{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T23:07:34Z","timestamp":1791587254119,"version":"4.3.4"},"reference-count":70,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T00:00:00Z","timestamp":1638403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T00:00:00Z","timestamp":1638403200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100014607","name":"Royal Children's Hospital Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014607","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2022,8]]},"DOI":"10.1002\/humu.24302","type":"journal-article","created":{"date-parts":[[2021,11,27]],"date-time":"2021-11-27T10:24:39Z","timestamp":1638008679000},"page":"1097-1113","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Recommendations by the ClinGen Rett\/Angelman\u2010like expert panel for gene\u2010specific variant interpretation methods"],"prefix":"10.1155","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7462-6300","authenticated-orcid":false,"given":"Dianalee","family":"McKnight","sequence":"first","affiliation":[{"name":"Invitae  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lora","family":"Bean","sequence":"additional","affiliation":[{"name":"Perkin Elmer  Duluth Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izabela","family":"Karbassi","sequence":"additional","affiliation":[{"name":"Athena Diagnostics  Worcester Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katelynn","family":"Beattie","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5953-2728","authenticated-orcid":false,"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[{"name":"Institut de Psychiatrie et de Neurosciences de Paris (IPNP)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hope","family":"Bonin","sequence":"additional","affiliation":[{"name":"Central Manchester University Hospital  Manchester Greater Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Fang","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8431-0641","authenticated-orcid":false,"given":"John","family":"Chrisodoulou","sequence":"additional","affiliation":[{"name":"Murdoch Childrens Research Institute and the University of Melbourne  Parkville Victoria Australia"},{"name":"University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Friez","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Helgeson","sequence":"additional","affiliation":[{"name":"Invitae  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Krishnaraj","sequence":"additional","affiliation":[{"name":"University of Sydney  Sydney New South Wales Australia"},{"name":"Children's Hospital at Westmead  Westmead New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7474-9178","authenticated-orcid":false,"given":"Linyan","family":"Meng","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey","family":"Mighion","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Neul","sequence":"additional","affiliation":[{"name":"Vanderbilt Kennedy Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Percy","sequence":"additional","affiliation":[{"name":"University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Ramsden","sequence":"additional","affiliation":[{"name":"Central Manchester University Hospital  Manchester Greater Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda","family":"Zoghbi","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soma","family":"Das","sequence":"additional","affiliation":[{"name":"University of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1139\/O10-112"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/515582"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.015"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1377"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.42"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0690-2"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25797"},{"key":"e_1_2_9_10_1","volume-title":"GeneReviews\u00ae","author":"Dagli A. I.","year":"1998"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.133"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s007870170034"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.1.129"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.156"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0707456104"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.06.003"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.3"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.01.013"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/85899"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1090674"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000200"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22101"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-019-0046-x"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci10020107"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80596-6"},{"key":"e_1_2_9_27_1","volume-title":"GeneReviews\u00ae","author":"Kaur S.","year":"2001"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.218"},{"issue":"1","key":"e_1_2_9_29_1","first-page":"118","article-title":"Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett syndrome","volume":"127","author":"Khajuria R.","year":"2010","journal-title":"Human Genetics"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610507.x"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23263"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.07.003"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23650"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14074"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2019000644"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3434"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-68"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103964"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0096-4"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37765"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23636"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.75"},{"key":"e_1_2_9_43_1","volume-title":"GeneReviews\u00ae","author":"Morrow E. M.","year":"2018"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01194.x"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23630"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.04.003"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.09.056"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053504"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38831"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22687"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20571"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12769"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep38590"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1675-5"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14618"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr250"},{"key":"e_1_2_9_59_1","volume-title":"GeneReviews\u00ae","author":"Sweetser D. A.","year":"2012"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.367"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.210"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(89)90295-6"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000281"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1216988110"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21639"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1058-x"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.08.009"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-24"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.16.6.2898"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13506"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.060129"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24302","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24302","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24302","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:56:12Z","timestamp":1672332972000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,2]]},"references-count":70,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/humu.24302"],"URL":"https:\/\/doi.org\/10.1002\/humu.24302","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,2]]},"assertion":[{"value":"2021-07-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}