{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:26:09Z","timestamp":1793906769698,"version":"4.8.0"},"reference-count":49,"publisher":"Informa UK Limited","issue":"9","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"crossref","award":["Cambridge Biomedical Research Centre"],"award-info":[{"award-number":["Cambridge Biomedical Research Centre"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["www.tandfonline.com"],"crossmark-restriction":true},"short-container-title":["Epigenomics"],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.2217\/epi-2021-0521","type":"journal-article","created":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T07:21:35Z","timestamp":1651648895000},"page":"537-547","update-policy":"https:\/\/doi.org\/10.1080\/tandf_crossmark_01","source":"Crossref","is-referenced-by-count":20,"title":["Comparison of Methylation Episignatures in\n            <i>KMT2B<\/i>\n            - and\n            <i>KMT2D<\/i>\n            -Related Human Disorders"],"prefix":"10.1080","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2806-3268","authenticated-orcid":false,"given":"Sunwoo","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eguzkine","family":"Ochoa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"Barwick","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, WC1N 1DZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Cif","sequence":"additional","affiliation":[{"name":"Departement de Neurochirurgie, Unite des Pathologies Cerebrales Resistantes, Unite de Recherche sur les Comportements et Mouvements Anormaux, Hopital Gui de Chauliac, Centre Hospitalier R\u00e9gional Montpellier, Montpellier, France, &amp; Faculte de Medecine, Universite de\rMontpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fay","family":"Rodger","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"},{"name":"Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Docquier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"},{"name":"Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4979-2788","authenticated-orcid":false,"given":"Bel\u00e9n","family":"P\u00e9rez-Due\u00f1as","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, WC1N 1DZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme","family":"Clark","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"},{"name":"Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ezequiel","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"},{"name":"Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8527-2210","authenticated-orcid":false,"given":"Siddharth","family":"Banka","sequence":"additional","affiliation":[{"name":"Division of Evolution, Infection &amp; Genomics, School of Biological Sciences, Faculty of Biology, Medicine &amp; Health, The University of Manchester, Manchester, UK, &amp; Manchester Centre for Genomic Medicine, St. Mary\u2019s Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, Manchester, M13 9WL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3529-5075","authenticated-orcid":false,"given":"Manju A","family":"Kurian","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, WC1N 1DZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6226-6918","authenticated-orcid":false,"given":"Eamonn R","family":"Maher","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2022,5,4]]},"reference":[{"key":"e_1_3_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2012.11.006"},{"key":"e_1_3_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2011.22"},{"key":"e_1_3_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/emm.2017.11"},{"key":"e_1_3_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41594-019-0298-7"},{"key":"e_1_3_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"e_1_3_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.10.010"},{"key":"e_1_3_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.003"},{"key":"e_1_3_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_3_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.021"},{"key":"e_1_3_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.013"},{"key":"e_1_3_7_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/2021.04.22.440945"},{"key":"e_1_3_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0023-0"},{"key":"e_1_3_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105625"},{"key":"e_1_3_7_15_1","article-title":"Kabuki syndrome","author":"Adam MP","year":"2021","unstructured":"Adam MP , HudginsL , HannibalM. Kabuki syndrome. GeneReviews\u00ae (2021).","journal-title":"GeneReviews\u00ae"},{"key":"e_1_3_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01119-8"},{"key":"e_1_3_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3740"},{"key":"e_1_3_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27771"},{"key":"e_1_3_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.11.009"},{"key":"e_1_3_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa304"},{"key":"e_1_3_7_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-021-01145-y"},{"key":"e_1_3_7_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-019-1007-y"},{"key":"e_1_3_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23833"},{"key":"e_1_3_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.008"},{"key":"e_1_3_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.004"},{"key":"e_1_3_7_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/15592294.2017.1381807"},{"key":"e_1_3_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-021-01095-1"},{"key":"e_1_3_7_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-01096-4"},{"key":"e_1_3_7_29_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.243584.118"},{"key":"e_1_3_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.01.019"},{"key":"e_1_3_7_31_1","unstructured":"NGS Methyl-Seq libraries. (Accessed 30September2021). https:\/\/sapac.illumina.com\/products\/by-type\/sequencing-kits\/library-prep-kits\/truseq-methyl-capture-epic.html"},{"key":"e_1_3_7_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"e_1_3_7_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3115"},{"key":"e_1_3_7_34_1","doi-asserted-by":"publisher","DOI":"10.2202\/1544-6115.1027"},{"key":"e_1_3_7_35_1","unstructured":"Leek JT JohnsonWE ParkerHS JaffeAE StoreyJD. sva: Surrogate Variable Analysis R package version 3.10.0. www.Bioconductor.Org\/Packages\/Release\/Bioc\/Html\/Sva.Html (2014)."},{"key":"e_1_3_7_36_1","doi-asserted-by":"publisher","DOI":"10.1080\/0266476022000023767"},{"key":"e_1_3_7_37_1","first-page":"757","article-title":"Evidence for 28 genetic disorders discovered by combining healthcare and research data","volume":"586","author":"Kaplanis J","year":"2020","unstructured":"Kaplanis J , SamochaKE , WielLet al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 2020586, 757\u2013762 (2020).","journal-title":"Nature 2020"},{"key":"e_1_3_7_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980328)81:2<186::AID-AJMG11>3.0.CO;2-D"},{"key":"e_1_3_7_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q"},{"key":"e_1_3_7_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1126"},{"key":"e_1_3_7_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.007"},{"key":"e_1_3_7_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.09.009"},{"key":"e_1_3_7_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbabio.2012.11.005"},{"key":"e_1_3_7_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab360\/6378248"},{"key":"e_1_3_7_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-0618-1"},{"key":"e_1_3_7_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.09.011"},{"key":"e_1_3_7_47_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0502506102"},{"key":"e_1_3_7_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-323-44733-1.00095-X"},{"key":"e_1_3_7_49_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.26.15245"},{"key":"e_1_3_7_50_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.00-0562fje"}],"container-title":["Epigenomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.tandfonline.com\/doi\/pdf\/10.2217\/epi-2021-0521","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T13:25:41Z","timestamp":1715952341000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.tandfonline.com\/doi\/full\/10.2217\/epi-2021-0521"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5]]},"references-count":49,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.2217\/epi-2021-0521"],"URL":"https:\/\/doi.org\/10.2217\/epi-2021-0521","relation":{},"ISSN":["1750-1911","1750-192X"],"issn-type":[{"value":"1750-1911","type":"print"},{"value":"1750-192X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5]]},"assertion":[{"value":"The publishing and review policy for this title is described in its Aims & Scope.","order":1,"name":"peerreview_statement","label":"Peer Review Statement"},{"value":"http:\/\/www.tandfonline.com\/action\/journalInformation?show=aimsScope&journalCode=iepi20","URL":"http:\/\/www.tandfonline.com\/action\/journalInformation?show=aimsScope&journalCode=iepi20","order":2,"name":"aims_and_scope_url","label":"Aim & Scope"},{"value":"2021-12-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}