{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:52:13Z","timestamp":1775307133184,"version":"3.50.1"},"reference-count":27,"publisher":"Hindawi Limited","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,5]]},"DOI":"10.1002\/humu.22967","type":"journal-article","created":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T09:12:52Z","timestamp":1455009172000},"page":"488-494","source":"Crossref","is-referenced-by-count":15,"title":["Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease"],"prefix":"10.1155","volume":"37","author":[{"given":"Thomas","family":"Smith","sequence":"first","affiliation":[{"name":"School of Life Sciences; University of Sussex; Brighton United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gladys","family":"Ho","sequence":"additional","affiliation":[{"name":"NSW Centre for Rett Syndrome Research; Western Sydney Genetics Program; Children's Hospital at Westmead; Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"NSW Centre for Rett Syndrome Research; Western Sydney Genetics Program; Children's Hospital at Westmead; Sydney Australia"},{"name":"Disciplines of Paediatrics and Child Health and Genetic Medicine; Sydney Medical School; University of Sydney; Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth Ann","family":"Price","sequence":"additional","affiliation":[{"name":"Retinoblastoma Genetic Screening Unit; Barts Health NHS Trust; The Royal London Hospital; 80 Newark Street London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zerrin","family":"Onadim","sequence":"additional","affiliation":[{"name":"Retinoblastoma Genetic Screening Unit; Barts Health NHS Trust; The Royal London Hospital; 80 Newark Street London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Gauthier-Villars","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique; Institut Curie; Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Dehainault","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique; Institut Curie; Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Houdayer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique; Institut Curie; Paris France"},{"name":"INSERM U830; centre de recherche de l'Institut Curie; Paris France"},{"name":"Universit\u00e9 Paris Descartes; Sorbonne Paris Cit\u00e9; Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatrice","family":"Parfait","sequence":"additional","affiliation":[{"name":"EA7331, Facult\u00e9 de Pharmacie de Paris, Universit\u00e9 Paris Descartes; Sorbonne Paris Cit\u00e9; Paris France"},{"name":"Service de Biochimie et de G\u00e9n\u00e9tique Mol\u00e9culaire; H\u00f4pital Cochin; AP-HP Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rick","family":"van Minkelen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; Erasmus Medical Center; Rotterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dietmar","family":"Lohman","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen; Universit\u00e4t Duisburg-Essen; Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Eyre-Walker","sequence":"additional","affiliation":[{"name":"School of Life Sciences; University of Sussex; Brighton United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2016,3,14]]},"reference":[{"issue":"2","key":"10.1002\/humu.22967-BIB0001|humu22967-cit-0001","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1042\/BSR20110060","article-title":"Alternative splicing of the neurofibromatosis type I pre-mRNA","volume":"32","author":"Barron","year":"2012","journal-title":"Biosci Rep"},{"key":"10.1002\/humu.22967-BIB0026|humu22967-cit-0026","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1093\/nar\/8.7.1499","article-title":"DNA methylation and the frequency of CpG in animal DNA","volume":"8","author":"Bird","year":"1980","journal-title":"Nucl Acid Res"},{"key":"10.1002\/humu.22967-BIB0002|humu22967-cit-0002","first-page":"322","article-title":"Neighbouring base effects on substitution rates in pseudogenes","volume":"3","author":"Bulmer","year":"1986","journal-title":"Mol Biol Evol"},{"issue":"5","key":"10.1002\/humu.22967-BIB0003|humu22967-cit-0003","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1002\/humu.10194","article-title":"RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution","volume":"21","author":"Christodoulou","year":"2003","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1002\/humu.22967-BIB0004|humu22967-cit-0004","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/BF00276326","article-title":"The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions","volume":"85","author":"Cooper","year":"1990","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22967-BIB0005|humu22967-cit-0005","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1038\/274775a0","article-title":"Molecular basis of base substitution hotspots in Escherichia coli","volume":"274","author":"Coulondre","year":"1978","journal-title":"Nature"},{"issue":"9","key":"10.1002\/humu.22967-BIB0006|humu22967-cit-0006","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1534\/g3.114.012849","article-title":"How much of the variation in the mutation rate along the human genome can be explained?","volume":"4","author":"Eyre-Walker","year":"2014","journal-title":"Genes Genomes Genet"},{"issue":"7","key":"10.1002\/humu.22967-BIB0007|humu22967-cit-0007","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1038\/ng.3292","article-title":"Genome-wide patterns and properties of de novo mutations in humans","volume":"47","author":"Francioli","year":"2015","journal-title":"Nat Genet"},{"issue":"3","key":"10.1002\/humu.22967-BIB0008|humu22967-cit-0008","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1093\/molbev\/msi043","article-title":"CpG mutation rates in the human genome are highly dependent on local GC content","volume":"22","author":"Fryxell","year":"2005","journal-title":"Mol Biol Evol"},{"key":"10.1002\/humu.22967-BIB0009|humu22967-cit-0009","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1007\/BF01733904","article-title":"Patterns of nucleotide substitution in pseudogenes and functional genes","volume":"18","author":"Gojobori","year":"1982","journal-title":"J Mol Evol"},{"issue":"2","key":"10.1002\/humu.22967-BIB0010|humu22967-cit-0010","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.ajhg.2011.12.017","article-title":"Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease","volume":"90","author":"Goriely","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"11","key":"10.1002\/humu.22967-BIB0011|humu22967-cit-0011","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1038\/nrg3098","article-title":"Variation in the mutation rate across mammalian genomes","volume":"12","author":"Hodgkinson","year":"2011","journal-title":"Nat Rev Genet"},{"issue":"2","key":"10.1002\/humu.22967-BIB0012|humu22967-cit-0012","doi-asserted-by":"crossref","first-page":"e27","DOI":"10.1371\/journal.pbio.1000027","article-title":"Cryptic variation in the human mutation rate","volume":"7","author":"Hodgkinson","year":"2009","journal-title":"PLoS Biol"},{"issue":"39","key":"10.1002\/humu.22967-BIB0013|humu22967-cit-0013","doi-asserted-by":"crossref","first-page":"13994","DOI":"10.1073\/pnas.0404142101","article-title":"Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution","volume":"101","author":"Hwang","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22967-BIB0014|humu22967-cit-0014","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1093\/gbe\/evr044","article-title":"Mutation rate distribution inferred from coincident SNPs and coincident substitutions","volume":"3","author":"Johnson","year":"2011","journal-title":"Genome Biol Evol"},{"issue":"7412","key":"10.1002\/humu.22967-BIB0015|humu22967-cit-0015","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/nature11396","article-title":"Rate of de novo mutations and the importance of father's age to disease risk","volume":"488","author":"Kong","year":"2012","journal-title":"Nature"},{"issue":"5","key":"10.1002\/humu.22967-BIB0016|humu22967-cit-0016","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1093\/nar\/gkh349","article-title":"The major form of MeCP2 has a novel N-terminus generated by alternative splicing","volume":"32","author":"Kriaucionis","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22967-BIB0017|humu22967-cit-0017","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/S0960-9822(99)80361-3","article-title":"Chromosomal location effects on gene sequence evolution in mammals","volume":"9","author":"Matassi","year":"1999","journal-title":"Curr Biol"},{"issue":"7","key":"10.1002\/humu.22967-BIB0018|humu22967-cit-0018","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1016\/j.cell.2012.11.019","article-title":"Whole-genome sequencing in autism identifies hot spots for de novo germline mutation","volume":"151","author":"Michaelson","year":"2012","journal-title":"Cell"},{"key":"10.1002\/humu.22967-BIB0019|humu22967-cit-0019","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1093\/genetics\/156.1.297","article-title":"Estimate of the mutation rate per nucleotide in humans","volume":"156","author":"Nachman","year":"2000","journal-title":"Genetics"},{"issue":"3","key":"10.1002\/humu.22967-BIB0020|humu22967-cit-0020","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1136\/jmedgenet-2013-101821","article-title":"Spectrum of RB1 mutations identified in 403 retinoblastoma patients","volume":"51","author":"Price","year":"2014","journal-title":"J Med Genet"},{"issue":"2","key":"10.1002\/humu.22967-BIB0021|humu22967-cit-0021","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/humu.20394","article-title":"Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma","volume":"28","author":"Sanchez-Sanchez","year":"2007","journal-title":"Hum Mutat"},{"issue":"9","key":"10.1002\/humu.22967-BIB0022|humu22967-cit-0022","doi-asserted-by":"crossref","first-page":"e148","DOI":"10.1371\/journal.pgen.0020148","article-title":"The influence of recombination on human genetic diversity","volume":"2","author":"Spencer","year":"2006","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.22967-BIB0027|humu22967-cit-0027","doi-asserted-by":"crossref","first-page":"4692","DOI":"10.1073\/pnas.87.12.4692","article-title":"The expected equilibrium of the CpG dinucleotide in vertebrate genomes under a mutation model","volume":"87","author":"Sved","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"10.1002\/humu.22967-BIB0023|humu22967-cit-0023","doi-asserted-by":"crossref","first-page":"R76","DOI":"10.1186\/gb-2008-9-4-r76","article-title":"Human-macaque comparisons illuminate variation in neutral substitution rates","volume":"9","author":"Tyekucheva","year":"2008","journal-title":"Genome Biol"},{"key":"10.1002\/humu.22967-BIB0024|humu22967-cit-0024","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1111\/j.1420-9101.2005.00917.x","article-title":"Combining probability from independent tests: the weighted Z-method is siperior to Fisher's approach","volume":"18","author":"Whitlock","year":"2005","journal-title":"J Evol Biol"},{"issue":"11","key":"10.1002\/humu.22967-BIB0025|humu22967-cit-0025","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1101\/gr.287302","article-title":"Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome","volume":"12","author":"Zhao","year":"2002","journal-title":"Genome Res"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22967","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.22967","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T20:19:01Z","timestamp":1692217141000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22967"}},"subtitle":["HUMAN MUTATION"],"short-title":[],"issued":{"date-parts":[[2016,3,14]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22967","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3,14]]}}}