{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:20:25Z","timestamp":1790468425470,"version":"4.1.0"},"reference-count":65,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T00:00:00Z","timestamp":1595376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T00:00:00Z","timestamp":1595376000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000001","name":"National Science Foundation","doi-asserted-by":"publisher","award":["DGE 1256260"],"award-info":[{"award-number":["DGE 1256260"]}],"id":[{"id":"10.13039\/100000001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01GM070862"],"award-info":[{"award-number":["R01GM070862"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01NS114636"],"award-info":[{"award-number":["R01NS114636"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R35GM131744"],"award-info":[{"award-number":["R35GM131744"]}],"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":[[2020,10]]},"DOI":"10.1002\/humu.24079","type":"journal-article","created":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T21:32:04Z","timestamp":1594503124000},"page":"1761-1774","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (\n            <i>KIF1A<\/i>\n            )"],"prefix":"10.1155","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0689-2965","authenticated-orcid":false,"given":"Simranpreet","family":"Kaur","sequence":"first","affiliation":[{"name":"Brain and Mitochondrial Research Group, Murdoch Children's Research Institute Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6768-3665","authenticated-orcid":false,"given":"Nicole J.","family":"Van Bergen","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group, Murdoch Children's Research Institute Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9329-4981","authenticated-orcid":false,"given":"Kristen J.","family":"Verhey","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology University of Michigan Medical School  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8662-9840","authenticated-orcid":false,"given":"Cameron J.","family":"Nowell","sequence":"additional","affiliation":[{"name":"Drug Discover Biology, Monash Institute of Pharmaceutical Sciences Monash University  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1212-3705","authenticated-orcid":false,"given":"Breane","family":"Budaitis","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Biology Program University of Michigan Medical School  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8302-9778","authenticated-orcid":false,"given":"Yang","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology University of Michigan Medical School  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5752-5698","authenticated-orcid":false,"given":"Carolyn","family":"Ellaway","sequence":"additional","affiliation":[{"name":"Discipline of Genomic Medicine, School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Sydney New South Wales Australia"},{"name":"Western Sydney Genetics Program Children's Hospital at Westmead  Westmead New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6895-8819","authenticated-orcid":false,"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine University of Naples \u201cFederico II\u201d  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-2342","authenticated-orcid":false,"given":"Gerarda","family":"Cappuccio","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine University of Naples \u201cFederico II\u201d  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2437-6198","authenticated-orcid":false,"given":"Irene","family":"Bruno","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8082-7125","authenticated-orcid":false,"given":"Lia","family":"Boyle","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Columbia University Irving Medical Center  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2479-6018","authenticated-orcid":false,"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1502-5000","authenticated-orcid":false,"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[{"name":"New South Wales Health Pathology  Randwick New South Wales Australia"},{"name":"Neuroscience Research Australia University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9519-5714","authenticated-orcid":false,"given":"Mark J.","family":"Cowley","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research  Sydney New South Wales Australia"},{"name":"St Vincent's Clinical School UNSW Sydney  Sydney New South Wales Australia"},{"name":"Children's Cancer Institute, Lowy Cancer Research Centre UNSW  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0759-9306","authenticated-orcid":false,"given":"Sean","family":"Massey","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group, Murdoch Children's Research Institute Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2541-3496","authenticated-orcid":false,"given":"Rhea","family":"Sonawane","sequence":"additional","affiliation":[{"name":"Faculty of Science, Engineering and Built Environment Deakin University  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew D.","family":"Burton","sequence":"additional","affiliation":[{"name":"Flow Cytometry and Imaging Facility, Murdoch Children's Research Institute Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0088-0792","authenticated-orcid":false,"given":"Bitten","family":"Schonewolf\u2010Greulich","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Kennedy Center Copenhagen University Hospital, Rigshospitalet  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4777-5802","authenticated-orcid":false,"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Kennedy Center Copenhagen University Hospital, Rigshospitalet  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Departments of Paediatrics and Medicine Columbia University Medical Center  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1808-0646","authenticated-orcid":false,"given":"Wendy A.","family":"Gold","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Research Laboratory, Kids Research Children's Hospital at Westmead, and The Children's Medical Research Institute  Westmead New South Wales Australia"},{"name":"Kids Neuroscience Centre, Kids Research Children's Hospital at Westmead  Westmead New South Wales Australia"},{"name":"School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health The University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8431-0641","authenticated-orcid":false,"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group, Murdoch Children's Research Institute Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"},{"name":"Discipline of Genomic Medicine, School of Medical Sciences, Faculty of Medicine and Health University of Sydney  Sydney New South Wales Australia"},{"name":"Victorian Clinical Genetics Services Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.03680"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20174075"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000345664.72220.6a"},{"key":"e_1_2_8_6_1","unstructured":"Boyle L. &Chung W.(2017).Expanding the natural history of KIF1A associated neurological disorders (KAND). Poster presented at 67th Annual Meeting of The American Society of Human Genetics Orlando FL."},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-12999-9"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20153621"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2012.11.033"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.117143.110"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.198"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2019.00419"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2202-11-53"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-014-1202-x"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.185.4154.862"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.001"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000072"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0700-z"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2774"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816639718"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2011.01325.x"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41583-018-0006-3"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105775"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2015.00044"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601299"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/35078000"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.261"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00708-0"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.12.020"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13279"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.103911"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.217"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22709"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1205271109"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2013.03.024"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2011.01.018"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.75"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/1866-1955-6-20"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.108"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.80"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl022"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcjo.2017.02.021"},{"issue":"37","key":"e_1_2_8_48_1","first-page":"723","article-title":"On a unusual brain atrophy syndrome in hyperammonemia in childhood","volume":"116","author":"Rett A.","year":"1966","journal-title":"Wiener Medizinische Wochenschrift"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.013"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.19374"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13153"},{"key":"e_1_2_8_53_1","first-page":"619","article-title":"Azahar: A PyMOL plugin for construction, visualization and analysis of glycan molecules","volume":"30","author":"Schr\u00f6dinger","year":"2010","journal-title":"The PyMOL Molecular Graphics System"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1400759111"},{"key":"e_1_2_8_56_1","first-page":"23","volume-title":"Methods in cell biology","author":"Stanhope K.","year":"2015"},{"key":"e_1_2_8_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.06.071"},{"key":"e_1_2_8_58_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1073386"},{"key":"e_1_2_8_59_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-11-548"},{"key":"e_1_2_8_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2019.04.006"},{"key":"e_1_2_8_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.968"},{"key":"e_1_2_8_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.mcb.2015.06.021"},{"key":"e_1_2_8_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25032"},{"key":"e_1_2_8_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ensci.2018.11.026"},{"key":"e_1_2_8_65_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201708179"},{"key":"e_1_2_8_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.09.037"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.24079","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24079","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24079","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/am-pdf\/10.1002\/humu.24079","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:08Z","timestamp":1672332848000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,22]]},"references-count":65,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1002\/humu.24079"],"URL":"https:\/\/doi.org\/10.1002\/humu.24079","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,22]]},"assertion":[{"value":"2019-11-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}