{"doi":"10.1038/ng.3469","title":"Timing, rates and spectra of human germline mutation","abstract":null,"journal":"Nature Genetics","year":2016,"id":20632,"datarank":12.532699326597672,"base_score":6.590301048196686,"endowment":6.590301048196686,"self_citation_contribution":0.9885451572295031,"citation_network_contribution":11.54415416936817,"self_endowment_contribution":0.9885451572295031,"citer_contribution":11.54415416936817,"corpus_percentile":null,"corpus_rank":null,"citation_count":727,"citer_count":200,"citers_with_citation_signal":200,"citers_with_endowment":200,"datacite_reuse_total":25,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":133471,"name":"Raheleh Rahbari","orcid":null,"position":1,"is_corresponding":false},{"id":135706,"name":"Arthur Wuster","orcid":null,"position":2,"is_corresponding":false},{"id":135707,"name":"Sarah J Lindsay","orcid":null,"position":3,"is_corresponding":false},{"id":135708,"name":"Robert J Hardwick","orcid":"0000-0003-2218-7761","position":4,"is_corresponding":false},{"id":13201,"name":"Ludmil B. Alexandrov","orcid":"0000-0003-3596-4515","position":5,"is_corresponding":false},{"id":104499,"name":"Saeed Al Turki","orcid":"0000-0001-7017-336X","position":6,"is_corresponding":false},{"id":135709,"name":"Anna Dominiczak","orcid":null,"position":7,"is_corresponding":false},{"id":135710,"name":"Andrew Morris","orcid":null,"position":8,"is_corresponding":false},{"id":5350,"name":"David J. Porteous","orcid":"0000-0003-1249-6106","position":9,"is_corresponding":false},{"id":135711,"name":"Blair Smith","orcid":"0000-0002-5362-9430","position":10,"is_corresponding":false},{"id":133470,"name":"Michael R Stratton","orcid":null,"position":11,"is_corresponding":false},{"id":135712,"name":"Matthew E Hurles","orcid":null,"position":12,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":6.590301048196686,"endowment":6.590301048196686,"datacite_reuse_total":25,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"26656846","pmcid":"PMC4731925","openalex_id":"https://openalex.org/W2201808132","authors":[],"funders":[{"funder_name":"Wellcome Trust","grant_id":"WT098051","title":null},{"funder_name":"Chief Scientist Office","grant_id":"CZD/16/6","title":null},{"funder_name":"Chief Scientist Office","grant_id":"CZD/16/6/4","title":null},{"funder_name":"Medical Research Council","grant_id":"MC_UU_12012/5/B","title":null},{"funder_name":"Wellcome Trust","grant_id":"098051","title":"Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers"},{"funder_name":"Medical Research Council","grant_id":"G9815508","title":null},{"funder_name":"Medical Research Council","grant_id":"MC_PC_15018","title":null},{"funder_name":"National Institute for Health Research (NIHR)","grant_id":"NF-SI-0510-10268","title":null},{"funder_name":"Wellcome Trust","grant_id":"WT091310","title":null},{"funder_name":"Wellcome Trust","grant_id":"102215","title":null},{"funder_name":"Medical Research Council","grant_id":"MR/N005813/1","title":null},{"funder_name":"Wellcome Trust","grant_id":"091310","title":"10,000 UK genome sequences: accessing the role of rare genetic variants in health and disease."}],"total_grants":12,"fwci":21.7088,"citation_percentile":0.99715072,"influential_citations":44,"citation_trend":[{"year":2012,"count":1},{"year":2014,"count":5},{"year":2015,"count":4},{"year":2016,"count":43},{"year":2017,"count":69},{"year":2018,"count":68},{"year":2019,"count":77},{"year":2020,"count":79},{"year":2021,"count":88},{"year":2022,"count":75},{"year":2023,"count":69},{"year":2024,"count":75},{"year":2025,"count":54},{"year":2026,"count":18}],"oa_status":"green","license":"other-oa","oa_locations":[{"url":"https://discovery.dundee.ac.uk/ws/files/9395837/Rahbari_Accepted_version.pdf","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731925","host_type":"GREEN"},{"url":"https://discovery.dundee.ac.uk/ws/files/9395837/Rahbari_Accepted_version.pdf","host_type":"repository"},{"url":"http://www.nature.com/articles/ng.3469.pdf","host_type":"publisher"},{"url":"http://www.nature.com/articles/ng.3469","host_type":"publisher"},{"url":"https://discovery.dundee.ac.uk/en/publications/2528eea6-d4c2-42f6-a35c-ff6df5201de6","host_type":"repository"},{"url":"https://doi.org/10.1038/ng.3469","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/26656846","host_type":"repository"},{"url":"https://eprints.gla.ac.uk/view/journal_volume/Nature_Genetics.html>,","host_type":"journal"},{"url":"https://www.repository.cam.ac.uk/handle/1810/295221","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4731925","host_type":"repository"},{"url":"https://kclpure.kcl.ac.uk/portal/en/publications/f4a76bc7-0e71-47ba-8e48-ad30fb4acb36","host_type":"repository"},{"url":"https://doi.org/10.17863/cam.24796","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC4731925","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC4731925?pdf=render","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/pmc4731925?pdf=render","host_type":""},{"url":"https://dx.doi.org/10.17863/cam.24796","host_type":""},{"url":"http://dx.doi.org/10.1038/ng.3469","host_type":""},{"url":"https://eprints.gla.ac.uk/114411/1/114411.pdf","host_type":""},{"url":"https://dx.doi.org/10.1038/ng.3469","host_type":""},{"url":"https://doi.org/https://doi.org/10.1038/ng.3469","host_type":""}],"fields_of_study":["Cancer Genomics and Diagnostics","Evolution and Genetic Dynamics","DNA Repair Mechanisms","Medicine","Biology","0301 basic medicine","0303 health sciences","03 medical and health sciences","CpG Islands","Female","Germ-Line Mutation","Humans","Male","Mosaicism","Paternal Age","Pedigree"],"mesh_terms":["Female","Humans","Male","Mosaicism","Paternal Age","Pedigree","Germ-Line Mutation","CpG Islands"],"keywords":["Biology","Germline","Germline mutation","Genetics","Germline mosaicism","Mutation","Mutation rate","Mutation Accumulation","Somatic cell","Mutation frequency","Gene","Male","570","Population genetics","Mosaicism","610","Genomics","Article","Paternal Age","Pedigree","Humans","CpG Islands","Female","DNA sequencing","Germ-Line Mutation"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[{"doi":"10.6084/m9.figshare.12432260.v1","title":"Additional file 1 of Origins and characterization of variants shared between databases of somatic and germline human mutations","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12432260","title":"Additional file 1 of Origins and characterization of variants shared between databases of somatic and germline human mutations","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12432269.v1","title":"Additional file 2 of Origins and characterization of variants shared between databases of somatic and germline human mutations","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12432269","title":"Additional file 2 of Origins and characterization of variants shared between databases of somatic and germline human mutations","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12432275.v1","title":"Additional file 3 of Origins and characterization of variants shared between databases of somatic and germline human mutations","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12432275","title":"Additional file 3 of Origins and characterization of variants shared between databases of somatic and germline human mutations","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12432284.v1","title":"Additional file 4 of Origins and characterization of variants shared between databases of somatic and germline human mutations","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12432284","title":"Additional file 4 of Origins and characterization of variants shared between databases of somatic and germline human mutations","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12904655.v1","title":"Additional file 1 of A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.12904655","title":"Additional file 1 of A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.13059433.v1","title":"Additional file 3 of Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.13059433","title":"Additional file 3 of Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524663.v1","title":"Additional file 4 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524663","title":"Additional file 4 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524666.v1","title":"Additional file 5 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524666","title":"Additional file 5 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524669.v1","title":"Additional file 6 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524669","title":"Additional file 6 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524672.v1","title":"Additional file 7 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524672","title":"Additional file 7 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524675.v1","title":"Additional file 8 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524675","title":"Additional file 8 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524678.v1","title":"Additional file 9 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.14524678","title":"Additional file 9 of Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder","publisher":"figshare","resource_type":"JournalArticle"},{"doi":"10.6084/m9.figshare.23292138.v1","title":"Additional file 1 of Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms","publisher":"figshare","resource_type":"JournalArticle"}],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"igsr"},{"name":"ega"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-06T05:57:08.621216Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}