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Page 1
Publisher Correction: Transformers significantly improve splice site prediction.
Jónsson BA, Halldórsson GH, Árdal S, Rögnvaldsson S, Einarsson E, Sulem P, Guðbjartsson DF, Melsted P, Stefánsson K, Úlfarsson MÖ. Jónsson BA, et al. Among authors: sulem p. Commun Biol. 2024 Dec 18;7(1):1640. doi: 10.1038/s42003-024-07379-9. Commun Biol. 2024. PMID: 39695339 Free PMC article. No abstract available.
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
Kjærsgaard Andersen R, Stefansdottir L, Riis PT, Halldorsson G, Ferkingstad E, Oddsson A, Walters B, Olafsdottir TA, Rutsdottir G, Zachariae C, Thomsen SF, Brodersen T, Dinh KM, Knowlton KU, Knight S, Nadauld LD, Banasik K, Brunak S, Hansen TF, Hjalgrim H, Sørensen E, Mikkelsen C, Ullum H, Nyegaard M, Bruun MT, Erikstrup C, Ostrowski SR, Eidsmo L, Saunte DML, Sigurgeirsson B, Orvar KB, Saemundsdottir J, Melsted P, Norddahl GL, Sulem P, Stefansson H, Holm H, Gudbjartsson D, Thorleifsson G, Jonsdottir I, Pedersen OBV, Jemec GBE, Stefansson K. Kjærsgaard Andersen R, et al. Among authors: sulem p. J Am Acad Dermatol. 2024 Dec 5:S0190-9622(24)03292-4. doi: 10.1016/j.jaad.2024.11.050. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 39645042 Free article.
Novel loci and biomedical consequences of iron homoeostasis variation.
Allara E, Bell S, Smith R, Keene SJ, Gill D, Gaziano L, Morselli Gysi D, Wang F, Tragante V, Mason A, Karthikeyan S, Lumbers RT, Bonglack E, Ouwehand W, Roberts DJ, Dowsett J, Ostrowski SR, Larsen MH, Ullum H, Pedersen OB, Brunak S, Banasik K, Erikstrup C; DBDS Genomic Consortium; Mitchell J, Fuchsberger C, Pattaro C, Pramstaller PP, Girelli D, Arvas M, Toivonen J, Molnos S, Peters A, Polasek O, Rudan I, Hayward C, McDonnell C, Pirastu N, Wilson JF, van den Hurk K, Quee F, Ferrucci L, Bandinelli S, Tanaka T, Girotto G, Concas MP, Pecori A, Verweij N, van der Harst P, van de Vegte YJ, Kiemeney LA, Sweep FC, Galesloot TE, Sulem P, Gudbjartsson D, Ferkingstad E; FinnGen Consortium; Djousse L, Cho K, Inouye M, Burgess S, Benyamin B, Oexle K, Swinkels D, Stefansson K, Magnusson M, Ganna A, Gaziano M, Ivey K, Danesh J, Pereira A, Wood AM, Butterworth AS, Di Angelantonio E. Allara E, et al. Among authors: sulem p. Commun Biol. 2024 Dec 6;7(1):1631. doi: 10.1038/s42003-024-07115-3. Commun Biol. 2024. PMID: 39643614 Free PMC article.
Transformers significantly improve splice site prediction.
Jónsson BA, Halldórsson GH, Árdal S, Rögnvaldsson S, Einarsson E, Sulem P, Guðbjartsson DF, Melsted P, Stefánsson K, Úlfarsson MÖ. Jónsson BA, et al. Among authors: sulem p. Commun Biol. 2024 Dec 4;7(1):1616. doi: 10.1038/s42003-024-07298-9. Commun Biol. 2024. PMID: 39633146 Free PMC article.
Sequence variants associated with BMI affect disease risk through BMI itself.
Einarsson G, Thorleifsson G, Steinthorsdottir V, Zink F, Helgason H, Olafsdottir T, Rognvaldsson S, Tragante V, Ulfarsson MO, Sveinbjornsson G, Snaebjarnarson AS, Einarsson H, Aegisdottir HM, Jonsdottir GA, Helgadottir A, Gretarsdottir S, Styrkarsdottir U, Arnason HK, Bjarnason R, Sigurdsson E, Arnar DO, Bjornsson ES, Palsson R, Bjornsdottir G, Stefansson H, Thorgeirsson T, Sulem P, Thorsteinsdottir U, Holm H, Gudbjartsson DF, Stefansson K. Einarsson G, et al. Among authors: sulem p. Nat Commun. 2024 Nov 12;15(1):9335. doi: 10.1038/s41467-024-53568-9. Nat Commun. 2024. PMID: 39532837 Free PMC article.
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
Ivarsdottir EV, Gudmundsson J, Tragante V, Sveinbjornsson G, Kristmundsdottir S, Stacey SN, Halldorsson GH, Magnusson MI, Oddsson A, Walters GB, Sigurdsson A, Saevarsdottir S, Beyter D, Thorleifsson G, Halldorsson BV, Melsted P, Stefansson H, Jonsdottir I, Sørensen E, Pedersen OB, Erikstrup C, Bøgsted M, Pøhl M, Røder A, Stroomberg HV, Gögenur I, Hillingsø J, Bojesen SE, Lassen U, Høgdall E, Ullum H, Brunak S, Ostrowski SR; DBDS Genomic Consortium; Sonderby IE, Frei O, Djurovic S, Havdahl A, Moller P, Dominguez-Valentin M, Haavik J, Andreassen OA, Hovig E, Agnarsson BA, Hilmarsson R, Johannsson OT, Valdimarsson T, Jonsson S, Moller PH, Olafsson JH, Sigurgeirsson B, Jonasson JG, Tryggvason G, Holm H, Sulem P, Rafnar T, Gudbjartsson DF, Stefansson K. Ivarsdottir EV, et al. Among authors: sulem p. Nat Genet. 2024 Nov;56(11):2422-2433. doi: 10.1038/s41588-024-01966-6. Epub 2024 Oct 29. Nat Genet. 2024. PMID: 39472694
A partial loss-of-function variant in STAT6 protects against type 2 asthma.
Kristjansdottir K, Norddahl GL, Ivarsdottir EV, Halldorsson GH, Einarsson G, Bjarnadottir K, Rutsdottir G, Arnthorsson AO, Erikstrup C, Gudmundsdottir S, Gunnarsdottir K, Gunnbjornsdottir MI, Halldorsson BV, Holm H, Ludviksdottir D, Ludviksson BR, Brunak S, Bruun MT, Mikkelsen C, Mikkelsen S, Jensen BA, Sørensen E, Thomsen SF, Ullum H, Olafsson I, Onundarson PT, Ostrowski SR, Saevarsdottir S, Sigurdardottir O, Sigurgeirsson B, Snaebjarnarson AS, Sveinbjornsson G, Thorlacius GE, Thorleifsson G, Tragante V, Vidarsson B, Porsbjerg C, Bjornsdottir US, Sulem P, Gudbjartsson DF, Melsted P, Pedersen OB, Jonsdottir I, Olafsdottir TA, Stefansson K. Kristjansdottir K, et al. Among authors: sulem p. J Allergy Clin Immunol. 2025 Jan;155(1):228-235. doi: 10.1016/j.jaci.2024.10.002. Epub 2024 Oct 16. J Allergy Clin Immunol. 2025. PMID: 39423878 Free article.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: sulem p. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
Sequence variants influencing the regulation of serum IgG subclass levels.
Olafsdottir TA, Thorleifsson G, Lopez de Lapuente Portilla A, Jonsson S, Stefansdottir L, Niroula A, Jonasdottir A, Eggertsson HP, Halldorsson GH, Thorlacius GE, Arnthorsson AO, Bjornsdottir US, Asselbergs FW, Bentlage AEH, Eyjolfsson GI, Gudmundsdottir S, Gunnarsdottir K, Halldorsson BV, Holm H, Ludviksson BR, Melsted P, Norddahl GL, Olafsson I, Saevarsdottir S, Sigurdardottir O, Sigurdsson A, Temming R, Önundarson PT, Thorsteinsdottir U, Vidarsson G, Sulem P, Gudbjartsson DF, Jonsdottir I, Nilsson B, Stefansson K. Olafsdottir TA, et al. Among authors: sulem p. Nat Commun. 2024 Sep 14;15(1):8054. doi: 10.1038/s41467-024-52470-8. Nat Commun. 2024. PMID: 39277589 Free PMC article.
Genetic links between ovarian ageing, cancer risk and de novo mutation rates.
Stankovic S, Shekari S, Huang QQ, Gardner EJ, Ivarsdottir EV, Owens NDL, Mavaddat N, Azad A, Hawkes G, Kentistou KA, Beaumont RN, Day FR, Zhao Y, Jonsson H, Rafnar T, Tragante V, Sveinbjornsson G, Oddsson A, Styrkarsdottir U, Gudmundsson J, Stacey SN, Gudbjartsson DF; Breast Cancer Association Consortium; Kennedy K, Wood AR, Weedon MN, Ong KK, Wright CF, Hoffmann ER, Sulem P, Hurles ME, Ruth KS, Martin HC, Stefansson K, Perry JRB, Murray A. Stankovic S, et al. Among authors: sulem p. Nature. 2024 Sep;633(8030):608-614. doi: 10.1038/s41586-024-07931-x. Epub 2024 Sep 11. Nature. 2024. PMID: 39261734 Free PMC article.
289 results