Zobrazeno 1 - 10
of 631
pro vyhledávání: '"Durkie, M"'
Autor:
Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Brown, D., Willan, J., Taylor, S., Jones, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., Hayden, C., Garrett, Alice 1, 2, Allen, Sophie 1, Durkie, Miranda 3, Burghel, George J. 4, Robinson, Rachel 5, Callaway, Alison 6, Field, Joanne 7, Frugtniet, Bethan 2, Palmer-Smith, Sheila 8, Grant, Jonathan 9, Pagan, Judith 10, McDevitt, Trudi 11, Rowlands, Charlie F. 1, McVeigh, Terri 12, Hanson, Helen 1, 13, 14, Turnbull, Clare 1, 12, ∗
Publikováno v:
In Genetics in Medicine February 2025 27(2)
Autor:
Cubuk, C., Garrett, A., Choi, S., King, L., Loveday, C., Torr, B., Burghel, G.J., Durkie, M., Callaway, A., Robinson, R., Drummond, J., Berry, I., Wallace, A., Eccles, D., Tischkowitz, M., Whiffin, N., Ware, J.S., Hanson, H., Turnbull, C.
Publikováno v:
In Genetics in Medicine November 2021 23(11):2096-2104
Autor:
Ellard S; Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK., Morgan S; All Wales Genetics Laboratory, University Hospital of Wales, Cardiff, UK., Wynn SL; Rare Chromosome Disorder Support Group, Unique, Surrey, UK., Walker S; Genomics England Limited, London, UK., Parrish A; Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; South West Genomic Medicine Service, England, UK., Mein R; NHS England, London, UK., Juett A; South West Genomic Medicine Service, England, UK., Ahn JW; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Berry I; South West Genomic Medicine Service, England, UK.; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK., Cassidy EJ; Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, UK., Durkie M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Fish L; Genetic Alliance UK, London, UK., Hall R; South East Genomic Laboratory Hub, London, UK., Howard E; Manchester University NHS Foundation Trust, Manchester, UK., Rankin J; South West Genomic Medicine Service, England, UK.; Peninsula Clinical Genetics Service, Exeter, UK., Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK., Deans ZC; GenQA, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK., Scott RH; Genomics England Limited, London, UK.; Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK., Hill SL; NHS England, London, UK., Baple EL; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK ebaple@nhs.net robert.taylor@newcastle.ac.uk.; South West Genomic Medicine Service, England, UK.; Peninsula Clinical Genetics Service, Exeter, UK., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK ebaple@nhs.net robert.taylor@newcastle.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, North East and Yorkshire Genomic Laboratory Hub, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Nov 25; Vol. 61 (12), pp. 1103-1112. Date of Electronic Publication: 2024 Nov 25.
Autor:
Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom; Department of Clinical Genetics, St George's University Hospitals NHS Foundation Trust, Tooting, London, United Kingdom., Allen S; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom., Durkie M; Sheffield Diagnostic Genetics Service, NEY Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Burghel GJ; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom., Robinson R; The Leeds Genetics Laboratory, NEY Genomic Laboratory Hub, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Callaway A; Central and South Genomics Laboratory Hub, Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, United Kingdom., Field J; Genomics and Molecular Medicine Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Frugtniet B; Department of Clinical Genetics, St George's University Hospitals NHS Foundation Trust, Tooting, London, United Kingdom., Palmer-Smith S; Institute of Medical Genetics, University Hospital of Wales, Cardiff and Vale University Health Board, Cardiff, United Kingdom., Grant J; Laboratory Genetics, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, United Kingdom., Pagan J; South East Scotland Clinical Genetics, Western General Hospital, Edinburgh, United Kingdom., McDevitt T; Department of Clinical Genetics, CHI at Crumlin, Dublin, Ireland., Rowlands CF; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom., McVeigh T; The Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom., Hanson H; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom; Peninsula Regional Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Faculty of Health and Life Sciences, University of Exeter, Exeter, United Kingdom., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom; The Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom. Electronic address: turnbull.lab@icr.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct 24; Vol. 27 (2), pp. 101305. Date of Electronic Publication: 2024 Oct 24.
Autor:
Rowlands CF; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.; St George's University Hospitals NHS Foundation Trust, London, UK., Allen S; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Durkie M; Sheffield Diagnostic Genetics Service, NEY Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Burghel GJ; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University NHS Foundation Trust, Manchester, UK., Robinson R; The Leeds Genetics Laboratory, NEY Genomic Laboratory Hub, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Callaway A; Wessex Genetics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, UK., Field J; Genomics and Molecular Medicine Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Frugtniet B; St George's University Hospitals NHS Foundation Trust, London, UK., Palmer-Smith S; Institute of Medical Genetics, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Grant J; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, G51 4TF, UK., Pagan J; South East Scotland Clinical Genetics, Western General Hospital, Edinburgh, UK., McDevitt T; CHI Crumlin Department of Clinical Genetics, Dublin, Ireland., McVeigh TP; The Royal Marsden NHS Foundation Trust, London, UK., Hanson H; Peninsula Regional Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Program in Medical and Population Genetics, Eli and Edythe L Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Jones M; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK turnbull.lab@icr.ac.uk.; The Royal Marsden NHS Foundation Trust, London, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Sep 24; Vol. 61 (10), pp. 983-991. Date of Electronic Publication: 2024 Sep 24.
Autor:
McDevitt T; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland. trudi.mcdevitt@childrenshealthireland.ie., Durkie M; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust Western Bank, Sheffield, UK., Arnold N; UKSH Campus Kiel, Gynecology and Obstetrics, Institut of Clinical Chemistry, Institut of Clinical Molecular Biology, Kiel, Germany., Burghel GJ; Manchester University NHS Foundation Trust, North West Genomic Laboratory Hub, Manchester, UK., Butler S; Central and South Genomic Laboratory Hub, West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Claes KBM; Ghent University Hospital, Center for Medical Genetics, Gent, Belgium., Logan P; HSCNI / Belfast Trust Laboratories, Regional Molecular Diagnostics Service, Belfast, Northern Ireland., Robinson R; Leeds Teaching Hospitals NHS Trust, Genetics Department, Leeds, UK., Sheils K; EMQN, Manchester, UK., Wolstenholme N; EMQN, Manchester, UK., Hanson H; St George's University Hospitals NHS Foundation Trust, Clinical Genetics, London, UK., Turnbull C; Institute of Cancer Research, London, UK., Hume S; University of British Columbia, Pathology and Laboratory Medicine, Vancouver, BC, Canada.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug 02. Date of Electronic Publication: 2024 Aug 02.
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Autor:
McVeigh TP; Cancer Genetics Unit, Royal Marsden Hospital NHS Foundation Trust, London, UK terri.mcveigh@gmail.com.; The Institute of Cancer Research, London, UK., Lalloo F; Manchester Centre for Genomic Medicine, Manchester University Hospitals Foundation Trust, Manchester, UK., Monahan KJ; St Mark's the National Bowel Hospital and Academic Institute, London, UK.; Imperial College London, London, UK., Latchford A; The Polyposis Registry, St Mark's Centre for Familial Intestinal Cancer, St Mark's Hospital, London, UK.; Surgery and Cancer, Imperial College London, London, UK., Durkie M; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Mein R; NHS England, Redditch, UK., Baple EL; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Hanson H; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Faculty of Health and Life Sciences, University of Exeter Medical School, Exeter, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 813-816. Date of Electronic Publication: 2024 Jul 19.
Autor:
McVeigh TP; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK terri.mcveigh@gmail.com h.hanson@exeter.ac.uk.; The Institute of Cancer Research, London, UK., Lalloo F; Clinical Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Frayling IM; St Vincent's University Hospital, Dublin, Ireland.; St Mark's the National Bowel Hospital and Academic Institute, London, UK.; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Latchford A; St Mark's the National Bowel Hospital and Academic Institute, London, UK., Snape K; Clinical Genetics, St George's University Hospitals NHS Foundation Trust, London, UK., Durkie M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Monahan KJ; St Mark's the National Bowel Hospital and Academic Institute, London, UK.; Imperial College London, London, UK., Hanson H; Faculty of Health and Life Sciences, University of Exeter Medical School, Exeter, UK terri.mcveigh@gmail.com h.hanson@exeter.ac.uk.; Peninsula Regional Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 810-812. Date of Electronic Publication: 2024 Jul 19.
Autor:
Pagnamenta AT; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK. Electronic address: alistair@well.ox.ac.uk., Yu J; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK; Novo Nordisk Oxford Research Centre, Oxford, UK., Walker S; Genomics England, London, UK., Noble AJ; Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK., Lord J; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK; Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, UK., Dutta P; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK., Hashim M; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK., Camps C; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK., Green H; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Devaiah S; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Nashef L; Department of Neurology, King's College Hospital, London, UK., Parr J; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Fratter C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Ibnouf Hussein R; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Lindsay SJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Lalloo F; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banos-Pinero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Evans D; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Mallin L; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Waite A; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK., Evans J; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK., Newman A; The All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Allen Z; North Thames Rare and Inherited Disease Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Perez-Becerril C; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Ryan G; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, UK., Hart R; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Taylor J; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Bedenham T; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Clement E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Hay E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Forzano F; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, UK., Higgs J; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Canham N; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Majumdar A; Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK., McEntagart M; SW Thames Centre for Genomic Medicine, University of London & St George's University Hospitals NHS Foundation Trust, St George's, London, UK., Lahiri N; SW Thames Centre for Genomic Medicine, University of London & St George's University Hospitals NHS Foundation Trust, St George's, London, UK., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Smithson S; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK; Grupo de Investigación en Biomedicina Molecular, Celular y Genómica, Unidad CIBERER (CB06/07/1030), Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain., Jackson A; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Titheradge H; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Glasgow, UK., Rankin J; Department of Clinical Genetics, Royal Devon University Healthcare NHS Trust, Exeter, UK., Shaw-Smith C; Department of Clinical Genetics, Royal Devon University Healthcare NHS Trust, Exeter, UK., Evans DG; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Burghel GJ; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Smith MJ; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Anderson E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Madhu R; Paediatric Neurosciences Department, Alder Hey Children's Hospital NHS Foundation Trust, Liverpool, UK., Firth H; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Brennan P; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle University, Newcastle, UK., Anderson C; Canberra Clinical Genomics, Canberra Health Services and The Australian National University, Canberra, ACT, Australia., Taupin D; Cancer Research, Canberra Hospital, Canberra, ACT, Australia., Rogers MT; The All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Cook JA; Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Durkie M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, North East and Yorkshire Genomic Laboratory Hub, Sheffield, UK., East JE; Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK., Fowler D; Department of Cellular Pathology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Wilson L; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Igbokwe R; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Gardham A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Tomlinson I; Department of Oncology, University of Oxford, Oxford, UK., Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Uhlig HH; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK; Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK., Taylor JC; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, UK. Electronic address: jenny.taylor@well.ox.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1140-1164. Date of Electronic Publication: 2024 May 21.