Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Turner CLS"'
Autor:
Meester JAN; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Hebert A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Bastiaansen M; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Rabaut L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Bastianen J; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Boeckx N; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Ashcroft K; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK., Atwal PS; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, FL, USA., Benichou A; Department of Internal and Vascular Medicine, CHU Nantes, Nantes Université, Nantes, France., Billon C; Service de Médecine Génomique des Maladies Rares, Groupe Hospitalier Universitaire Centre, Paris, Assistance Publique Hôpitaux de Paris, Paris, France.; Université de Paris Cité, Inserm, PARCC, Paris, France., Blankensteijn JD; Department of Vascular Surgery, Amsterdam University Medical Center, Amsterdam, The Netherlands., Brennan P; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Bucks SA; GeneDx LLC, Gaithersburg, MD, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France., Curtis SL; Bristol Heart Institute, University Hospitals Bristol & Weston NHS Foundation Trust, Bristol, UK., Dasouki M; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Dent CL; South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Bristol, UK., Eden J; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester, UK., Goel H; Hunter Genetics, Waratah, NSW, Australia., Hartill V; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Houweling AC; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Jackson N; Clinical Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Koopman P; Department of Cardiology, Heart Centre Hasselt, Jessa Hospital, Hasselt, Belgium., Korpioja A; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Kraatari-Tiri M; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Kuulavainen L; Department of Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Lee K; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Low KJ; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK.; University of Bristol, Canynge Hall, Bristol, UK., Lu AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McManus ML; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Oakley SP; John Hunter Hospital, New Lambton Heights, NSW, Australia.; College of Health, Medicine and Wellbeing, School of Medicine, University of Newcastle, Newcastle, NSW, Australia., Oliver J; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Manchester, UK., Organ NM; John Hunter Hospital, New Lambton Heights, NSW, Australia., Overwater E; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium., Trainer AH; Department of Genomic Medicine, The Royal Melbourne Hospital and University of Melbourne, Parkville, Melbourne, VIC, Australia., Trivedi B; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Whittington R; South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Bristol, UK., Zankl A; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Garvan Institute of Medical Research, Sydney, NSW, Australia., Zentner D; Department of Genomic Medicine, The Royal Melbourne Hospital and University of Melbourne, Parkville, Melbourne, VIC, Australia., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verstraeten A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Loeys BL; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. bart.loeys@uantwerpen.be.; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. bart.loeys@uantwerpen.be.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2024 Mar 26; Vol. 9 (1), pp. 22. Date of Electronic Publication: 2024 Mar 26.
Autor:
Greene D; Department of Medicine, University of Cambridge, Cambridge, UK.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Pirri D; National Heart and Lung Institute, Imperial College London, London, UK., Frudd K; National Heart and Lung Institute, Imperial College London, London, UK.; University College London Institute of Ophthalmology, University College London, London, UK., Sackey E; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK., Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Giese APJ; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Ramzan K; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Riaz S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Yamanaka I; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan., Boeckx N; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Gelb BD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Brennan P; Northern Genetics Service, Newcastle upon Tyne Hospitals National Health Service Trust International Centre for Life, Newcastle upon Tyne, UK., Hartill V; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals National Health Service Trust, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Harvengt J; Centre for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium., Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan.; Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan., Mansour S; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; South West Thames Regional Genetics Service, St. George's University Hospitals National Health Service Foundation Trust, London, UK., Masuno M; Department of Medical Genetics, Kawasaki Medical School Hospital, Okayama, Japan., Ohata T; Okinawa Chubu Hospital, Okinawa, Japan., Stewart H; Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Taibah K; Ear Nose and Throat Medical Centre, Riyadh, Saudi Arabia., Turner CLS; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Exeter, UK., Imtiaz F; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Riazuddin S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Morisaki T; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.; Division of Molecular Pathology and Department of Internal Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan., Ostergaard P; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK., Loeys BL; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Morisaki H; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan., Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Birdsey GM; National Heart and Lung Institute, Imperial College London, London, UK., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; South West National Health Service Genomic Medicine Service Alliance, Bristol, UK., Turro E; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. ernest.turro@mssm.edu.; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.
Publikováno v:
Nature medicine [Nat Med] 2023 Mar; Vol. 29 (3), pp. 679-688. Date of Electronic Publication: 2023 Mar 16.
Autor:
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 967.
Autor:
Guimier A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France., Achleitner MT; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Moreau de Bellaing A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., de Pontual L; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Mittal K; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Dunn KE; Children's Heart Center, Stanford Children's Health, Palo Alto, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Tysoe CJ; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dimartino C; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Cameron J; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Kanthi A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., van den Broek F; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Chatterjee D; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Knowles CV; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brett L; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Till JA; Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK., Homfray T; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., French P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Spentzou G; The Royal Hospital for Children, Glasgow, UK.; Department of Pediatrics, Columbia University, New York, NY, USA., Elserafy NA; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Lichkus KS; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sankaran BP; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Kennedy HL; Department of Psychological Medicine, University of Otago, Christchurch, New Zealand., George PM; Pathogene, Christchurch, New Zealand., Kidd A; Clinical Genetics New Zealand, Christchurch, New Zealand., Wortmann SB; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Fisk DG; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Koopmann TT; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Rafiq MA; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Parikh S; Mitochondrial Medicine Center, Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA., Ahimaz P; Department of Pediatrics, Columbia University, New York, NY, USA., Weintraub RG; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Ma AS; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Turner C; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia., Ellaway CJ; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Phillips LK; SA Pathology, Department of Genetics and Molecular Pathology, Adelaide, SA, Australia.; University of Adelaide, Adelaide, SA, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., Kana SL; Division of Clinical Genetics and Metabolism, Nicklaus Children's Health System, Miami, FL, USA.; Florida International University, Miami, FL, USA., Faye-Petersen OM; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Janin A; Laboratoire de Cardiogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Lyon, France., McLeod K; The Royal Hospital for Children, Glasgow, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Hamilton RM; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Bajolle F; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Gordon CT; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Amiel J; INSERM U1163, Université de Paris, Institut Imagine, Paris, France. jeanne.amiel@inserm.fr.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France. jeanne.amiel@inserm.fr., Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria. h.mayr@salk.at., Doudney K; Centre for Postgraduate Nursing Studies and the Department of Pathology and Biomedical Science, University of Otago Christchurch, Otautahi, New Zealand. kit.doudney@otago.ac.nz.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2415-2425. Date of Electronic Publication: 2021 Aug 16.
Autor:
Tuke MA; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Ruth KS; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Wood AR; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Beaumont RN; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Tyrrell J; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Jones SE; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Yaghootkar H; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Turner CLS; Peninsula Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK., Donohoe ME; Macleod Diabetes & Endocrine Centre, Royal Devon & Exeter Hospital, Exeter, UK., Brooke AM; Macleod Diabetes & Endocrine Centre, Royal Devon & Exeter Hospital, Exeter, UK., Collinson MN; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK., Freathy RM; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Weedon MN; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Frayling TM; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK., Murray A; Genetics of Complex Traits, University of Exeter Medical School, Exeter, UK. A.Murray@exeter.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Aug; Vol. 21 (8), pp. 1884-1885. Date of Electronic Publication: 2018 Dec 21.
Autor:
Tuke MA; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Ruth KS; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Wood AR; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Beaumont RN; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Tyrrell J; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Jones SE; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Yaghootkar H; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Turner CLS; Peninsula Clinical Genetics, Royal Devon & Exeter Hospital, Gladstone Road, Exeter, UK., Donohoe ME; Macleod Diabetes & Endocrine Centre, Royal Devon and Exeter Hospital, Exeter, UK., Brooke AM; Macleod Diabetes & Endocrine Centre, Royal Devon and Exeter Hospital, Exeter, UK., Collinson MN; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK., Freathy RM; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Weedon MN; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Frayling TM; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK., Murray A; Genetics of Complex Traits, University of Exeter Medical School, RILD Level 3, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK. A.Murray@exeter.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Apr; Vol. 21 (4), pp. 877-886. Date of Electronic Publication: 2018 Sep 05.
Autor:
Begemann M; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany., Rezwan FI; Faculty of Medicine, University of Southampton, Southampton, UK., Beygo J; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Docherty LE; MRC Human Genetics Unit, The Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Kolarova J; Institute of Human Genetics, University of Ulm, Ulm, Germany., Schroeder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Buiting K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Chokkalingam K; Department of Diabetic Medicine, Nottingham University Hospital NHS Trust, Nottingham, UK., Degenhardt F; Institute of Human Genetics, Bonn, Germany., Wakeling EL; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK., Kleinle S; Medical Genetics Center München, München, Germany., González Fassrainer D; Medical Genetics Center München, München, Germany., Oehl-Jaschkowitz B; Praxis für Humangenetik Homburg, Homburg, Germany., Turner CLS; Peninsula Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK., Patalan M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland., Gizewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland., Binder G; Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany., Bich Ngoc CT; Department of Medical Genetics, Metabolism and Endocrinology, The National Children's Hospital, Hanoi, Vietnam., Chi Dung V; Department of Medical Genetics, Metabolism and Endocrinology, The National Children's Hospital, Hanoi, Vietnam., Mehta SG; Department of Clinical Genetics, Cambridge University Hospitals Trust, Cambridge, UK., Baynam G; School of Paediatrics and Child Health, The University of Western Australia, Perth, Western Australia, Australia.; Genetic Services of Western Australian and Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia., Hamilton-Shield JP; School of Clinical Sciences, University of Bristol, Bristol, UK., Aljareh S; Faculty of Medicine, University of Southampton, Southampton, UK., Lokulo-Sodipe O; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital, Southampton, UK., Horton R; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital, Southampton, UK., Siebert R; Institute of Human Genetics, University of Ulm, Ulm, Germany., Elbracht M; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany., Temple IK; Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital, Southampton, UK., Eggermann T; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany., Mackay DJG; Faculty of Medicine, University of Southampton, Southampton, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2018 Jul; Vol. 55 (7), pp. 497-504. Date of Electronic Publication: 2018 Mar 24.
Autor:
Skraban CM; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Wells CF; Clinical Genetics Group, Department of Women's & Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Markose P; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cho MT; GeneDx, Gaithersburg, MD 20877, USA., Nesbitt AI; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N1N4, Canada., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Bernat JA; Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Bird LM; Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, CA 92123, USA., Cao K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., de Brouwer APM; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Denenberg EH; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Douglas G; GeneDx, Gaithersburg, MD 20877, USA., Gibson KM; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Grand K; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Goldenberg A; Service de Génétique, Centre Hospitalier Universitaire de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, 76031 Rouen, France., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N1N4, Canada., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Kempers M; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Kinning E; West of Scotland Genetics Service, Queen Elizabeth Hospitals, Glasgow, Scotland G51 4TF, UK., Markie DM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Owens MM; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK., Payne K; Division of Child Neurology, Riley Hospital for Children, Indiana University Health Physicians, Indianapolis, IN 46202, USA., Person R; GeneDx, Gaithersburg, MD 20877, USA., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Stocco A; INTEGRIS Baptist Child Neurology Clinic, Oklahoma City, OK 73112, USA., Turner CLS; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter EX1 2ED, UK., Verbeek NE; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Walsh LE; Division of Child Neurology, Riley Hospital for Children, Indiana University Health Physicians, Indianapolis, IN 46202, USA., Warner TC; Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, FL 32806, USA., Wieczorek D; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, 40225 Düsseldorf, Germany., Wilkens AB; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands., Robertson SP; Clinical Genetics Group, Department of Women's & Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA; Department of Pathology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104 USA., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, the Netherlands., Deardorff MA; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: deardorff@email.chop.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Jul 06; Vol. 101 (1), pp. 139-148.