Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Taylor Tavares AL"'
Autor:
Greenhalgh L, Fowler T, Karen Temple, Kane Smith, Deshpande, Subramanian S. Ajay, Bourn D, Menzies L, James M. Polke, Pasko D, Polychronopoulos D, Augusto Rendon, Pietro Fratta, Madeleine Reilly, Daugherty L, Chitty Ls, Eggleton K, Raymond Fl, Thomas T. Warner, Paul Brennan, Sian Ellard, Denise L. Perry, Jill Davison, A. C. Need, Arianna Tucci, Prasad Korlipara Lv, Mark J. Caulfield, Meriel McEntagart, Huw R. Morris, Kikkeri N. Naresh, Jenny C. Taylor, Patrick F. Chinnery, Anette Schrag, Aditi Chawla, Deans Zc, Henry Houlden, Twiss P, Douglas A, Sheikh I, Jonathan M. Schott, Hill S, Moutsianas L, Nicholas W. Wood, Tanner Hagelstrom, Robinson R, D. Kasperaviciute, Faravelli F, Rajan, Kristina Ibáñez, Antonio Rueda Martin, Emma L. Baple, Robin Howard, Ellen M. McDonagh, Elisabeth Rosser, Oprych K, Richard Festenstein, John A. Sayer, Kailash P. Bhatia, Michael A. Eberle, Andrew D Mumford, Angus-Leppan H, Thomas E, Matilde Laura, McMullan D, Brittain H, Paola Giunti, Richard H. Scott, Wilson G, Taylor Tavares Al, Ryan J. Taft, Patch C, Hyder Z, Robyn Labrum, Almheiri G, Frances Flinter, Egor Dolzhenko, Santos L, Abbs S, William G. Newman, Jana Vandrovcova
BackgroundRepeat expansion (RE) disorders affect ~1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in under diagnosis of atypical clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::726e4fb0332468372a1aa969b249ce84
https://doi.org/10.1101/2020.11.06.371716
https://doi.org/10.1101/2020.11.06.371716
Autor:
Harasimov K; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK., Gorry RL; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Welp LM; Bioanalytical Mass Spectrometry Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Bioanalytics Group, Department of Clinical Chemistry, University Medical Center Göttingen, Göttingen, Germany., Penir SM; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Horokhovskyi Y; Quantitative and Systems Biology Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Cheng S; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Takaoka K; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Laboratory of Embryology, Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan., Stützer A; Bioanalytical Mass Spectrometry Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Frombach AS; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Taylor Tavares AL; Cell Biology Division, MRC Laboratory of Molecular Biology, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals, NHS Foundation Trust, Cambridge, UK., Raabe M; Bioanalytical Mass Spectrometry Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Haag S; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Translation Alliance Lower Saxony, Hannover, Braunschweig, Göttingen, Germany., Saha D; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Grewe K; Department for Neuro and Sensory Physiology, University Medical Center Göttingen, Göttingen, Germany.; Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany., Schipper V; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Rizzoli SO; Department for Neuro and Sensory Physiology, University Medical Center Göttingen, Göttingen, Germany.; Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany., Urlaub H; Bioanalytical Mass Spectrometry Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. henning.urlaub@mpinat.mpg.de.; Bioanalytics Group, Department of Clinical Chemistry, University Medical Center Göttingen, Göttingen, Germany. henning.urlaub@mpinat.mpg.de.; Cluster of Excellence Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells, University of Göttingen, Göttingen, Germany. henning.urlaub@mpinat.mpg.de., Liepe J; Quantitative and Systems Biology Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. juliane.liepe@mpinat.mpg.de., Schuh M; Department of Meiosis, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. melina.schuh@mpinat.mpg.de.; Cluster of Excellence Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells, University of Göttingen, Göttingen, Germany. melina.schuh@mpinat.mpg.de.
Publikováno v:
Nature cell biology [Nat Cell Biol] 2024 Jul; Vol. 26 (7), pp. 1124-1138. Date of Electronic Publication: 2024 Jun 20.
Autor:
Moore AR; Wellcome Centre for Human Genetics, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Yu J; Wellcome Centre for Human Genetics, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Pei Y; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Cheng EWY; Genomics England Limited, London, UK., Taylor Tavares AL; Genomics England Limited, London, UK., Walker WT; School of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.; PCD Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Thomas NS; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK., Kamath A; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Ibitoye R; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK., Josifova D; Department of Clinical Genetics, Guy's and St Thomas' Hospitals NHS Trust, London, UK., Wilsdon A; Clinical Genetics, Nottingham City Hospital, Nottingham, UK., Ross A; Clinical Genetics, NHS Grampian, Aberdeen, UK., Calder AD; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Offiah AC; Department of Oncology and Metabolism, The University of Sheffield, Sheffield, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Taylor JC; Wellcome Centre for Human Genetics, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Pagnamenta AT; Wellcome Centre for Human Genetics, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK alistair@well.ox.ac.uk.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1235-1244. Date of Electronic Publication: 2023 Nov 27.
Autor:
Choi DJ; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA., Armstrong G; Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA., Lozzi B; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA., Vijayaraghavan P; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA., Wong TC; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Boerwinkle E; The University of Texas Health Science Center School of Public Health, Houston, TX, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Chen HC; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Ostrom QT; Department of Neurosurgery, Duke University School of Medicine, Durham, NC, USA., Melin B; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden., Deneen B; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA., Bondy ML; Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA., Bainbridge MN; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M
Publikováno v:
Science advances [Sci Adv] 2023 Apr 28; Vol. 9 (17), pp. eade2675. Date of Electronic Publication: 2023 Apr 28.
Autor:
Seaby EG; Genomic Informatics Group, Human Development and Health, Faculty of Medicine, University Hospital Southampton, MP 808, Duthie Building, Southampton, SO16 6YD, Hampshire, UK. E.Seaby@soton.ac.uk.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. E.Seaby@soton.ac.uk.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA. E.Seaby@soton.ac.uk.; Paediatric Infectious Diseases, Imperial College London, London, W2 1NY, UK. E.Seaby@soton.ac.uk., Thomas NS; Genomic Informatics Group, Human Development and Health, Faculty of Medicine, University Hospital Southampton, MP 808, Duthie Building, Southampton, SO16 6YD, Hampshire, UK.; Wessex Regional Genomics Laboratory, Salisbury NHS Foundation Trust, Salisbury, SP2 8BJ, UK., Webb A; Wessex Regional Genomics Laboratory, Salisbury NHS Foundation Trust, Salisbury, SP2 8BJ, UK., Brittain H; Genomics England, Charterhouse Square, London, EC1M 6BQ, UK., Taylor Tavares AL; Genomics England, Charterhouse Square, London, EC1M 6BQ, UK.; East Anglian Medical Genetics Service, Cambridge University Hospital, Hills Road, Cambridge, CB2 0QQ, UK., Baralle D; Genomic Informatics Group, Human Development and Health, Faculty of Medicine, University Hospital Southampton, MP 808, Duthie Building, Southampton, SO16 6YD, Hampshire, UK., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA., Ennis S; Genomic Informatics Group, Human Development and Health, Faculty of Medicine, University Hospital Southampton, MP 808, Duthie Building, Southampton, SO16 6YD, Hampshire, UK.
Publikováno v:
Human genetics [Hum Genet] 2023 Mar; Vol. 142 (3), pp. 351-362. Date of Electronic Publication: 2022 Dec 07.
Autor:
Shoemark A; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, UK a.shoemark@dundee.ac.uk.; Royal Brompton Hospital and NHLI, Imperial College London, London, UK.; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK., Griffin H; Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK., Wheway G; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Hogg C; Royal Brompton Hospital and NHLI, Imperial College London, London, UK., Lucas JS; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK., Camps C; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Clinical Informatics Research Office, John Radcliffe Hospital, Oxford, UK., Taylor J; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Clinical Informatics Research Office, John Radcliffe Hospital, Oxford, UK., Carroll M; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Loebinger MR; Royal Brompton Hospital and NHLI, Imperial College London, London, UK., Chalmers JD; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, UK., Morris-Rosendahl D; Clinical Genetics and Genomics, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust and NHLI, Imperial College London, London, UK., Mitchison HM; Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.; These authors contributed equally to this manuscript., De Soyza A; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK.; These authors contributed equally to this manuscript., Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM
Publikováno v:
The European respiratory journal [Eur Respir J] 2022 Nov 17; Vol. 60 (5). Date of Electronic Publication: 2022 Nov 17 (Print Publication: 2022).
Autor:
Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. Electronic address: uwe.kornak@med.uni-goettingen.de., Saha N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies, Charité-Universtitätsmedizin Berlin, Germany; Max Planck International Research Network on Aging, Max Planck Society, Rostock, Germany., Keren B; Department of Genetics, DMU BioGem, Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Pitié-Salpêtrière, Paris, France., Neumann A; Laboratory of RNA Biochemistry, Institute of Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany; Omiqa Bioinformatics, Berlin, Germany., Taylor Tavares AL; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Genomics England, London, United Kingdom., Piard J; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France. Electronic address: jpiard@chu-besancon.fr., Kopp J; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Chemistry and Biochemistry, Department of Biology, Chemistry and Pharmacy, Freie Universität Berlin, Berlin, Germany., Rodrigues Alves JG; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospital Universitário Lisboa Norte, Lisboa, Portugal., Rodríguez de Los Santos M; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies, Charité-Universtitätsmedizin Berlin, Germany., El Choubassi N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Jäger M; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; BIH Genomics Core Unit, Berlin Institute of Health (BIH), Berlin, Germany., Spielmann M; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Pantel JT; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany., Lejeune E; Department of Genetics, DMU BioGem, Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Pitié-Salpêtrière, Paris, France., Fauler B; Microscopy and Cryo-electron Microscopy Group, Max Planck Institute for Molecular Genetics, Berlin, Germany., Mielke T; Microscopy and Cryo-electron Microscopy Group, Max Planck Institute for Molecular Genetics, Berlin, Germany., Hecht J; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain., Meierhofer D; Mass-Spectrometry Facility, Max Planck Institute for Molecular Genetics, Berlin, Germany., Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Laugel V; Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Brice A; Department of Genetics, DMU BioGem, Assistance Publique - Hôpitaux de Paris, Hôpital Universitaire Pitié-Salpêtrière, Paris, France; Institut du Cerveau - Paris Brain Institute - ICM, Inserm, Centre National de la Recherche Scientifique, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France., Mundlos S; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany., Bauer P; CENTOGENE GmbH, Rostock, Germany; Department of Medicine Clinic III, Hematology, Oncology and Palliative Medicine, Rostock University Medical Center, Rostock, Germany., Heyd F; Laboratory of RNA Biochemistry, Institute of Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany., Boute O; Génétique Clinique, Centre Hospitalier Universitaire de Lille, Hôpital Jeanne de Flandre, Lille, France. Electronic address: odile.boute@chru-lille.fr., Dupont J; Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospital Universitário Lisboa Norte, Lisboa, Portugal. Electronic address: juliette.dupont@chln.min-saude.pt., Depienne C; Institut du Cerveau - Paris Brain Institute - ICM, Inserm, Centre National de la Recherche Scientifique, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France; Center of Clinical investigation 1431, National Institute of Health and Medical Research (INSERM), CHU, Besancon, France., Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address: bjoern.fischer@charite.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1927-1940. Date of Electronic Publication: 2022 Jun 07.
Autor:
Seaby EG; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Program in Medical and Population Genetics, Broad institute of MIT and Harvard, Boston, MA; Center for Genomic Medicine, Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: E.Seaby@soton.ac.uk., Smedley D; Genomics England, Dawson Hall, Charterhouse Square, London, EC1M 6BQ, United Kingdom., Taylor Tavares AL; Genomics England, Dawson Hall, Charterhouse Square, London, EC1M 6BQ, United Kingdom., Brittain H; Genomics England, Dawson Hall, Charterhouse Square, London, EC1M 6BQ, United Kingdom., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Rehm HL; Program in Medical and Population Genetics, Broad institute of MIT and Harvard, Boston, MA; Center for Genomic Medicine, Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad institute of MIT and Harvard, Boston, MA; Center for Genomic Medicine, Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Ennis S; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Aug; Vol. 24 (8), pp. 1697-1707. Date of Electronic Publication: 2022 May 09.
Autor:
Blakes AJM; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Faculty of Medicine, National Heart and Lung Institute, Imperial College London, London, UK., Wai HA; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Davies I; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK., Moledina HE; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK., Ruiz A; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Thomas T; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Bunyan D; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Thomas NS; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Burren CP; Department of Paediatric Endocrinology and Diabetes, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, Department of Translational Health Sciences, University of Bristol, Bristol, UK., Greenhalgh L; Liverpool Centre for Genomic Medicine, Crown Street, Liverpool, UK., Lees M; North East Thames Regional Genomics Service, Great Ormond Street Hospital, London, UK., Pichini A; Department of Clinical Genetics, University Hospitals Bristol and Weston Foundation Trust, Bristol, UK.; Genomics England, Dawson Hall, Charterhouse Square, London, UK., Smithson SF; Department of Clinical Genetics, University Hospitals Bristol and Weston Foundation Trust, Bristol, UK., Taylor Tavares AL; Genomics England, Dawson Hall, Charterhouse Square, London, UK.; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge, UK., O'Donovan P; Genomics England, Dawson Hall, Charterhouse Square, London, UK., Douglas AGL; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Whiffin N; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Baralle D; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Lord J; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK. jenny.lord@soton.ac.uk.
Publikováno v:
Genome medicine [Genome Med] 2022 Jul 26; Vol. 14 (1), pp. 79. Date of Electronic Publication: 2022 Jul 26.
Autor:
Stark Z; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia. Electronic address: zornitza.stark@vcgs.org.au., Foulger RE; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Williams E; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Thompson BA; University of Melbourne, Melbourne, VIC 3010, Australia; Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia., Snow C; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Leong IUS; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Puzriakova A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Daugherty LC; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Leigh S; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Boustred C; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Niblock O; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Rueda-Martin A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Gerasimenko O; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Savage K; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Bellamy W; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Lin VSK; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia., Valls R; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia., Gordon L; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia., Brittain HK; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Thomas ERA; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Guy's and St Thomas's NHS Trust, London SE1 9RS, UK., Taylor Tavares AL; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., McEntagart M; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; St George's University Hospitals NHS Trust, London SW17 0QT, UK., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia., Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia., Downie L; University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Macciocca I; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Lee C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Roesley A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., De Fazio P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Deller J; National Health Service England and National Health Service Improvement, London SE1 6LH, UK., Deans ZC; National Health Service England and National Health Service Improvement, London SE1 6LH, UK., Hill SL; National Health Service England and National Health Service Improvement, London SE1 6LH, UK., Caulfield MJ; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., North KN; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Scott RH; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Rendon A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Hofmann O; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia., McDonagh EM; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Open Targets and European Molecular Biology Laboratory - European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1551-1557. Date of Electronic Publication: 2021 Jul 29.