{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,14]],"date-time":"2026-11-14T21:00:47Z","timestamp":1794690047543,"version":"4.9.1"},"reference-count":70,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000971","name":"EC | Horizon 2020 Framework Programme","doi-asserted-by":"publisher","award":["19-SI-459"],"award-info":[{"award-number":["19-SI-459"]}],"id":[{"id":"10.13039\/100000971","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003246","name":"Amyotrophic Lateral Sclerosis Association","doi-asserted-by":"publisher","award":["ZonMW-VIDI 91719350"],"award-info":[{"award-number":["ZonMW-VIDI 91719350"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["ZonMW-VIDI 91719350"],"award-info":[{"award-number":["ZonMW-VIDI 91719350"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Amyotrophic lateral sclerosis (ALS) is a heritable disorder where rare variants with low-to-moderate penetrance are thought to dominate genetic risk. To identify such rare variants, we harmonized and analyzed exome data from 22 cohorts, totaling 17,919 individuals with ALS and 200,703 controls across discovery and replication phases. Rare variant analyses identified several new risk genes, with replication confirming association of\n                    <jats:italic>YKT6<\/jats:italic>\n                    and supporting\n                    <jats:italic>HTR3C<\/jats:italic>\n                    ,\n                    <jats:italic>GBGT1<\/jats:italic>\n                    and\n                    <jats:italic>KNTC1<\/jats:italic>\n                    . We also provide strong, independent validation for genes with limited previous evidence:\n                    <jats:italic>ARPP21<\/jats:italic>\n                    ,\n                    <jats:italic>DNAJC7<\/jats:italic>\n                    and\n                    <jats:italic>CFAP410<\/jats:italic>\n                    . Notably, in\n                    <jats:italic>ARPP21<\/jats:italic>\n                    , we identified a new high-effect variant (p.P747L) and confirmed that p.P563L is an ALS-associated variant leading to an aggressive disease course. Beyond new discoveries, our analyses largely recapitulated the known genetic architecture of ALS, identifying risk variants in over 20% of cases and supporting a cumulative oligogenic risk model. These findings highlight new translational targets and show that rare variant analyses capture substantially more genetic risk than common variant genome-wide association studies.\n                  <\/jats:p>","DOI":"10.1038\/s41588-026-02535-9","type":"journal-article","created":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T09:02:53Z","timestamp":1774947773000},"page":"717-725","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis"],"prefix":"10.1038","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9007-7436","authenticated-orcid":false,"given":"Paul J.","family":"Hop","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9023-5617","authenticated-orcid":false,"given":"Maarten","family":"Kooyman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7591-2221","authenticated-orcid":false,"given":"Brendan J.","family":"Kenna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramona A. J.","family":"Zwamborn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristel R.","family":"van Eijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-2503-0038","authenticated-orcid":false,"given":"Charlotte H.","family":"van Dijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin","family":"Bekema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5860-1533","authenticated-orcid":false,"given":"Wouter","family":"van Rheenen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0478-0836","authenticated-orcid":false,"given":"Paul","family":"Beele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4161-4004","authenticated-orcid":false,"given":"Joke J. F. A.","family":"van Vugt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Project MinE ALS sequencing Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Van Damme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard H.","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamede","family":"de Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"NYGC ALS Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"FALS sequencing Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley N.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"GTAC Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7406-9831","authenticated-orcid":false,"given":"Ahmad Al","family":"Khleifat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5280-5017","authenticated-orcid":false,"given":"Alfredo","family":"Iacoangeli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0873-8689","authenticated-orcid":false,"given":"Johnathan","family":"Cooper-Knock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6980-2453","authenticated-orcid":false,"given":"Bradley N.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5200-3284","authenticated-orcid":false,"given":"Simon","family":"Topp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke J.","family":"van der Kooi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5490-2390","authenticated-orcid":false,"given":"Vera","family":"Fominykh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian","family":"Drory","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yossef","family":"Lerner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1961-7695","authenticated-orcid":false,"given":"Yehuda","family":"Shovman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic B.","family":"Rowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6319-9473","authenticated-orcid":false,"given":"Kelly L.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3915-2135","authenticated-orcid":false,"given":"Russell L.","family":"McLaughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Hurt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2120-3328","authenticated-orcid":false,"given":"Yunfeng","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9548-5597","authenticated-orcid":false,"given":"Chia-Yen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5625-1189","authenticated-orcid":false,"given":"Ellen","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2133-7345","authenticated-orcid":false,"given":"Heiko","family":"Runz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3542-3770","authenticated-orcid":false,"given":"Eleonora","family":"Aronica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2330-9444","authenticated-orcid":false,"given":"Ewout J. N.","family":"Groen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7709-5883","authenticated-orcid":false,"given":"Michael A.","family":"van Es","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1631-6440","authenticated-orcid":false,"given":"R. Jeroen","family":"Pasterkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sali M. K.","family":"Farhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fleur C.","family":"Garton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan F.","family":"McRae","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela A.","family":"McCombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert D.","family":"Henderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongsheng","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8013-728X","authenticated-orcid":false,"given":"Lenka","family":"\u0160lachtov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5445-0520","authenticated-orcid":false,"given":"Helle","family":"H\u00f8yer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes L.","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6150-1608","authenticated-orcid":false,"given":"Ruben J.","family":"Cauchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lev","family":"Brylev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3898-1943","authenticated-orcid":false,"given":"Boris","family":"Rogelj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5083-8261","authenticated-orcid":false,"given":"Bla\u017e","family":"Koritnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janez","family":"Zidar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Salas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesus S.","family":"Mora Pardina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2541-6232","authenticated-orcid":false,"given":"Marc","family":"Gotkine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Povedano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Corcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Vourc\u2019h","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Couratier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5538-9274","authenticated-orcid":false,"given":"Markus","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew C.","family":"Kiernan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Pamphlett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian P.","family":"Blair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7556-0158","authenticated-orcid":false,"given":"Mamede","family":"de Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6977-2517","authenticated-orcid":false,"given":"Nazli A.","family":"Ba\u015fak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Ingre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0094-5429","authenticated-orcid":false,"given":"Peter M.","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorne","family":"Zinman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2852-0329","authenticated-orcid":false,"given":"Ekaterina","family":"Rogaeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3875-2972","authenticated-orcid":false,"given":"Ian R.","family":"MacKenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Dupre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8403-1418","authenticated-orcid":false,"given":"Guy A.","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan J.","family":"Traynor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5963-7426","authenticated-orcid":false,"given":"Nicola","family":"Ticozzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Chi\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7698-3854","authenticated-orcid":false,"given":"Vincenzo","family":"Silani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orla","family":"Hardiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemali","family":"Phatnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3395-1633","authenticated-orcid":false,"given":"Matthew B.","family":"Harms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2025-8239","authenticated-orcid":false,"given":"Clifton L.","family":"Dalgard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3295-4971","authenticated-orcid":false,"given":"Jonathan D.","family":"Glass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8084-5043","authenticated-orcid":false,"given":"John E.","family":"Landers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4010-2357","authenticated-orcid":false,"given":"Philip","family":"Van Damme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0216-5717","authenticated-orcid":false,"given":"Karen E.","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8925-2567","authenticated-orcid":false,"given":"Pamela J.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris E.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4924-7712","authenticated-orcid":false,"given":"Ammar","family":"Al-Chalabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6559-3965","authenticated-orcid":false,"given":"Leonard H.","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2712-7218","authenticated-orcid":false,"given":"Kevin P.","family":"Kenna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5572-9657","authenticated-orcid":false,"given":"Jan H.","family":"Veldink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,31]]},"reference":[{"key":"2535_CR1","doi-asserted-by":"crossref","first-page":"17071","DOI":"10.1038\/nrdp.2017.71","volume":"3","author":"O Hardiman","year":"2017","unstructured":"Hardiman, O. et al. Amyotrophic lateral sclerosis. Nat. Rev. Dis. Primer 3, 17071 (2017).","journal-title":"Nat. Rev. Dis. Primer"},{"key":"2535_CR2","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1016\/S0140-6736(17)31287-4","volume":"390","author":"MA van Es","year":"2017","unstructured":"van Es, M. A. et al. Amyotrophic lateral sclerosis. Lancet 390, 2084\u20132098 (2017).","journal-title":"Lancet"},{"key":"2535_CR3","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1001\/jamaneurol.2019.2044","volume":"76","author":"M Ryan","year":"2019","unstructured":"Ryan, M., Heverin, M., McLaughlin, R. L. & Hardiman, O. Lifetime risk and heritability of amyotrophic lateral sclerosis. JAMA Neurol. 76, 1367\u20131374 (2019).","journal-title":"JAMA Neurol."},{"key":"2535_CR4","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1038\/ng.3622","volume":"48","author":"W Van Rheenen","year":"2016","unstructured":"Van Rheenen, W. et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat. Genet. 48, 1043\u20131048 (2016).","journal-title":"Nat. Genet."},{"key":"2535_CR5","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1126\/science.aaa3650","volume":"347","author":"ET Cirulli","year":"2015","unstructured":"Cirulli, E. T. et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347, 1436\u20131441 (2015).","journal-title":"Science"},{"key":"2535_CR6","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/nn.4000","volume":"18","author":"A Freischmidt","year":"2015","unstructured":"Freischmidt, A. et al. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat. Neurosci. 18, 631\u2013636 (2015).","journal-title":"Nat. Neurosci."},{"key":"2535_CR7","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1038\/ng.3626","volume":"48","author":"KP Kenna","year":"2016","unstructured":"Kenna, K. P. et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat. Genet. 48, 1037\u20131042 (2016).","journal-title":"Nat. Genet."},{"key":"2535_CR8","doi-asserted-by":"crossref","DOI":"10.1093\/brain\/aww033","volume":"139","author":"D Brenner","year":"2016","unstructured":"Brenner, D. et al. NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139, e28 (2016).","journal-title":"Brain"},{"key":"2535_CR9","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1016\/j.neuron.2018.02.027","volume":"97","author":"A Nicolas","year":"2018","unstructured":"Nicolas, A. et al. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron 97, 1268\u20131283 (2018).","journal-title":"Neuron"},{"key":"2535_CR10","unstructured":"Van der Auwera, G. D. & O\u2019Connor, B. D. Genomics in the Cloud: Using Docker, GATK, and WDL in Terra (O\u2019Reilly Media, Inc., 2020)."},{"key":"2535_CR11","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-018-06159-4","volume":"9","author":"AA Regier","year":"2018","unstructured":"Regier, A. A. et al. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat. Commun. 9, 4038 (2018).","journal-title":"Nat. Commun."},{"key":"2535_CR12","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1093\/biomet\/80.1.27","volume":"80","author":"D Firth","year":"1993","unstructured":"Firth, D. Bias reduction of maximum likelihood estimates. Biometrika 80, 27\u201338 (1993).","journal-title":"Biometrika"},{"key":"2535_CR13","unstructured":"Hop, P. J. & Kenna, K. P. RVAT: Rare Variant Association Toolkit. GitHub https:\/\/github.com\/kennalab\/rvat (2026)."},{"key":"2535_CR14","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1080\/21678421.2023.2173015","volume":"24","author":"AA Dilliott","year":"2023","unstructured":"Dilliott, A. A. et al. Clinical testing panels for ALS: global distribution, consistency, and challenges. Amyotroph. Lateral Scler. Front. Degener. 24, 420\u2013435 (2023).","journal-title":"Amyotroph. Lateral Scler. Front. Degener."},{"key":"2535_CR15","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.ajhg.2019.01.002","volume":"104","author":"Y Liu","year":"2019","unstructured":"Liu, Y. et al. ACAT: a fast and powerful p value combination method for rare-variant analysis in sequencing studies. Am. J. Hum. Genet. 104, 410\u2013421 (2019).","journal-title":"Am. J. Hum. Genet."},{"key":"2535_CR16","doi-asserted-by":"crossref","first-page":"841394","DOI":"10.3389\/fneur.2022.841394","volume":"13","author":"E Scarian","year":"2022","unstructured":"Scarian, E. et al. The role of VCP mutations in the spectrum of amyotrophic lateral sclerosis\u2014frontotemporal dementia. Front. Neurol. 13, 841394 (2022).","journal-title":"Front. Neurol."},{"key":"2535_CR17","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1093\/bioinformatics\/btr260","volume":"27","author":"A Liberzon","year":"2011","unstructured":"Liberzon, A. et al. Molecular signatures database (MSigDB) 3.0. Bioinformatics 27, 1739\u20131740 (2011).","journal-title":"Bioinformatics"},{"key":"2535_CR18","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1016\/j.celrep.2019.02.006","volume":"26","author":"J Cooper-Knock","year":"2019","unstructured":"Cooper-Knock, J. et al. Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Rep. 26, 2298\u20132306 (2019).","journal-title":"Cell Rep."},{"key":"2535_CR19","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1136\/jnnp-2024-333834","volume":"96","author":"O Dols-Icardo","year":"2025","unstructured":"Dols-Icardo, O. et al. Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 96, 132\u2013139 (2025).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"2535_CR20","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.1038\/s41588-021-00973-1","volume":"53","author":"W van Rheenen","year":"2021","unstructured":"van Rheenen, W. et al. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat. Genet. 53, 1636\u20131648 (2021).","journal-title":"Nat. Genet."},{"key":"2535_CR21","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1038\/s41593-019-0530-0","volume":"22","author":"SMK Farhan","year":"2019","unstructured":"Farhan, S. M. K. et al. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat. Neurosci. 22, 1966\u20131974 (2019).","journal-title":"Nat. Neurosci."},{"key":"2535_CR22","doi-asserted-by":"crossref","first-page":"3776","DOI":"10.1093\/hmg\/dds199","volume":"21","author":"M Van Blitterswijk","year":"2012","unstructured":"Van Blitterswijk, M. et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 3776\u20133784 (2012).","journal-title":"Hum. Mol. Genet."},{"key":"2535_CR23","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1136\/jnnp-2024-335364","volume":"96","author":"A Iacoangeli","year":"2025","unstructured":"Iacoangeli, A. et al. Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications. J. Neurol. Neurosurg. Psychiatry 96, 928\u2013936 (2025).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"2535_CR24","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1080\/15384101.2019.1580488","volume":"18","author":"F Kriegenburg","year":"2019","unstructured":"Kriegenburg, F., Bas, L., Gao, J., Ungermann, C. & Kraft, C. The multi-functional SNARE protein Ykt6 in autophagosomal fusion processes. Cell Cycle 18, 639\u2013651 (2019).","journal-title":"Cell Cycle"},{"key":"2535_CR25","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2016730118","volume":"118","author":"K McGrath","year":"2021","unstructured":"McGrath, K. et al. A conformational switch driven by phosphorylation regulates the activity of the evolutionarily conserved SNARE Ykt6. Proc. Natl Acad. Sci. USA 118, e2016730118 (2021).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"2535_CR26","doi-asserted-by":"crossref","first-page":"101125","DOI":"10.1016\/j.gim.2024.101125","volume":"26","author":"M Ma","year":"2024","unstructured":"Ma, M. et al. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet. Med. 26, 101125 (2024).","journal-title":"Genet. Med."},{"key":"2535_CR27","unstructured":"Zein-Sabatto, H., Collawn, J., Chang, C. & Miller, M. A. An RNAi screen in C. elegans for genes that play a role in secretion and cleavage of VAPB MSP domain. Preprint at bioRxiv http:\/\/biorxiv.org\/lookup\/doi\/10.1101\/2021.01.02.425092 (2021)."},{"key":"2535_CR28","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-024-53097-5","volume":"15","author":"K Kamemura","year":"2024","unstructured":"Kamemura, K. et al. Secretion of endoplasmic reticulum protein VAPB\/ALS8 requires topological inversion. Nat. Commun. 15, 8777 (2024).","journal-title":"Nat. Commun."},{"key":"2535_CR29","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-021-02900-0","volume":"11","author":"A Arnoux","year":"2021","unstructured":"Arnoux, A. et al. Evaluation of a 5-HT2B receptor agonist in a murine model of amyotrophic lateral sclerosis. Sci Rep. 11, 23582 (2021).","journal-title":"Sci Rep."},{"key":"2535_CR30","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/ana.25030","volume":"82","author":"H El Oussini","year":"2017","unstructured":"El Oussini, H. et al. Degeneration of serotonin neurons triggers spasticity in amyotrophic lateral sclerosis. Ann. Neurol. 82, 444\u2013456 (2017).","journal-title":"Ann. Neurol."},{"key":"2535_CR31","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.semcdb.2020.08.012","volume":"112","author":"TJ Tracey","year":"2021","unstructured":"Tracey, T. J., Kirk, S. E., Steyn, F. J. & Ngo, S. T. The role of lipids in the central nervous system and their pathological implications in amyotrophic lateral sclerosis. Semin. Cell Dev. Biol. 112, 69\u201381 (2021).","journal-title":"Semin. Cell Dev. Biol."},{"key":"2535_CR32","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1038\/s41591-021-01346-1","volume":"27","author":"P Mohassel","year":"2021","unstructured":"Mohassel, P. et al. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat. Med. 27, 1197\u20131204 (2021).","journal-title":"Nat. Med."},{"key":"2535_CR33","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-018-03681-3","volume":"9","author":"F Rehfeld","year":"2018","unstructured":"Rehfeld, F. et al. The RNA-binding protein ARPP21 controls dendritic branching by functionally opposing the miRNA it hosts. Nat. Commun. 9, 1235 (2018).","journal-title":"Nat. Commun."},{"key":"2535_CR34","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1093\/brain\/awae331","volume":"148","author":"M De Decker","year":"2025","unstructured":"De Decker, M. et al. C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis. Brain 148, 803\u2013816 (2025).","journal-title":"Brain"},{"key":"2535_CR35","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1136\/jnnp-2022-330504","volume":"94","author":"SW Willemse","year":"2023","unstructured":"Willemse, S. W. et al. UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target. J. Neurol. Neurosurg. Psychiatry 94, 649\u2013656 (2023).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"2535_CR36","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.conb.2018.12.011","volume":"57","author":"JS Dittman","year":"2019","unstructured":"Dittman, J. S. Unc13: a multifunctional synaptic marvel. Curr. Opin. Neurobiol. 57, 17\u201325 (2019).","journal-title":"Curr. Opin. Neurobiol."},{"key":"2535_CR37","doi-asserted-by":"crossref","first-page":"3728","DOI":"10.1002\/ajmg.a.62443","volume":"185","author":"S Kalantari","year":"2021","unstructured":"Kalantari, S. et al. Expanding the KIF4A-associated phenotype. Am. J. Med. Genet. A. 185, 3728\u20133739 (2021).","journal-title":"Am. J. Med. Genet. A."},{"key":"2535_CR38","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1038\/nrm2774","volume":"10","author":"N Hirokawa","year":"2009","unstructured":"Hirokawa, N., Noda, Y., Tanaka, Y. & Niwa, S. Kinesin superfamily motor proteins and intracellular transport. Nat. Rev. Mol. Cell Biol. 10, 682\u2013696 (2009).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2535_CR39","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms2303","volume":"3","author":"T Yamashita","year":"2012","unstructured":"Yamashita, T. et al. A role for calpain-dependent cleavage of TDP-43 in amyotrophic lateral sclerosis pathology. Nat. Commun. 3, 1307 (2012).","journal-title":"Nat. Commun."},{"key":"2535_CR40","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1111\/jnc.13536","volume":"137","author":"MV Rao","year":"2016","unstructured":"Rao, M. V., Campbell, J., Palaniappan, A., Kumar, A. & Nixon, R. A. Calpastatin inhibits motor neuron death and increases survival of hSOD1G93A mice. J. Neurochem. 137, 253\u2013265 (2016).","journal-title":"J. Neurochem."},{"key":"2535_CR41","unstructured":"Cohen, J. et al. Next steps in development for AMX0114: an antisense oligonucleotide targeting calpain-2, a critical effector of axonal Degeneration. In MDA Clinical & Scientific Conference (Amylyx Pharmaceuticals, Inc., 2024); https:\/\/www.amylyx.com\/document\/next-steps-in-development-for-amx0114-an-antisense-oligonucleotide-targeting-calpain-2-a-critical-effector-of-axonal-degeneration.pdf"},{"key":"2535_CR42","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/s41591-021-01615-z","volume":"28","author":"VA Korobeynikov","year":"2022","unstructured":"Korobeynikov, V. A., Lyashchenko, A. K., Blanco-Redondo, B., Jafar-Nejad, P. & Shneider, N. A. Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis. Nat. Med. 28, 104\u2013116 (2022).","journal-title":"Nat. Med."},{"key":"2535_CR43","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1016\/S1474-4422(24)00216-3","volume":"23","author":"LH van den Berg","year":"2024","unstructured":"van den Berg, L. H. et al. Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study. Lancet Neurol. 23, 901\u2013912 (2024).","journal-title":"Lancet Neurol."},{"key":"2535_CR44","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pmed.1001779","volume":"12","author":"C Sudlow","year":"2015","unstructured":"Sudlow, C. et al. UK Biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 12, e1001779 (2015).","journal-title":"PLoS Med."},{"key":"2535_CR45","unstructured":"The All of Us Research Program Genomics Investigators. Genomic data in the All of Us Research Program. Nature 627, 340\u2013346 (2024)."},{"key":"2535_CR46","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/s41586-022-04640-1","volume":"604","author":"MB Miller","year":"2022","unstructured":"Miller, M. B. et al. Somatic genomic changes in single Alzheimer\u2019s disease neurons. Nature 604, 714\u2013722 (2022).","journal-title":"Nature"},{"key":"2535_CR47","doi-asserted-by":"crossref","unstructured":"Project MinE ALS Sequencing Consortium. Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. Eur. J. Hum. Genet. 26, 1537\u20131546 (2018).","DOI":"10.1038\/s41431-018-0177-4"},{"key":"2535_CR48","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1002\/mgg3.302","volume":"5","author":"FC Garton","year":"2017","unstructured":"Garton, F. C. et al. Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. Mol. Genet. Genomic Med. 5, 418\u2013428 (2017).","journal-title":"Mol. Genet. Genomic Med."},{"key":"2535_CR49","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1136\/jmedgenet-2020-106866","volume":"58","author":"EP McCann","year":"2021","unstructured":"McCann, E. P. et al. Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis. J. Med. Genet. 58, 87\u201395 (2021).","journal-title":"J. Med. Genet."},{"key":"2535_CR50","doi-asserted-by":"crossref","DOI":"10.1186\/s13073-017-0487-0","volume":"9","author":"J Gratten","year":"2017","unstructured":"Gratten, J. et al. Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. Genome Med. 9, 97 (2017).","journal-title":"Genome Med."},{"key":"2535_CR51","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1080\/146608200300079536","volume":"1","author":"BR Brooks","year":"2000","unstructured":"Brooks, B. R., Miller, R. G., Swash, M. & Munsat, T. L. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Other Motor Neuron Disord. 1, 293\u2013299 (2000).","journal-title":"Amyotroph. Lateral Scler. Other Motor Neuron Disord."},{"key":"2535_CR52","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","volume":"590","author":"D Taliun","year":"2021","unstructured":"Taliun, D. et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature 590, 290\u2013299 (2021).","journal-title":"Nature"},{"key":"2535_CR53","doi-asserted-by":"crossref","first-page":"D975","DOI":"10.1093\/nar\/gkt1211","volume":"42","author":"KA Tryka","year":"2014","unstructured":"Tryka, K. A. et al. NCBI\u2019s database of genotypes and phenotypes: dbGaP. Nucleic Acids Res. 42, D975\u2013D979 (2014).","journal-title":"Nucleic Acids Res."},{"key":"2535_CR54","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1038\/s41588-024-01787-7","volume":"56","author":"PJ Hop","year":"2024","unstructured":"Hop, P. J. et al. Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson\u2019s disease. Nat. Genet. 56, 1371\u20131376 (2024).","journal-title":"Nat. Genet."},{"key":"2535_CR55","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows\u2013Wheeler transform. Bioinformatics 25, 1754\u20131760 (2009).","journal-title":"Bioinformatics"},{"key":"2535_CR56","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","volume":"6","author":"P Cingolani","year":"2012","unstructured":"Cingolani, P. et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w 1118; iso-2; iso-3. Fly (Austin) 6, 80\u201392 (2012).","journal-title":"Fly (Austin)"},{"key":"2535_CR57","doi-asserted-by":"crossref","first-page":"13534","DOI":"10.1093\/nar\/gku1206","volume":"42","author":"X Jian","year":"2014","unstructured":"Jian, X., Boerwinkle, E. & Liu, X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res. 42, 13534\u201313544 (2014).","journal-title":"Nucleic Acids Res."},{"key":"2535_CR58","doi-asserted-by":"crossref","first-page":"D754","DOI":"10.1093\/nar\/gkx1098","volume":"46","author":"DR Zerbino","year":"2018","unstructured":"Zerbino, D. R. et al. Ensembl 2018. Nucleic Acids Res. 46, D754\u2013D761 (2018).","journal-title":"Nucleic Acids Res."},{"key":"2535_CR59","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/j.ajhg.2015.04.018","volume":"96","author":"C Wang","year":"2015","unstructured":"Wang, C., Zhan, X., Liang, L., Abecasis, G. R. & Lin, X. Improved ancestry estimation for both genotyping and sequencing data using projection procrustes analysis and genotype Imputation. Am. J. Hum. Genet. 96, 926\u2013937 (2015).","journal-title":"Am. J. Hum. Genet."},{"key":"2535_CR60","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1038\/nprot.2010.116","volume":"5","author":"CA Anderson","year":"2010","unstructured":"Anderson, C. A. et al. Data quality control in genetic case-control association studies. Nat. Protoc. 5, 1564\u20131573 (2010).","journal-title":"Nat. Protoc."},{"key":"2535_CR61","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1093\/bioinformatics\/btq559","volume":"26","author":"A Manichaikul","year":"2010","unstructured":"Manichaikul, A. et al. Robust relationship inference in genome-wide association studies. Bioinformatics 26, 2867\u20132873 (2010).","journal-title":"Bioinformatics"},{"key":"2535_CR62","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.ajhg.2015.12.022","volume":"98","author":"KJ Galinsky","year":"2016","unstructured":"Galinsky, K. J. et al. Fast principal-component analysis reveals convergent evolution of ADH1B in Europe and East Asia. Am. J. Hum. Genet. 98, 456\u2013472 (2016).","journal-title":"Am. J. Hum. Genet."},{"key":"2535_CR63","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1002\/sim.1047","volume":"21","author":"G Heinze","year":"2002","unstructured":"Heinze, G. & Schemper, M. A solution to the problem of separation in logistic regression. Stat. Med. 21, 2409\u20132419 (2002).","journal-title":"Stat. Med."},{"key":"2535_CR64","doi-asserted-by":"crossref","unstructured":"Ma, C., Blackwell, T., Boehnke, M., Scott, L. J. & GoT2D Investigators. Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants: joint and meta-analysis of low-count variants. Genet. Epidemiol. 37, 539\u2013550 (2013).","DOI":"10.1002\/gepi.21742"},{"key":"2535_CR65","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1038\/s41588-021-00870-7","volume":"53","author":"J Mbatchou","year":"2021","unstructured":"Mbatchou, J. et al. Computationally efficient whole-genome regression for quantitative and binary traits. Nat. Genet. 53, 1097\u20131103 (2021).","journal-title":"Nat. Genet."},{"key":"2535_CR66","doi-asserted-by":"crossref","first-page":"e1010546","DOI":"10.1371\/journal.pgen.1010546","volume":"19","author":"A Forde","year":"2023","unstructured":"Forde, A., Hemani, G. & Ferguson, J. Review and further developments in statistical corrections for Winner\u2019s Curse in genetic association studies. PLoS Genet. 19, e1010546 (2023).","journal-title":"PLoS Genet."},{"key":"2535_CR67","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","volume":"26","author":"CJ Willer","year":"2010","unstructured":"Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190\u20132191 (2010).","journal-title":"Bioinformatics"},{"key":"2535_CR68","doi-asserted-by":"publisher","unstructured":"Sayols, S. rrvgo: a Bioconductor package for interpreting lists of Gene Ontology terms. MicroPubl. Biol. https:\/\/doi.org\/10.17912\/micropub.biology.000811 (2023).","DOI":"10.17912\/micropub.biology.000811"},{"key":"2535_CR69","doi-asserted-by":"publisher","unstructured":"Kooyman, M. maarten-k\/realignment: pipeline for exome and WGS(DF3) pipeline. Zenodo https:\/\/doi.org\/10.5281\/zenodo.10963075 (2024).","DOI":"10.5281\/zenodo.10963075"},{"key":"2535_CR70","doi-asserted-by":"publisher","unstructured":"Hop, P. J. et al. KennaLab\/rvat: v.2.0.9. Zenodo https:\/\/doi.org\/10.5281\/zenodo.10959178 (2025).","DOI":"10.5281\/zenodo.10959178"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41588-026-02535-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41588-026-02535-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41588-026-02535-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T05:17:25Z","timestamp":1776316645000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41588-026-02535-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,31]]},"references-count":70,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["2535"],"URL":"https:\/\/doi.org\/10.1038\/s41588-026-02535-9","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,31]]},"assertion":[{"value":"15 August 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 January 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"J.H., Y.H., C.-Y.C., E.A.T. and H.R. are current or previous employees of Biogen. P.M.A. has served on advisory boards for Biogen, Regeneron, uniQure, Orphazyme A\/S and Mitsubishi Pharma (mostly paid to institution). A.A.K. received consulting fees from the UK National Endowment for Science, Technology and the Arts (NESTA). N.T. received compensation for consulting services from Amylyx Pharmaceutical, Biogen, Italfarmaco and Zambon Biotech SA. V.S. received compensation for consulting services and\/or speaking activities from AveXis, Cytokinetics, Italfarmaco, Liquidweb S.r.l., Novartis Pharma AG, Amylyx Pharmaceuticals, Biogen and Zambon Biotech SA, receives or has received research support from the Italian Ministry of Health, AriSLA and E-Rare Joint Transnational Call and is on the Editorial Board of\n                      Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration\n                      ,\n                      European Neurology\n                      ,\n                      American Journal of Neurodegenerative Diseases\n                      ,\n                      Frontiers in Neurology\n                      and\n                      Exploration of Neuroprotective Therapy\n                      . P.V.D. has served in advisory boards for Biogen, CSL Behring, Alexion Pharmaceuticals, Ferrer, QurAlis, Cytokinetics, argenx, UCB, Muna Therapeutics, Alector, Augustine Therapeutics, VectorY, Zambon, Amylyx, Novartis, Prilenia, Verge Genomics, Sapreme Technologies, Trace Neuroscience and NRG Therapeutics (paid to institution). P.V.D. has received speaker fees from Biogen and Amylyx (paid to institution). P.V.D. is supported by the E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders (paid to institution). A.A.-C. reports consultancies or advisory boards for Amylyx, Apellis, Biogen, Clene Therapeutics, Cytokinetics, GenieUs, GSK, Lilly, Mitsubishi Tanabe Pharma, Novartis, OrionPharma, Quralis, Sano Genetics, Sanofi, Voyager Therapeutics and Wave Pharmaceuticals and the following patents or patent applications: WO2024121173A1 and EP 25 306 172.5. J.H.V. reports to have sponsored research agreements with Biogen, Eli Lilly, Trace and Astra Zeneca. The other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}