Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Quaife, NM"'
Autor:
Wright, CF, Quaife, NM, Ramos-Hernández, L, Danecek, P, Ferla, MP, Samocha, KE, Kaplanis, J, Gardner, EJ, Eberhardt, RY, Chao, KR, Karczewski, KJ, Morales, J, Gallone, G, Balasubramanian, M, Banka, S, Gompertz, L, Kerr, B, Kirby, A, Lynch, SA, Morton, JEV, Pinz, H, Sansbury, FH, Stewart, H, Zuccarelli, BD, Consortium, Genomics England Research, Cook, SA, Taylor, JC, Juusola, J, Retterer, K, Firth, HV, Hurles, ME, Lara-Pezzi, E, Barton, PJR, Whiffin, N
Publikováno v:
Am J Hum Genet
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Genomics England Research Consortium 2021, ' Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1083-1094 . https://doi.org/10.1016/j.ajhg.2021.04.025
Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare disease, including DD, remains v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e16a87ad0288d35265ae7a6ad3db8b
https://europepmc.org/articles/PMC8206381/
https://europepmc.org/articles/PMC8206381/
Autor:
Whiffin, N, Karczewski, KJ, Zhang, X, Chothani, S, Smith, MJ, Evans, DG, Roberts, AM, Quaife, NM, Schafer, S, Rackham, O, Alfoeldi, J, O'Donnell-Luria, AH, Francioli, LC, Armean, IM, Aguilar Salinas, CA, Cook, SA, Barton, PJR, MacArthur, DG, Ware, JS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::714958e1b4fac001f2ef3829252e9128
http://hdl.handle.net/10044/1/87317
http://hdl.handle.net/10044/1/87317
Autor:
Zaman S; Imperial College London, London, United Kingdom., Padayachee Y; Imperial College Healthcare National Health Service Trust, London, United Kingdom., Shah M; Imperial College Health Partners, London, United Kingdom., Samways J; Imperial College Healthcare National Health Service Trust, London, United Kingdom., Auton A; Imperial College Healthcare National Health Service Trust, London, United Kingdom., Quaife NM; Imperial College Healthcare National Health Service Trust, London, United Kingdom., Sweeney M; Imperial College London, London, United Kingdom., Howard JP; Imperial College London, London, United Kingdom., Tenorio I; Imperial College Healthcare National Health Service Trust, London, United Kingdom., Bachtiger P; Imperial College London, London, United Kingdom., Kamalati T; Imperial College Health Partners, London, United Kingdom., Pabari PA; Imperial College Healthcare National Health Service Trust, London, United Kingdom., Linton NWF; Imperial College London, London, United Kingdom., Mayet J; Imperial College London, London, United Kingdom., Peters NS; Imperial College London, London, United Kingdom., Barton C; Imperial College Healthcare National Health Service Trust, London, United Kingdom., Cole GD; Imperial College London, London, United Kingdom., Plymen CM; Imperial College Healthcare National Health Service Trust, London, United Kingdom.
Publikováno v:
JMIR cardio [JMIR Cardio] 2023 Jun 23; Vol. 7, pp. e45611. Date of Electronic Publication: 2023 Jun 23.
Autor:
Auton A; Imperial College Healthcare NHS Trust, London, United Kingdom., Zaman S; Imperial College London, London, United Kingdom., Padayachee Y; Imperial College Healthcare NHS Trust, London, United Kingdom., Samways JW; Imperial College Healthcare NHS Trust, London, United Kingdom., Quaife NM; Imperial College Healthcare NHS Trust, London, United Kingdom., Sweeney M; Imperial College London, London, United Kingdom., Tenorio I; Imperial College Healthcare NHS Trust, London, United Kingdom., Linton NWF; Imperial College Healthcare NHS Trust, London, United Kingdom., Cole GD; Imperial College Healthcare NHS Trust, London, United Kingdom., Peters NS; Imperial College Healthcare NHS Trust, London, United Kingdom., Mayet J; Imperial College Healthcare NHS Trust, London, United Kingdom., Barton C; Imperial College Healthcare NHS Trust, London, United Kingdom., Plymen C; Imperial College Healthcare NHS Trust, London, United Kingdom.
Publikováno v:
JMIR nursing [JMIR Nurs] 2023 Jun 06; Vol. 6, pp. e44630. Date of Electronic Publication: 2023 Jun 06.
Autor:
Quaife NM; National Heart and Lung Institute, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., Chothani S; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore., Schulz JF; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; DZHK (German Center for Cardiovascular Research), partner site Berlin, Berlin, Germany., Lindberg EL; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Vanezis K; National Heart and Lung Institute, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., Adami E; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., O'Fee K; MRC London Institute of Medical Sciences, London, UK., Greiner J; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Litviňuková M; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., van Heesch S; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Whiffin N; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield Hospitals, Guy's and St Thomas NHS Foundation Trust, London, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Hubner N; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; DZHK (German Center for Cardiovascular Research), partner site Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Schafer S; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore., Rackham O; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore., Cook SA; MRC London Institute of Medical Sciences, London, UK.; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore.; National Heart Centre Singapore, Singapore, Singapore., Barton PJR; National Heart and Lung Institute, Imperial College London, London, UK. p.barton@imperial.ac.uk.; MRC London Institute of Medical Sciences, London, UK. p.barton@imperial.ac.uk.; Cardiovascular Research Centre, Royal Brompton and Harefield Hospitals, Guy's and St Thomas NHS Foundation Trust, London, UK. p.barton@imperial.ac.uk.
Publikováno v:
Journal of cardiovascular translational research [J Cardiovasc Transl Res] 2023 Feb; Vol. 16 (1), pp. 86.
Autor:
Quaife NM; National Heart and Lung Institute, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., Chothani S; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore., Schulz JF; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; DZHK (German Center for Cardiovascular Research), partner site Berlin, Berlin, Germany., Lindberg EL; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Vanezis K; National Heart and Lung Institute, Imperial College London, London, UK.; MRC London Institute of Medical Sciences, London, UK., Adami E; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., O'Fee K; MRC London Institute of Medical Sciences, London, UK., Greiner J; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Litviňuková M; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., van Heesch S; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Whiffin N; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield Hospitals, Guy's and St Thomas NHS Foundation Trust, London, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Hubner N; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; DZHK (German Center for Cardiovascular Research), partner site Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Schafer S; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore., Rackham O; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore., Cook SA; MRC London Institute of Medical Sciences, London, UK.; Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore, Singapore, 169857, Singapore.; National Heart Centre Singapore, Singapore, Singapore., Barton PJR; National Heart and Lung Institute, Imperial College London, London, UK. p.barton@imperial.ac.uk.; MRC London Institute of Medical Sciences, London, UK. p.barton@imperial.ac.uk.; Cardiovascular Research Centre, Royal Brompton and Harefield Hospitals, Guy's and St Thomas NHS Foundation Trust, London, UK. p.barton@imperial.ac.uk.
Publikováno v:
Journal of cardiovascular translational research [J Cardiovasc Transl Res] 2023 Feb; Vol. 16 (1), pp. 77-85. Date of Electronic Publication: 2022 Jun 27.
Autor:
Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter EX2 5DW, UK., Quaife NM; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London SW3 6NP, UK., Ramos-Hernández L; Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), 28029 Madrid, Spain., Danecek P; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Ferla MP; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Samocha KE; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Kaplanis J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Gardner EJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Eberhardt RY; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Chao KR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Morales J; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge CB10 1SD, UK., Gallone G; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield S10 2TH, UK., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester M13 9PL, UK., Gompertz L; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Kerr B; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester M13 9PL, UK., Kirby A; Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA., Lynch SA; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin D01 XD99, Ireland., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B4 6NH, UK., Pinz H; Department of Pediatrics, Saint Louis University School of Medicine, Saint Louis, MO 63104, USA., Sansbury FH; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4AY, UK., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Zuccarelli BD; Department of Neurology, University of Kansas School of Medicine-Salina Campus, Salina, KS 67401, USA., Cook SA; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK., Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Retterer K; GeneDx, Gaithersburg, MD 20877, USA., Firth HV; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK., Lara-Pezzi E; Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), 28029 Madrid, Spain; CIBER de enfermedades CardioVasculares (CIBERCV), 28029 Madrid, Spain., Barton PJR; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London W12 0NN, UK; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London SW3 6NP, UK., Whiffin N; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1RQ, UK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. Electronic address: nwhiffin@well.ox.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1083-1094. Date of Electronic Publication: 2021 May 21.
Autor:
Whiffin N; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK. n.whiffin@imperial.ac.uk.; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK. n.whiffin@imperial.ac.uk.; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA. n.whiffin@imperial.ac.uk., Karczewski KJ; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA., Zhang X; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK., Chothani S; Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore., Smith MJ; NW Genomic Laboratory Hub, Centre for Genomic Medicine, Division of Evolution and Genomic Science, St Mary's Hospital, University of Manchester, Oxford Road, Manchester, M13 9WL, UK., Evans DG; NW Genomic Laboratory Hub, Centre for Genomic Medicine, Division of Evolution and Genomic Science, St Mary's Hospital, University of Manchester, Oxford Road, Manchester, M13 9WL, UK., Roberts AM; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK., Quaife NM; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK., Schafer S; Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.; National Heart Centre Singapore, 5 Hospital Drive, Singapore, 169609, Singapore., Rackham O; Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore., Alföldi J; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA., O'Donnell-Luria AH; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA., Francioli LC; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA., Cook SA; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.; Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.; National Heart Centre Singapore, 5 Hospital Drive, Singapore, 169609, Singapore., Barton PJR; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK., MacArthur DG; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., Ware JS; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK.; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA.
Publikováno v:
Nature communications [Nat Commun] 2021 Feb 02; Vol. 12 (1), pp. 839. Date of Electronic Publication: 2021 Feb 02.
Autor:
Whiffin N; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK. n.whiffin@imperial.ac.uk.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK. n.whiffin@imperial.ac.uk.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. n.whiffin@imperial.ac.uk., Armean IM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Kleinman A; 23andMe, Inc., Sunnyvale, CA, USA., Marshall JL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Minikel EV; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Quaife NM; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK., Cole JB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Metabolism, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA, USA., Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA., Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Cummings BB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA., Francioli L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Laricchia K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Guan A; 23andMe, Inc., Sunnyvale, CA, USA., Alipanahi B; 23andMe, Inc., Sunnyvale, CA, USA.; Google, Inc., Mountain View, CA, USA., Morrison P; 23andMe, Inc., Sunnyvale, CA, USA., Baptista MAS; Michael J. Fox Foundation, New York, NY, USA., Merchant KM; Michael J. Fox Foundation, New York, NY, USA., Ware JS; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Havulinna AS; National Institute for Health and Welfare, Helsinki, Finland.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Iliadou B; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Lee JJ; Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Nadkarni GN; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Whiteman C; Department of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, NY, USA., Daly M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Esko T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia., Hultman C; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Milani L; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia., Palotie A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pato C; Department of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, NY, USA., Pato M; Department of Psychiatry and the Behavioral Sciences, State University of New York, Downstate Medical Center, New York, NY, USA., Saleheen D; Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Center for Non-Communicable Diseases, Karachi, Pakistan., Sullivan PF; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.; Departments of Genetics and Psychiatry, University of North Carolina, Chapel Hill, NC, USA., Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Cannon P; 23andMe, Inc., Sunnyvale, CA, USA., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. d.macarthur@garvan.org.au.; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia. d.macarthur@garvan.org.au.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. d.macarthur@garvan.org.au.
Publikováno v:
Nature medicine [Nat Med] 2021 Feb; Vol. 27 (2), pp. 355.
Autor:
Whiffin N; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK. n.whiffin@imperial.ac.uk.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK. n.whiffin@imperial.ac.uk.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. n.whiffin@imperial.ac.uk., Armean IM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Kleinman A; 23andMe, Inc., Sunnyvale, CA, USA., Marshall JL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Minikel EV; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Quaife NM; National Heart & Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton & Harefield Hospitals NHS Trust, London, UK., Cole JB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Metabolism, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA, USA., Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA., Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Cummings BB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA., Francioli L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Laricchia K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Guan A; 23andMe, Inc., Sunnyvale, CA, USA., Alipanahi B; 23andMe, Inc., Sunnyvale, CA, USA.; Google, Inc., Mountain View, CA, USA., Morrison P; 23andMe, Inc., Sunnyvale, CA, USA., Baptista MAS; Michael J. Fox Foundation, New York, NY, USA., Merchant KM; Michael J. 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Publikováno v:
Nature medicine [Nat Med] 2020 Jun; Vol. 26 (6), pp. 869-877. Date of Electronic Publication: 2020 May 27.