{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T22:40:11Z","timestamp":1792017611707,"version":"4.4.0"},"reference-count":66,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T00:00:00Z","timestamp":1662940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,9,12]],"date-time":"2022-09-12T00:00:00Z","timestamp":1662940800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1002\/humu.24462","type":"journal-article","created":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T13:50:05Z","timestamp":1662126605000},"page":"2295-2307","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A calibrated cell\u2010based functional assay to aid classification of\n                    <i>MLH1<\/i>\n                    DNA mismatch repair gene variants"],"prefix":"10.1155","volume":"43","author":[{"given":"Abhijit","family":"Rath","sequence":"first","affiliation":[{"name":"Center for Molecular Oncology UConn Health Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander A.","family":"Radecki","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology UConn Health Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaussar","family":"Rahman","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology UConn Health Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel B.","family":"Gilmore","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Sciences UConn Health Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan R.","family":"Hudson","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Sciences UConn Health Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Cenci","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology UConn Health Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7543-8221","authenticated-orcid":false,"given":"Sean V.","family":"Tavtigian","sequence":"additional","affiliation":[{"name":"Department of Oncological Sciences, Huntsman Cancer Institute University of Utah School of Medicine Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James P.","family":"Grady","sequence":"additional","affiliation":[{"name":"Connecticut Institute for Clinical and Translational Science UConn Health Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4338-6858","authenticated-orcid":false,"given":"Christopher D.","family":"Heinen","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology UConn Health Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0800276105"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22142"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2019.03.071"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0690-2"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23609"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdg216"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.27.0652"},{"key":"e_1_2_7_9_1","unstructured":"ClinVar.https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky354"},{"key":"e_1_2_7_11_1","unstructured":"CRISPOR.http:\/\/crispor.tefor.net\/"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0736-2"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0372-2"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21180"},{"issue":"9","key":"e_1_2_7_15_1","first-page":"2447","article-title":"Mutations at coding repeat sequences in mismatch repair\u2010deficient human cancers: Toward a new concept of target genes for instability","volume":"62","author":"Duval A.","year":"2002","journal-title":"Cancer Research"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.803252"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R115.660142"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2019.12.001"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2019.03.009"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.17.5950"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-011-9431-4"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/1897-4287-10-9"},{"key":"e_1_2_7_23_1","unstructured":"HGVS Sequence Variant Nomenclature.http:\/\/varnomen.hgvs.org"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-12-3299"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106520"},{"key":"e_1_2_7_26_1","unstructured":"InSiGHT MMR Gene Variant Classification Criteria.https:\/\/www.insight-group.org\/criteria\/"},{"key":"e_1_2_7_27_1","unstructured":"InSiGHT MMR Gene Variant Evaluation.http:\/\/insight-database.org\/classifications\/mmr_integrative_eval.html"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.12.003"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a012633"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.145"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22536"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2015.11.009"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21301"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.74.082803.133243"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.18.00283"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13030467"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2015.11.019"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature20562"},{"key":"e_1_2_7_39_1","unstructured":"LOVD.http:\/\/hci-lovd.hci.utah.edu\/home.php?select_db=MLH1_priors"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3878"},{"key":"e_1_2_7_41_1","unstructured":"MAPP\u2010MMR.http:\/\/mappmmr.blueankh.com\/"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2012.13088"},{"key":"e_1_2_7_43_1","unstructured":"Mutalyzer.https:\/\/mutalyzer.nl\/index"},{"key":"e_1_2_7_44_1","unstructured":"OMIM.https:\/\/www.omim.org"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-016-9882-8"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl944"},{"key":"e_1_2_7_47_1","unstructured":"PolyPhen2.http:\/\/genetics.bwh.harvard.edu\/pph2\/"},{"key":"e_1_2_7_48_1","unstructured":"PON\u2010MMR2.http:\/\/structure.bmc.lu.se\/PON-MMR2\/"},{"key":"e_1_2_7_49_1","unstructured":"Prior Probabilities.http:\/\/priors.hci.utah.edu\/PRIORS\/BRCA\/indexMLH1.php"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22168"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23848"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.3758\/BF03195354"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymeth.2019.06.016"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2014.06.011"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005756"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-3509"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.210"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22213"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12450"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2854"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20796"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23117"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1089\/nat.2019.0790"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2014.04.020"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.12.6850"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2016.71.0012"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24462","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24462","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24462","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:55:48Z","timestamp":1672314948000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,12]]},"references-count":66,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/humu.24462"],"URL":"https:\/\/doi.org\/10.1002\/humu.24462","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2021.12.14.472580","asserted-by":"object"}]},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,12]]},"assertion":[{"value":"2022-01-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}