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141 results

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Page 1
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B, Pastorino L, Nathan V, Shah NN, Palmer JM, Howlie M, Johansson PA, Freedman ND, Carter BD, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos AJ, Helsing P, Van Doorn R, Gruis NA, Visser M, Wadt KAW, Mann G, Holland EA, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli MC, Calista D, Soufir N, Harland M, Bishop T, Kanetsky PA, Elder DE, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker MA, Yang XR, Andresen PA, Adams DJ, Landi MT, Hayward NK, Goldstein AM, Ghiorzo P; GenoMEL; MelaNostrum consortia. Dalmasso B, et al. Among authors: helgadottir h. Genet Med. 2021 Nov;23(11):2087-2095. doi: 10.1038/s41436-021-01240-8. Epub 2021 Jul 14. Genet Med. 2021. PMID: 34262154 Free PMC article.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Lindstrand A, et al. Among authors: helgadottir ht. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
A variant in MCF2L is associated with osteoarthritis.
Day-Williams AG, Southam L, Panoutsopoulou K, Rayner NW, Esko T, Estrada K, Helgadottir HT, Hofman A, Ingvarsson T, Jonsson H, Keis A, Kerkhof HJ, Thorleifsson G, Arden NK, Carr A, Chapman K, Deloukas P, Loughlin J, McCaskie A, Ollier WE, Ralston SH, Spector TD, Wallis GA, Wilkinson JM, Aslam N, Birell F, Carluke I, Joseph J, Rai A, Reed M, Walker K; arcOGEN Consortium; Doherty SA, Jonsdottir I, Maciewicz RA, Muir KR, Metspalu A, Rivadeneira F, Stefansson K, Styrkarsdottir U, Uitterlinden AG, van Meurs JB, Zhang W, Valdes AM, Doherty M, Zeggini E. Day-Williams AG, et al. Among authors: helgadottir ht. Am J Hum Genet. 2011 Sep 9;89(3):446-50. doi: 10.1016/j.ajhg.2011.08.001. Epub 2011 Aug 25. Am J Hum Genet. 2011. PMID: 21871595 Free PMC article.
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Stacey SN, Sulem P, Gudbjartsson DF, Jonasdottir A, Thorleifsson G, Gudjonsson SA, Masson G, Gudmundsson J, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Hemminki K, Nexø BA, Tjønneland A, Overvad K, Johannsdottir H, Helgadottir HT, Thorsteinsdottir U, Kong A, Vogel U, Kumar R, Nagore E, Mayordomo JI, Rafnar T, Olafsson JH, Stefansson K. Stacey SN, et al. Among authors: helgadottir ht. Hum Mol Genet. 2014 Jun 1;23(11):3045-53. doi: 10.1093/hmg/ddt671. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403052 Free PMC article.
HLA class II sequence variants influence tuberculosis risk in populations of European ancestry.
Sveinbjornsson G, Gudbjartsson DF, Halldorsson BV, Kristinsson KG, Gottfredsson M, Barrett JC, Gudmundsson LJ, Blondal K, Gylfason A, Gudjonsson SA, Helgadottir HT, Jonasdottir A, Jonasdottir A, Karason A, Kardum LB, Knežević J, Kristjansson H, Kristjansson M, Love A, Luo Y, Magnusson OT, Sulem P, Kong A, Masson G, Thorsteinsdottir U, Dembic Z, Nejentsev S, Blondal T, Jonsdottir I, Stefansson K. Sveinbjornsson G, et al. Among authors: helgadottir ht. Nat Genet. 2016 Mar;48(3):318-22. doi: 10.1038/ng.3498. Epub 2016 Feb 1. Nat Genet. 2016. PMID: 26829749 Free PMC article.
Colorectal cancer risk susceptibility loci in a Swedish population.
Liu W, Mahdessian H, Helgadottir H, Zhou X, Thutkawkorapin J, Jiao X; Swedish Low-risk Colorectal Cancer Study Group; Wolk A, Lindblom A. Liu W, et al. Among authors: helgadottir h. Mol Carcinog. 2022 Mar;61(3):288-300. doi: 10.1002/mc.23366. Epub 2021 Nov 10. Mol Carcinog. 2022. PMID: 34758156
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
Styrkarsdottir U, Thorleifsson G, Helgadottir HT, Bomer N, Metrustry S, Bierma-Zeinstra S, Strijbosch AM, Evangelou E, Hart D, Beekman M, Jonasdottir A, Sigurdsson A, Eiriksson FF, Thorsteinsdottir M, Frigge ML, Kong A, Gudjonsson SA, Magnusson OT, Masson G; TREAT-OA Consortium; arcOGEN Consortium; Hofman A, Arden NK, Ingvarsson T, Lohmander S, Kloppenburg M, Rivadeneira F, Nelissen RG, Spector T, Uitterlinden A, Slagboom PE, Thorsteinsdottir U, Jonsdottir I, Valdes AM, Meulenbelt I, van Meurs J, Jonsson H, Stefansson K. Styrkarsdottir U, et al. Among authors: helgadottir ht. Nat Genet. 2014 May;46(5):498-502. doi: 10.1038/ng.2957. Epub 2014 Apr 13. Nat Genet. 2014. PMID: 24728293
141 results