المؤلفون: Hinch, AG, Tandon, A, Patterson, N, Song, Y, Rohland, N, Palmer, CD, Chen, GK, Wang, K, Buxbaum, SG, Akylbekova, EL, Aldrich, MC, Ambrosone, CB, Amos, C, Bandera, EV, Berndt, SI, Bernstein, L, Blot, WJ, Bock, CH, Boerwinkle, E, Cai, Q, Caporaso, N, Casey, G, Adrienne Cupples, L, Deming, SL, Ryan Diver, W, Divers, J, Fornage, M, Gillanders, EM, Glessner, J, Harris, CC, Hu, JJ, Ingles, SA, Isaacs, W, John, EM, Linda Kao, WH, Keating, B, Kittles, RA, Kolonel, LN, Larkin, E, Le Marchand, L, McNeill, LH, Millikan, RC, Musani, S, Neslund-Dudas, C, Nyante, S, Papanicolaou, GJ, Press, MF, Psaty, BM, Reiner, AP, Rich, SS, Rodriguez-Gil, JL, Rotter, JI, Rybicki, BA, Schwartz, AG, Signorello, LB, Spitz, M, Strom, SS, Thun, MJ, Tucker, MA, Wang, Z, Wiencke, JK, Witte, JS, Wrensch, M, Wu, X, Yamamura, Y, Zanetti, KA, Zheng, W, Ziegler, RG, Zhu, X, Redline, S, Hirschhorn, JN, Henderson, BE, Taylor Jr, HA, Price, AL, Hakonarson, H, Chanock, SJ, Haiman, CA, Wilson, JG, Reich, D, Myers, SR

المصدر: Nature.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1064::9cebe969b85eef4105ef94b1540fd507
http://ora.ox.ac.uk/objects/uuid:fc5653af-bd41-4995-9c06-96788dabb79e

المؤلفون: Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Ljungdahl A; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Walker S; Genomics England, London, UK., Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Lemire G; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Martin-Geary AC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Ma J; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ellingford JM; Genomics England, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK., Delage E; Human Genetics, Wellcome Sanger Institute, Hinxton, UK., D'Souza EN; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Dong S; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Adams DR; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Allan K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia., Baldwin EE; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Berger SI; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA., Bhatnagar I; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Chapman K; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Coman DJ; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.; School of Medicine, Griffith university, Gold Coast, Queensland, Australia., Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., D'Souza P; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Danecek P; Human Genetics, Wellcome Sanger Institute, Hinxton, UK., Délot EC; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA., Dias KR; Neuroscience Research Australia, Sydney, New South Wales, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Elias ER; Department of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.; University of Colorado School of Medicine, University of Colorado, Aurora, CO, USA., Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Evans CA; Neuroscience Research Australia, Sydney, New South Wales, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, New South Wales, Australia., Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, North South Wales, Australia., Ezell K; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Fraser JL; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Goriely A; MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; NIHR Biomedical Research Centre, Oxford, UK., Grant CL; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany., Higgs JE; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Hinch AG; Centre for Human Genetics, University of Oxford, Oxford, UK., Hurles ME; Human Genetics, Wellcome Sanger Institute, Hinxton, UK., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Lachlan KL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust, Southampton, UK.; Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lecoquierre F; University of Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Fevre AL; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia., Liebelt JE; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Repromed, Dulwich, South Australia, Australia., Lindsay S; Human Genetics, Wellcome Sanger Institute, Hinxton, UK., Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia., Macnamara EF; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Mansour S; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Maurer TM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Mendez HR; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Metcalfe K; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Montgomery SB; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pathology, Department of Genetics, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA., Moosajee M; UCL Institute of Ophthalmology, London, UK.; The Francis Crick Institute, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK., Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium., Neumann S; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., O'Donoghue M; Nottingham University Hospitals NHS Trust, Nottingham, UK., O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia., Pattani N; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Phillips J; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Pitsava G; Institute for Clinical and Translational Research, University of California Irvine, Irvine, CA, USA., Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Rehm HL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Reuter CM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rius R; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Roscioli T; Neuroscience Research Australia, Sydney, New South Wales, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, New South Wales, Australia., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sachdev R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, New South Wales, Australia., Shaw-Smith CJ; Department of Clinical Genetics, Peninsula Regional Clinical Genetics Service, Royal Devon University Hospital, Exeter, UK., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; UK and Chalfont Centre for Epilepsy, Chalfont St Peter, UK., Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., St Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Stewart HS; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Temple SEL; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Tifft CJ; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Uebergang E; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., VanNoy GE; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Vasudevan P; Medical Genetics, University of Leicester, Leicester Royal Infirmary, Leicester, UK., Vilain E; Institute for Clinical and Translational Science, University of California Irvine, Irvine, CA, USA., Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Wedd L; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Wheeler MT; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Wojcik M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Wolfe LA; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Wolfenson Z; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter, Exeter, UK., Xiao C; Department of Neurology, University of California Irvine, Irvine, CA, USA., Zocche D; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals, London, UK., Rubenstein JL; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Markenscoff-Papadimitriou E; Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Fica SM; Department of Biochemistry, University of Oxford, Oxford, UK., Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Howson JMM; Human Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK., Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Centre for Human Genetics, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. nwhiffin@well.ox.ac.uk.

المصدر: Nature [Nature] 2024 Aug; Vol. 632 (8026), pp. 832-840. Date of Electronic Publication: 2024 Jul 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: RNA, Small Nuclear*/genetics , Neurodevelopmental Disorders*/genetics , Brain*/metabolism, Humans ; Female ; Male ; Heterozygote ; Alleles ; Syndrome ; Spliceosomes/genetics ; Animals

المؤلفون: Hinch R; Big Data Institute, University of Oxford, Oxford, UK., Donnelly P; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Genomics plc, Oxford, UK., Hinch AG; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.

المصدر: Science (New York, N.Y.) [Science] 2023 Dec; Vol. 382 (6674), pp. eadh2531. Date of Electronic Publication: 2023 Dec 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: DNA Breaks, Double-Stranded* , DNA Repair* , Genome, Human* , Meiosis*/genetics , Mutagenesis* , Recombination, Genetic*, Humans ; Male ; Mutation ; Ovum/metabolism ; Semen/metabolism ; Translesion DNA Synthesis ; Female

المؤلفون: Davies B; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom.; The Francis Crick Institute, London NW1 1AT, United Kingdom., Zhang G; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom., Moralli D; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom., Alghadban S; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom., Biggs D; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom., Preece C; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom., Donnelly P; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom.; Genomics PLC, Oxford OX1 1JD, United Kingdom., Hinch AG; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom; anjali.hinch@well.ox.ac.uk.

المصدر: Genome research [Genome Res] 2023 Dec 01; Vol. 33 (11), pp. 2018-2027. Date of Electronic Publication: 2023 Dec 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Meiosis*/genetics , Rad51 Recombinase*/genetics , Rad51 Recombinase*/metabolism , DNA-Binding Proteins*/genetics , DNA-Binding Proteins*/metabolism , Cell Cycle Proteins*/genetics , Cell Cycle Proteins*/metabolism , Mice, Knockout*, Animals ; Mice ; DNA Breaks, Double-Stranded ; Phosphate-Binding Proteins/genetics ; Phosphate-Binding Proteins/metabolism ; Replication Protein A/metabolism ; Replication Protein A/genetics ; Recombination, Genetic ; Male ; CRISPR-Cas Systems ; Gene Knockout Techniques ; Female ; Homologous Recombination

المؤلفون: Evrony GD; Center for Human Genetics and Genomics, Grossman School of Medicine, New York University, New York, NY 10016, USA; email: gilad.evrony@nyulangone.org., Hinch AG; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom; email: anjali@well.ox.ac.uk., Luo C; Department of Human Genetics, University of California, Los Angeles, California 90095, USA; email: cluo@mednet.ucla.edu.

المصدر: Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2021 Aug 31; Vol. 22, pp. 171-197. Date of Electronic Publication: 2021 Mar 15.

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

بيانات الدورية: Publisher: Annual Reviews Country of Publication: United States NLM ID: 100911346 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-293X (Electronic) Linking ISSN: 15278204 NLM ISO Abbreviation: Annu Rev Genomics Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genome* , Genomics*, DNA ; Humans ; RNA ; Sequence Analysis, DNA

المؤلفون: Hinch AG; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. Electronic address: anjali@well.ox.ac.uk., Becker PW; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Li T; Howard Hughes Medical Institute, Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA; Hefei National Laboratory for Physical Sciences at the Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China., Moralli D; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Zhang G; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Bycroft C; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Green C; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Keeney S; Howard Hughes Medical Institute, Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA., Shi Q; Hefei National Laboratory for Physical Sciences at the Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China., Davies B; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Donnelly P; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK; Department of Statistics, University of Oxford, Oxford, UK. Electronic address: donnelly@well.ox.ac.uk.

المصدر: Molecular cell [Mol Cell] 2020 Aug 20; Vol. 79 (4), pp. 689-701.e10. Date of Electronic Publication: 2020 Jun 30.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 9802571 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4164 (Electronic) Linking ISSN: 10972765 NLM ISO Abbreviation: Mol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Homologous Recombination* , Meiosis*, Cell Cycle Proteins/*metabolism , Phosphate-Binding Proteins/*metabolism , Rad51 Recombinase/*metabolism , Replication Protein A/*metabolism, Animals ; Cell Cycle Proteins/genetics ; Chromosomes/genetics ; Chromosomes/metabolism ; Crossing Over, Genetic ; DNA, Single-Stranded/metabolism ; Genome ; Male ; Mice, Inbred C57BL ; Mice, Inbred DBA ; Phosphate-Binding Proteins/genetics ; Rad51 Recombinase/genetics ; Replication Protein A/genetics ; Testis

المؤلفون: Yamada S; Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.; Department of Radiation Genetics, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan., Hinch AG; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom., Kamido H; Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.; Department of Radiation Genetics, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan., Zhang Y; Department of Cell Biology and Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA., Edelmann W; Department of Cell Biology and Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA., Keeney S; Molecular Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.; Howard Hughes Medical Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.

المصدر: Genes & development [Genes Dev] 2020 Jun 01; Vol. 34 (11-12), pp. 806-818. Date of Electronic Publication: 2020 Apr 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 8711660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5477 (Electronic) Linking ISSN: 08909369 NLM ISO Abbreviation: Genes Dev Subsets: MEDLINE

مواضيع طبية MeSH: Meiosis*, DNA Repair/*physiology, Animals ; Chromatin/chemistry ; Chromatin/metabolism ; DNA/chemistry ; DNA Breaks, Double-Stranded ; Histone-Lysine N-Methyltransferase/metabolism ; Mice ; Molecular Structure ; Recombination, Genetic

المؤلفون: Hinch AG; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Zhang G; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Becker PW; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Moralli D; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Hinch R; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Big Data Institute, University of Oxford, Oxford, UK., Davies B; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Bowden R; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Donnelly P; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. donnelly@well.ox.ac.uk.; Department of Statistics, University of Oxford, Oxford, UK.

المصدر: Science (New York, N.Y.) [Science] 2019 Mar 22; Vol. 363 (6433).

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

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science

مواضيع طبية MeSH: Crossing Over, Genetic*, Meiosis/*genetics , Pseudoautosomal Regions/*genetics , Spermatozoa/*cytology, Animals ; Chromatin/metabolism ; DNA Breaks, Double-Stranded ; Histone-Lysine N-Methyltransferase/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Single-Cell Analysis ; Telomere ; Whole Genome Sequencing

المؤلفون: Davies B; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Hatton E; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Altemose N; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK.; Department of Statistics, 24-29 St Giles, Oxford OX1 3LB, UK., Hussin JG; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Pratto F; Genetics and Biochemistry Branch, National Institute of Diabetes, Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA., Zhang G; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Hinch AG; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Moralli D; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Biggs D; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Diaz R; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Preece C; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Li R; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK.; Department of Statistics, 24-29 St Giles, Oxford OX1 3LB, UK., Bitoun E; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Brick K; Genetics and Biochemistry Branch, National Institute of Diabetes, Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA., Green CM; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Camerini-Otero RD; Genetics and Biochemistry Branch, National Institute of Diabetes, Digestive and Kidney Diseases, NIH, Bethesda, Maryland 20892, USA., Myers SR; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK.; Department of Statistics, 24-29 St Giles, Oxford OX1 3LB, UK., Donnelly P; The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK.; Department of Statistics, 24-29 St Giles, Oxford OX1 3LB, UK.

المصدر: Nature [Nature] 2016 Feb 11; Vol. 530 (7589), pp. 171-176. Date of Electronic Publication: 2016 Feb 03.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Speciation* , Protein Engineering*, Histone-Lysine N-Methyltransferase/*chemistry , Histone-Lysine N-Methyltransferase/*metabolism , Hybridization, Genetic/*genetics , Infertility/*genetics , Zinc Fingers/*genetics, Alleles ; Animals ; Binding Sites ; Chromosome Pairing/genetics ; Chromosomes, Mammalian/genetics ; Chromosomes, Mammalian/metabolism ; DNA Breaks, Double-Stranded ; Female ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Male ; Meiosis/genetics ; Mice ; Mice, Inbred C57BL ; Protein Binding ; Protein Structure, Tertiary/genetics ; Recombination, Genetic/genetics

المؤلفون: Hinch AG; Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom., Altemose N; Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom., Noor N; Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom., Donnelly P; Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom., Myers SR; Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, United Kingdom.

المصدر: PLoS genetics [PLoS Genet] 2014 Jul 17; Vol. 10 (7), pp. e1004503. Date of Electronic Publication: 2014 Jul 17 (Print Publication: 2014).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Crossing Over, Genetic* , Recombination, Genetic*, Histone-Lysine N-Methyltransferase/*genetics , Infertility, Male/*genetics, Chromosomes, Human, X/genetics ; Chromosomes, Human, Y/genetics ; Female ; Genetics, Population ; HapMap Project ; Humans ; Linkage Disequilibrium ; Male ; Meiosis/genetics