham, UK; Hearing Sciences, Division of Clinical Neuroscience, School of Medicine, University of Nottingham, NG7 2UH Nottingham, UK. Electronic address: christopher.cederroth@ki.se., Williams FMK; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK., Nagtegaal AP; Department of Otorhinolaryngology, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Jun 02; Vol. 109 (6), pp. 1077-1091. Date of Electronic Publication: 2022 May 16.

Reporting of Diagnostic Cytogenetic Results.

Autor: Giersch ABS; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Bieber FR; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Dubuc AM; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Fletcher JA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Ligon AH; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Mason-Suares H; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Morton CC; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Weremowicz S; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Xiao S; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Cin PD; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

Publikováno v: Current protocols in human genetics [Curr Protoc Hum Genet] 2016 Apr 01; Vol. 89, pp. A.1D.1-A.1D.23. Date of Electronic Publication: 2016 Apr 01.