{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:04:12Z","timestamp":1787504652423,"version":"build-2736575974"},"reference-count":86,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T00:00:00Z","timestamp":1718755200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009992","name":"Seattle Children's Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009992","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults. Variants were filtered by gnomAD allele frequencies and predictions of functional consequences. Variants of interest were identified in 88 genes, in 64.6% of our cohort. Seventy\u2010three of these have been previously associated with SIDS\/SUID\/SUDP. Forty\u2010three can be characterized as cardiac genes and are related to cardiomyopathies, arrhythmias, and other conditions. Variants in 22 genes were associated with neurologic functions. Variants were also found in 13 genes reported to be pathogenic for various systemic disorders and in two genes associated with immunological function. Variants in eight genes are implicated in the response to hypoxia and the regulation of reactive oxygen species (ROS) and have not been previously described in SIDS\/SUID\/SUDP. Seventy\u2010two infants met the triple risk hypothesis criteria. Our study confirms and further expands the list of genetic variants associated with SUID. The abundance of genes associated with heart disease and the discovery of variants associated with the redox metabolism have important mechanistic implications for the pathophysiology of SUID.<\/jats:p>","DOI":"10.1002\/ajmg.a.63596","type":"journal-article","created":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T05:59:46Z","timestamp":1718776786000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5688-0703","authenticated-orcid":false,"given":"Angela M.","family":"Bard","sequence":"first","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay V.","family":"Clark","sequence":"additional","affiliation":[{"name":"Bioinformatics and Research Scientific Computing Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdal","family":"Cosgun","sequence":"additional","affiliation":[{"name":"Bioinformatics and Research Scientific Computing Seattle Children's Research Institute  Seattle Washington USA"},{"name":"AI for Good Research Lab Microsoft  Redmond Washington USA"},{"name":"Microsoft Genomics Team  Redmond Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly A.","family":"Aldinger","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"},{"name":"Department of Pediatrics University of Washington School of Medicine  Seattle Washington USA"},{"name":"Department of Neurology University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Timms","sequence":"additional","affiliation":[{"name":"Bioinformatics and Research Scientific Computing Seattle Children's Research Institute  Seattle Washington USA"},{"name":"Center for Developmental Biology and Regenerative Medicine Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lely A.","family":"Quina","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan M. Lavista","family":"Ferres","sequence":"additional","affiliation":[{"name":"Bioinformatics and Research Scientific Computing Seattle Children's Research Institute  Seattle Washington USA"},{"name":"AI for Good Research Lab Microsoft  Redmond Washington USA"},{"name":"Microsoft Genomics Team  Redmond Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Jardine","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth A.","family":"Haas","sequence":"additional","affiliation":[{"name":"Department of Research Rady Children's Hospital\u2010San Diego  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana M.","family":"Becker","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chelsea M.","family":"Pagan","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avni","family":"Santani","sequence":"additional","affiliation":[{"name":"Let's Get Checked  Monrovia California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinez","sequence":"additional","affiliation":[{"name":"Let's Get Checked  Monrovia California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumitra","family":"Barua","sequence":"additional","affiliation":[{"name":"Let's Get Checked  Monrovia California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zakkary","family":"McNutt","sequence":"additional","affiliation":[{"name":"Let's Get Checked  Monrovia California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Addie","family":"Nesbitt","sequence":"additional","affiliation":[{"name":"Let's Get Checked  Monrovia California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin A.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Auckland  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan\u2010Marino","family":"Ramirez","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"},{"name":"Department of Pediatrics University of Washington School of Medicine  Seattle Washington USA"},{"name":"Department of Neurological Surgery University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.15308"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10495-018-1509-0"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1808314115"},{"key":"e_1_2_10_5_1","unstructured":"American SIDS Institute. (2023).Definitions. \u201cSIDS.\u201d American SIDS Institute.https:\/\/www.sids.org\/what-is-sidssuid\/definitions\/"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2018-3325"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2017.129"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00335.2010"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0166-4328(01)00297-2"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mehy.2019.109520"},{"key":"e_1_2_10_11_1","unstructured":"Centers for Disease Control and Prevention. (2023).Sudden Unexpected Infant Death and Sudden Infant Death Syndrome.https:\/\/www.cdc.gov\/sids\/data.htm"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.119.012264"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.121.021170"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11010-014-2194-0"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2012.00035"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.003032"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2019.103255"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41418-021-00757-4"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.6.e628"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.5222\/MMJ.2020.67366"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1089"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22179235"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.16988"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2013.05.032"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2016.00004"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2017.12.003"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12024-019-00156-9"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2016-312327"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0131-4"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.110.5.e64"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0896-6273(04)00019-4"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2115140118"},{"key":"e_1_2_10_34_1","volume-title":"GeneReviews\u00ae","author":"Hammer M. F.","year":"2016"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2004.03.035"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2020.109826"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlad030"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI146926"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.118.200925"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2013.06.026"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S239478"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlz062"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.12.004"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-1637"},{"key":"e_1_2_10_48_1","unstructured":"Let's Get Checked. (2023).Unpublished internal company document. Monrovia CA."},{"key":"e_1_2_10_49_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_10_50_1","volume-title":"GeneReviews\u00ae","author":"Loeys B. L.","year":"2008"},{"key":"e_1_2_10_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)30021-7"},{"key":"e_1_2_10_52_1","doi-asserted-by":"publisher","DOI":"10.21105\/joss.00861"},{"key":"e_1_2_10_53_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1991.tb00409.x"},{"key":"e_1_2_10_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.1950230865"},{"key":"e_1_2_10_55_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12818"},{"key":"e_1_2_10_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2020.01.006"},{"key":"e_1_2_10_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacep.2020.06.001"},{"key":"e_1_2_10_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.24753"},{"issue":"4","key":"e_1_2_10_59_1","first-page":"153","article-title":"Cystic fibrosis\u2010related diabetes: from CFTR dysfunction to oxidative stress","volume":"30","author":"Ntimbane T.","year":"2009","journal-title":"The Clinical Biochemist. Reviews"},{"key":"e_1_2_10_60_1","doi-asserted-by":"publisher","DOI":"10.20851\/sids-230"},{"key":"e_1_2_10_61_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0683"},{"key":"e_1_2_10_62_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12024-010-9182-9"},{"key":"e_1_2_10_63_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003246-197909000-00013"},{"key":"e_1_2_10_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/iub.2375"},{"key":"e_1_2_10_65_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-021-00227-3"},{"key":"e_1_2_10_66_1","doi-asserted-by":"publisher","DOI":"10.3389\/fchem.2019.00710"},{"key":"e_1_2_10_67_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpme.1993.21.2.153"},{"key":"e_1_2_10_68_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.17.2199"},{"key":"e_1_2_10_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2016.08.054"},{"key":"e_1_2_10_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1309"},{"key":"e_1_2_10_71_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.87.3.306"},{"key":"e_1_2_10_72_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1993.tb12886.x"},{"key":"e_1_2_10_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2007.06.001"},{"key":"e_1_2_10_74_1","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/9319832"},{"key":"e_1_2_10_75_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.23145"},{"key":"e_1_2_10_76_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm069"},{"key":"e_1_2_10_77_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199312000-00013"},{"key":"e_1_2_10_78_1","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12371"},{"key":"e_1_2_10_79_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1131"},{"key":"e_1_2_10_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.08.011"},{"key":"e_1_2_10_81_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2018.01.030"},{"issue":"6","key":"e_1_2_10_82_1","first-page":"e20","article-title":"Perinatal and childhood morbidity and mortality in congenital analbuminemia","volume":"17","author":"Toye J. M.","year":"2012","journal-title":"Paediatrics & Child Health"},{"key":"e_1_2_10_83_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-3-3-281"},{"key":"e_1_2_10_84_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.636668"},{"key":"e_1_2_10_85_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_10_86_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.redox.2018.06.012"},{"key":"e_1_2_10_87_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1305961110"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T04:41:34Z","timestamp":1733114494000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,19]]},"references-count":86,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/ajmg.a.63596"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63596","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2023.09.11.23295207","asserted-by":"object"}]},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,19]]},"assertion":[{"value":"2023-11-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63596"}}