المؤلفون: Wuennemann, F, Ta-Shma, A, Preuss, C, Leclerc, S, van Vliet, PP, Oneglia, A, Thibeault, M, Nordquist, E, Lincoln, J, Scharfenberg, F, Becker-Pauly, C, Hofmann, P, Hoff, K, Audain, E, Kramer, HH, Makalowski, W, Nir, A, Gerety, SS, Hurles, M, Comes, J, Fournier, A, Osinska, H, Robins, J, Puceat, M, Elpeleg, O, Hitz, MP, Andelfinger, G, Dietz, HC, McCallion, AS, Loeys, BL, Van Laer, L, Eriksson, P, Mohamed, SA, Mertens, L, Franco-Cereceda, A, Mital, S

المصدر: Nature genetics. 52(1):40

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142998779

المؤلفون: Singh, T, Kurki, MI, Curtis, D, Purcell, SM, Crooks, L, Mcrae, J, Suvisaari, J, Chheda, H, Blackwood, D, Breen, G, Pietilainen, O, Gerety, SS, Ayub, M, Blyth, M, Cole, T, Collier, D, Coomber, EL, Craddock, N, Daly, MJ, Danesh, J, DiForti, M, Foster, A, Freimer, NB, Geschwind, D, Johnstone, M, Joss, S, Kirov, G, Korkko, J, Kuismin, O, Holmans, P, Hultman, CM, Iyegbe, C, Lonnqvist, J, Mannikko, M, McCarroll, SA, McGuffin, P, McIntosh, AM, McQuillin, A, Moilanen, JS, Moore, C, Murray, RM, Newbury-Ecob, R, Ouwehand, W, Paunio, T, Prigmore, E, Rees, E, Roberts, D, Sambrook, J, Sklar, P, St Clair, D, Veijola, J, Walters, JTR, Williams, H, Sullivan, PF, Hurles, ME, O'Donovan, MC, Palotie, A, Owen, MJ, Barrett, JC

المصدر: Nature neuroscience. 19(4):571

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133266719

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المؤلفون: Waters AJ; Wellcome Sanger Institute, Hinxton, UK. aw28@sanger.ac.uk., Brendler-Spaeth T; Wellcome Sanger Institute, Hinxton, UK., Smith D; Wellcome Sanger Institute, Hinxton, UK., Offord V; Wellcome Sanger Institute, Hinxton, UK., Tan HK; Wellcome Sanger Institute, Hinxton, UK., Zhao Y; Metabolic Research Laboratory, Wellcome-MRC Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK., Obolenski S; Wellcome Sanger Institute, Hinxton, UK., Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Doorn R; Department of Dermatology, Leiden University Medical Center, Leiden, the Netherlands., Murphy JE; Foundation Medicine Inc., Cambridge, MA, USA., Gupta P; Wellcome Sanger Institute, Hinxton, UK., Rowlands CF; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Hanson H; Department of Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Delage E; Wellcome Sanger Institute, Hinxton, UK., Thomas M; Wellcome Sanger Institute, Hinxton, UK., Radford EJ; Wellcome Sanger Institute, Hinxton, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK., Gerety SS; Wellcome Sanger Institute, Hinxton, UK., Turnbull C; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.; National Cancer Registration and Analysis Service, NHS England, London, UK.; Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London, UK., Perry JRB; Metabolic Research Laboratory, Wellcome-MRC Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK., Hurles ME; Wellcome Sanger Institute, Hinxton, UK., Adams DJ; Wellcome Sanger Institute, Hinxton, UK. da1@sanger.ac.uk.

المصدر: Nature genetics [Nat Genet] 2024 Jul; Vol. 56 (7), pp. 1434-1445. Date of Electronic Publication: 2024 Jul 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Germ-Line Mutation*/genetics , Ubiquitin Thiolesterase*/genetics , Tumor Suppressor Proteins*/genetics , Gene Editing*/methods, Humans ; Neoplasms/genetics ; Genetic Predisposition to Disease ; Pedigree ; Female ; Male

المؤلفون: Radford EJ; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.; Department of Paediatrics, University of Cambridge, Level 8, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Tan HK; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Andersson MHL; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Stephenson JD; EMBL-EBI, Wellcome Genome Campus, Hinxton, CB10 1SD, UK., Gardner EJ; MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Ironfield H; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Waters AJ; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Gitterman D; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Lindsay S; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Abascal F; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Martincorena I; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Kolesnik-Taylor A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Ng-Cordell E; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.; Department of Psychology, University of British Columbia, Vancouver, Canada., Firth HV; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK., Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.; Department of Medical Genetics, University of Cambridge, Cambridge, UK., Perry JRB; MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Adams DJ; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Gerety SS; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK., Hurles ME; Wellcome Sanger Institute, Hinxton, CB10 1SA, UK. meh@sanger.ac.uk.

المصدر: Nature communications [Nat Commun] 2023 Dec 06; Vol. 14 (1), pp. 7702. Date of Electronic Publication: 2023 Dec 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Neoplasms*/genetics, Female ; Humans ; Gene Editing ; Virulence ; Germ Cells ; Germ-Line Mutation ; DEAD-box RNA Helicases/genetics

المؤلفون: Levitin MO; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Evox Therapeutics Limited, Oxford OX4 4HG, UK., Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK., Sanchez-Andrade G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Arshad OA; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Collins SC; INSERM Unit 1231, Université de Bourgogne Franche-Comté, Dijon 21078, France., Sawiak SJ; Behavioural and Clinical Neuroscience Institute, University of Cambridge, Cambridge CB2 3EB, UK.; Wolfson Brain Imaging Centre, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Iffland PH 2nd; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Andersson MHL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Bupp C; Spectrum Health, Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA., Cambridge EL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Coomber EL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Ellis I; Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool L14 5AB, UK., Herkert JC; Department of Genetics, University Medical Centre, University of Groningen, Groningen 9713 GZ, The Netherlands., Ironfield H; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Jory L; Haven Clinical Psychology Practice Ltd, Bude, Cornwall EX23 9HP, UK., Kretz PF; IGBMC, UMR7104, INSERM, Illkirch 67404, France., Kant SG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3015 GD, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., Neaverson A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK., Nibbeling E; Laboratory for Diagnostic Genome Analysis, Department of Clinical Genetics, Leiden University Medical Center, Leiden 3015 GD, The Netherlands., Rowley C; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Institute of Metabolic Science, Cambridge University, Cambridge CB2 0QQ, UK., Relton E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Faculty of Health and Medical Science, University of Surrey, Guildford GU2 7YH, UK., Sanderson M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Scott EM; New Leaf Center, Clinic for Special Children, Mount Eaton, OH 44659, USA., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK., Shuen AY; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5W9, Canada., Schreiber J; Department of Neurology, Children's National Medical Center, Washington DC 20007, USA., Tuck L; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Tonks J; Haven Clinical Psychology Practice Ltd, Bude, Cornwall EX23 9HP, UK., Terkelsen T; Department of Clinical Genetics, Aarhus University Hospital, Aarhus DK-8200, Denmark., van Ravenswaaij-Arts C; Department of Genetics, University Medical Centre, University of Groningen, Groningen 9713 GZ, The Netherlands., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK., Wenger O; New Leaf Center, Clinic for Special Children, Mount Eaton, OH 44659, USA., Wright M; Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne NE1 7RU, UK., Day A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Qkine Ltd., Cambridge CB5 8HW, UK., Hunter A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Patel M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Lelliott CJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Institute of Metabolic Science, Cambridge University, Cambridge CB2 0QQ, UK., Crino PB; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Yalcin B; INSERM Unit 1231, Université de Bourgogne Franche-Comté, Dijon 21078, France., Crosby AH; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK., Baple EL; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK., Logan DW; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Waltham Petcare Science Institute, Waltham on the Wolds LE14 4RT, UK., Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Gerety SS; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

المصدر: Brain : a journal of neurology [Brain] 2023 Nov 02; Vol. 146 (11), pp. 4766-4783.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Signal Transduction*/genetics , TOR Serine-Threonine Kinases*/metabolism, Humans ; Animals ; Mice ; Brain/metabolism ; Mechanistic Target of Rapamycin Complex 1/metabolism ; Cognition ; Microfilament Proteins/genetics

المؤلفون: Huang Y; Research and Development, Biogen Inc., Cambridge, MA, USA. yunfeng.huang@biogen.com., Bodnar D; Research and Development, Biogen Inc., Cambridge, MA, USA., Chen CY; Research and Development, Biogen Inc., Cambridge, MA, USA., Sanchez-Andrade G; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Sanderson M; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Shi J; Research and Development, Biogen Inc., Cambridge, MA, USA., Meilleur KG; Research and Development, Biogen Inc., Cambridge, MA, USA., Hurles ME; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Gerety SS; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Tsai EA; Research and Development, Biogen Inc., Cambridge, MA, USA., Runz H; Research and Development, Biogen Inc., Cambridge, MA, USA. heiko.runz@gmail.com.

مؤلفون مشاركون: Biogen Biobank Team

المصدر: Nature communications [Nat Commun] 2023 Jun 10; Vol. 14 (1), pp. 3449. Date of Electronic Publication: 2023 Jun 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Hand Strength* , Muscular Diseases*, Humans ; Muscle Strength/genetics ; Mutation, Missense ; Genetic Predisposition to Disease ; Carrier Proteins