{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T12:31:44Z","timestamp":1789907504368,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T00:00:00Z","timestamp":1537747200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T00:00:00Z","timestamp":1537747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001592","name":"Higher Education Authority","doi-asserted-by":"publisher","award":["RH5402"],"award-info":[{"award-number":["RH5402"]}],"id":[{"id":"10.13039\/501100001592","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001634","name":"National University of Ireland, Galway","doi-asserted-by":"publisher","award":["RNR921"],"award-info":[{"award-number":["RNR921"]}],"id":[{"id":"10.13039\/501100001634","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","award":["07\/IN1\/B958"],"award-info":[{"award-number":["07\/IN1\/B958"]}],"id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","award":["13\/IA\/1954"],"award-info":[{"award-number":["13\/IA\/1954"]}],"id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011103","name":"Sixth Framework Programme","doi-asserted-by":"publisher","award":["512113"],"award-info":[{"award-number":["512113"]}],"id":[{"id":"10.13039\/100011103","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001590","name":"Health Research Board","doi-asserted-by":"publisher","award":["PR001\/2001"],"award-info":[{"award-number":["PR001\/2001"]}],"id":[{"id":"10.13039\/501100001590","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007287","name":"Worldwide Cancer Research","doi-asserted-by":"publisher","award":["RIN1007"],"award-info":[{"award-number":["RIN1007"]}],"id":[{"id":"10.13039\/501100007287","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C17183\/A23303"],"award-info":[{"award-number":["C17183\/A23303"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1002\/humu.23648","type":"journal-article","created":{"date-parts":[[2018,9,10]],"date-time":"2018-09-10T16:23:44Z","timestamp":1536596624000},"page":"1847-1853","source":"Crossref","is-referenced-by-count":14,"title":["Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome"],"prefix":"10.1155","volume":"39","author":[{"given":"Marta","family":"Llorens-Agost","sequence":"first","affiliation":[{"name":"Centre for Chromosome Biology; National University of Ireland in Galway; Galway Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janna","family":"Luessing","sequence":"additional","affiliation":[{"name":"Centre for Chromosome Biology; National University of Ireland in Galway; Galway Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amandine","family":"van Beneden","sequence":"additional","affiliation":[{"name":"Centre for Chromosome Biology; National University of Ireland in Galway; Galway Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Eykelenboom","sequence":"additional","affiliation":[{"name":"Centre for Chromosome Biology; National University of Ireland in Galway; Galway Ireland"},{"name":"School of Life Sciences; University of Dundee; Dundee Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"O'Reilly","sequence":"additional","affiliation":[{"name":"Oxford Stem Cell Institute; University of Oxford; Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise S","family":"Bicknell","sequence":"additional","affiliation":[{"name":"Department of Pathology; Dunedin School of Medicine; University of Otago; Dunedin New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J","family":"Reynolds","sequence":"additional","affiliation":[{"name":"Institute of Cancer and Genomic Sciences; University of Birmingham; Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"van Koegelenberg","sequence":"additional","affiliation":[{"name":"Wellcome Trust Sanger Institute; Wellcome Genome Campus; Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew E","family":"Hurles","sequence":"additional","affiliation":[{"name":"Wellcome Trust Sanger Institute; Wellcome Genome Campus; Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela F","family":"Brady","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service; Northwick Park Hospital; Harrow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew P","family":"Jackson","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburg Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grant S","family":"Stewart","sequence":"additional","affiliation":[{"name":"Institute of Cancer and Genomic Sciences; University of Birmingham; Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3216-4427","authenticated-orcid":false,"given":"Noel F","family":"Lowndes","sequence":"additional","affiliation":[{"name":"Centre for Chromosome Biology; National University of Ireland in Galway; Galway Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,24]]},"reference":[{"issue":"10","key":"10.1002\/humu.23648-BIB0001|humu23648-cit-0001","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmg.2004.029538","article-title":"Splicing in action: Assessing disease causing sequence changes","volume":"42","author":"Baralle","year":"2005","journal-title":"Journal of Medical Genetics"},{"issue":"4","key":"10.1002\/humu.23648-BIB0002|humu23648-cit-0002","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: Exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nature Reviews Genetics"},{"issue":"4","key":"10.1002\/humu.23648-BIB0003|humu23648-cit-0003","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1016\/j.celrep.2013.10.027","article-title":"ATR activates the S-M checkpoint during unperturbed growth to ensure sufficient replication prior to mitotic onset","volume":"5","author":"Eykelenboom","year":"2013","journal-title":"Cell Reports"},{"issue":"1","key":"10.1002\/humu.23648-BIB0004|humu23648-cit-0004","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.mcn.2006.10.004","article-title":"SR protein 9G8 modulates splicing of tau exon 10 via its proximal downstream intron, a clustering region for frontotemporal dementia mutations","volume":"34","author":"Gao","year":"2007","journal-title":"Molecular and Cellular Neuroscience"},{"issue":"6285","key":"10.1002\/humu.23648-BIB0005|humu23648-cit-0005","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1126\/science.aad9417","article-title":"RNA splicing is a primary link between genetic variation and disease","volume":"352","author":"Li","year":"2016","journal-title":"Science"},{"issue":"9","key":"10.1002\/humu.23648-BIB0006|humu23648-cit-0006","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1016\/j.febslet.2005.02.047","article-title":"Are splicing mutations the most frequent cause of hereditary disease","volume":"579","author":"Lopez-Bigas","year":"2005","journal-title":"FEBS Letters"},{"issue":"2","key":"10.1002\/humu.23648-BIB0007|humu23648-cit-0007","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/humu.22245","article-title":"Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations","volume":"34","author":"Mokrani-Benhelli","year":"2013","journal-title":"Human Mutation"},{"issue":"4","key":"10.1002\/humu.23648-BIB0008|humu23648-cit-0008","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/ng1129","article-title":"A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome","volume":"33","author":"O'Driscoll","year":"2003","journal-title":"Nature Genetics"},{"issue":"11","key":"10.1002\/humu.23648-BIB0009|humu23648-cit-0009","doi-asserted-by":"crossref","first-page":"e1002945","DOI":"10.1371\/journal.pgen.1002945","article-title":"Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome","volume":"8","author":"Ogi","year":"2012","journal-title":"PLoS Genetics"},{"issue":"4","key":"10.1002\/humu.23648-BIB0010|humu23648-cit-0010","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.tig.2012.01.001","article-title":"New connections between splicing and human disease","volume":"28","author":"Padgett","year":"2012","journal-title":"Trends in Genetics"},{"issue":"4","key":"10.1002\/humu.23648-BIB0011|humu23648-cit-0011","doi-asserted-by":"crossref","first-page":"351","DOI":"10.4161\/rna.28458","article-title":"BRCA1 exon 11 a model of long exon splicing regulation","volume":"11","author":"Raponi","year":"2014","journal-title":"RNA Biology"},{"issue":"3","key":"10.1002\/humu.23648-BIB0012|humu23648-cit-0012","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/S1097-2765(04)00025-5","article-title":"Arginine-serine-rich domains bound at splicing enhancers contact the branchpoint to promote prespliceosome assembly","volume":"13","author":"Shen","year":"2004","journal-title":"Molecular Cell"},{"issue":"5","key":"10.1002\/humu.23648-BIB0013|humu23648-cit-0013","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1261\/rna.876308","article-title":"Splicing regulation: From a parts list of regulatory elements to an integrated splicing code","volume":"14","author":"Wang","year":"2008","journal-title":"RNA"},{"issue":"6","key":"10.1002\/humu.23648-BIB0014|humu23648-cit-0014","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1016\/j.cell.2014.02.037","article-title":"Silent mutations make some noise","volume":"156","author":"Zheng","year":"2014","journal-title":"Cell"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23648","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.23648\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:59Z","timestamp":1672332959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,24]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23648","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,9,24]]}}}