Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Berry IR"'
Autor:
Whitehouse, LLE, Smith, CEL, Poulter, JA, Brown, CJ, Patel, A, Lamb, T, Brown, LR, O'Sullivan, EA, Mitchell, RE, Berry, IR, Charlton, R, Inglehearn, CF, Mighell, AJ
Publikováno v:
In Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology July 2021 132(1):e52-e52
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Greene D; Department of Medicine, University of Cambridge, Cambridge, UK.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Berry IR; NHS South West Genomic Laboratory Hub, Southmead Hospital, Bristol, UK.; NHS South West Genomic Medicine Service Alliance, Bristol, UK., Jarvis J; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK., Ortibus E; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.; Paediatric Neurology Department, University Hospitals of KU Leuven, Leuven, Belgium., Mumford AD; NHS South West Genomic Medicine Service Alliance, Bristol, UK.; Bristol Medical School, University of Bristol, Bristol, UK., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Turro E; Department of Medicine, University of Cambridge, Cambridge, UK. 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.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 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] 2024 Aug; Vol. 30 (8), pp. 2165-2169. Date of Electronic Publication: 2024 May 31.
Autor:
Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Ortigoza-Escobar JD; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Stringer BW; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia., Ganieva M; Avicenna Tajik State Medical University, Department of Neurology and Medical Genetics, Dushanbe, Tajikistan., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Macaya A; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Laner A; MGZ - Medical Genetics Centre, Munich, Germany., Onbool E; Neurology department, King Abdulaziz Specialist Hospital, Skaka Aljouf, Saudi Arabia., Al-Shammari R; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Deconinck N; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Vilain C; Department of Genetics, Hôpital Universitaire Reine Fabiola (HUDERF); Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Dontaine P; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Self E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Akram R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan., Hussain G; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan., Iqbal J; Department of Neurology, Allied Hospital, Faisalabad Medical University, Faisalabad, Pakistan., Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Kasiri M; School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran., Yesil G; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Uygur T; Department of Pediatric Neurology, Bezmialem Vakif University, İstanbul, Turkey., Pysden K; Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, United Kingdom., Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds, United Kingdom., Alves CA; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Giacomotto J; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia.; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jun; Vol. 39 (6), pp. 983-995. Date of Electronic Publication: 2024 Apr 06.
Autor:
Loong L; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Allen S; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Choi S; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Durkie M; Sheffield Diagnostic Genetics Service, NHS North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Callaway A; Wessex Regional Genetics Laboratory, Central and South Genomics Laboratory Hub, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom., Drummond J; Cambridge Genomic Laboratory, East Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge, United Kingdom., Burghel GJ; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Robinson R; North East and Yorkshire Genomic Laboratory Hub, The Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Torr B; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Berry IR; Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom., Wallace AJ; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Eccles DM; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Ellard S; Exeter Genomics Laboratory, South West Genomic Laboratory Hub, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; University of Exeter Medical School, Exeter, United Kingdom., Baple E; University of Exeter Medical School, Exeter, United Kingdom; Genomics England, London, United Kingdom., Evans DG; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Division of Evolution & Genomic Sciences, The University of Manchester, Manchester, United Kingdom., Woodward ER; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Division of Evolution & Genomic Sciences, The University of Manchester, Manchester, United Kingdom., Kulkarni A; Southeast Thames Regional Genetics Service, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Lalloo F; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom., Lucassen A; Wellcome Centre for Human Genetics/Centre for Personalised Medicine, University of Oxford, Oxford, United Kingdom; Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Hanson H; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Department of Clinical Genetics, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, United Kingdom. Electronic address: clare.turnbull@icr.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1867-1877. Date of Electronic Publication: 2022 Jun 03.
Autor:
Loong L; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Cubuk C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Choi S; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Allen S; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Torr B; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Garrett A; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Loveday C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom., Durkie M; Sheffield Diagnostic Genetics Service, NHS North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Callaway A; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, United Kingdom; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Burghel GJ; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Drummond J; East Genomic Laboratory Hub, Cambridge University Hospitals Genomic Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Robinson R; North East and Yorkshire Genomic Laboratory Hub, The Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Berry IR; Bristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, North Bristol NHS Trust, Bristol, United Kingdom., Wallace A; Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Eccles DM; Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Tischkowitz M; Department of Medical Genetics, NIHR Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom., Ellard S; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Ware JS; National Heart and Lung Institute, Faculty of Medicine, and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom., Hanson H; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Department of Clinical Genetics, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, United Kingdom. Electronic address: clare.turnbull@icr.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Mar; Vol. 24 (3), pp. 552-563. Date of Electronic Publication: 2021 Nov 18.
Autor:
Rots D; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Chater-Diehl E; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Dingemans AJM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Goodman SJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Siu MT; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Cytrynbaum C; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada., Choufani S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Hoang N; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Walker S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Charkow J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Meyn S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Pfundt R; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Rinne T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Gardeitchik T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., de Vries BBA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Deden AC; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Leenders E; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Kwint M; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Stevens SJC; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Vermeulen JR; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., van Harssel JVT; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., Bosch DGM; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., de Geus CM; University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands., Brackel H; Catharina Hospital, 5623 EJ Eindhoven, the Netherlands., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143, USA., Strober J; Division of Child Neurology, Department of Neurology & Pediatrics, UCSF, San Francisco, CA 94143, USA., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., Folk L; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Yang H; GeneDx, Gaithersburg, MD 20877, USA., Zou F; GeneDx, Gaithersburg, MD 20877, USA., Millan F; GeneDx, Gaithersburg, MD 20877, USA., Person R; GeneDx, Gaithersburg, MD 20877, USA., Xie Y; GeneDx, Gaithersburg, MD 20877, USA., Liu S; GeneDx, Gaithersburg, MD 20877, USA., Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark., Larsen M; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark., Schultz-Rogers L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55902, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA., Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds LS1 3EX, UK., Campbell J; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, UK., Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016 USA., Pruniski B; Phoenix Children's Hospital, Phoenix, AZ 85016 USA., Neumeyer AM; Massachusetts General Hospital for Children, Harvard Medical School, Boston, MA 02114, USA., Radley JA; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B15 2TG, UK; Clinical Genetics, London North West University Healthcare Foundation Trust, London HA1 3UJ, UK., Phornphutkul C; Warren Alpert Medical School of Brown University, Providence, RI 02903, USA., Schmidt B; University of Virginia School of Medicine, Charlottesville, VA 22903, USA., Wilson WG; University of Virginia School of Medicine, Charlottesville, VA 22903, USA., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Cuperus R; Department of Paediatrics, Juliana Children's Hospital HAGA, 2545 AA the Hague, the Netherlands., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Ritter A; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA., Bhoj E; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA., Tønne E; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway., Tveten K; Department of Medical genetics, Telemark Hospital Trust, 3710 Skien, Norway., Cappuccio G; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy., Rowe L; University of Colorado School of Medicine, Aurora, CO 13001, USA., Bunn J; University of Colorado School of Medicine, Aurora, CO 13001, USA., Saenz M; University of Colorado School of Medicine, Aurora, CO 13001, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Mertens M; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Caluseriu O; Department of Medical Genetics in the Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Cohn RD; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada., Alkhunaizi E; Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada., Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada., Brunner HG; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Vissers LELM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Kleefstra T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Koolen DA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands. Electronic address: david.koolen@radboudumc.nl., Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada; Institute of Medical Science, School of Graduate Studies, University of Toronto, Toronto, ON M5S 2Z9, Canada. Electronic address: rweksb@sickkids.ca.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1053-1068. Date of Electronic Publication: 2021 Apr 27.
Autor:
Nikolopoulos G; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Department of Oral Biology, School of Dentistry, St James's University Hospital, University of Leeds, Leeds, UK., Smith CEL; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Murillo G; School of Dentistry, Universidad de Costa Rica, Ciudad Universitaria Rodrigo Facio, San Pedro Montes De Oca, Costa Rica., Silva S; Cellular and Molecular Biology Centre (CBCM), Universidad de Costa Rica, Ciudad Universitaria Rodrigo Facio, San Pedro Montes De Oca, Costa Rica., Lamb T; Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Berry IR; Leeds Genetics Laboratory, St James's University Hospital, Leeds, UK., Brown CJ; Birmingham Dental Hospital, Birmingham, UK., Day PF; Department of Paediatric Dentistry, Leeds Dental Institute, University of Leeds, Leeds, UK.; Community Dental Service, Horton Park Health Centre, Bradford District Care NHS Foundation Trust, Bradford, UK., Soldani F; Community Dental Service, Horton Park Health Centre, Bradford District Care NHS Foundation Trust, Bradford, UK., Al-Bahlani S; Dental & O.M.F.S Clinic, Al Nahdha Hospital, Ministry of Health, Muscat, Oman., Harris SA; School of Physics, University of Leeds, Leeds, UK.; Astbury Centre for Structural Molecular Biology, University of Leeds, Leeds, UK., O'Connell MJ; School of Biology, Faculty of Biological Sciences, University of Leeds, Leeds, UK.; School of Life Sciences, Faculty of Medicine and Health Sciences, University of Nottingham, Nottingham, UK., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Mighell AJ; Department of Oral Biology, School of Dentistry, St James's University Hospital, University of Leeds, Leeds, UK.
Publikováno v:
Human mutation [Hum Mutat] 2021 May; Vol. 42 (5), pp. 567-576. Date of Electronic Publication: 2021 Mar 06.
Autor:
Garrett A; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, London, UK., Durkie M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Callaway A; Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury, Wiltshire, UK.; Human Genetics and Genomic Medicine, University of Southampton Faculty of Medicine, Southampton, UK., Burghel GJ; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University NHS Foundation Trust, Manchester, UK., Robinson R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Drummond J; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, Cambridgeshire, UK., Torr B; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, London, UK., Cubuk C; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, London, UK., Berry IR; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Wallace AJ; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University NHS Foundation Trust, Manchester, UK., Ellard S; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, UK., Eccles DM; Cancer Sciences Research Group, University of Southampton Faculty of Medicine, Southampton, UK., Tischkowitz M; Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, Cambridgeshire, UK., Hanson H; Department of Clinical Genetics, St George's University Hospitals NHS Foundation Trust, London, UK., Turnbull C; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, London, UK clare.turnbull@icr.ac.uk.; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2021 May; Vol. 58 (5), pp. 297-304. Date of Electronic Publication: 2020 Nov 18.
Autor:
Garrett A; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK., Callaway A; Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury, UK.; Human Genetics and Genomic Medicin, Faculty of Medicine, University of Southampton, Southampton, UK., Durkie M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Cubuk C; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK., Alikian M; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK., Burghel GJ; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University NHS Foundation Trust, Manchester, UK., Robinson R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Izatt L; Department of Clinical Genetics, Guy's and Saint Thomas' NHS Foundation Trust, London, UK., Talukdar S; Department of Clinical Genetics, Saint George's University Hospitals NHS Foundation Trust, London, UK., Side L; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Cranston T; Oxford Molecular Genetics Laboratory, Churchill Hospital, Oxford, UK., Palmer-Smith S; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Baralle D; Faculty of Medicine, University of Southampton, Southampton, UK., Berry IR; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Drummond J; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Wallace AJ; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University NHS Foundation Trust, Manchester, UK., Norbury G; Regional Genetics Service, Guy's and Saint Thomas' NHS Foundation Trust, London, UK., Eccles DM; Faculty of Medicine, University of Southampton, Southampton, UK., Ellard S; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Lalloo F; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University NHS Foundation Trust, Manchester, UK., Evans DG; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK., Woodward E; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK., Tischkowitz M; Department of Medical Genetics, National Institute for Health, Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK., Hanson H; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.; Department of Clinical Genetics, Saint George's University Hospitals NHS Foundation Trust, London, UK., Turnbull C; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK clare.turnbull@icr.ac.uk.; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2020 Dec; Vol. 57 (12), pp. 829-834. Date of Electronic Publication: 2020 Mar 13.