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Page 1
Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.
Steinthorsdottir V, Halldorsson BV, Jonsson H, Palsson G, Oddsson A, Westergaard D, Arnadottir GA, Stefansdottir L, Banasik K, Esplin MS, Hansen TF, Brunak S, Nyegaard M, Ostrowski SR, Pedersen OBV, Erikstrup C; DBDS genomics consortium; Thorleifsson G, Nadauld LD, Haraldsson A, Steingrimsdottir T, Tryggvadottir L, Jonsdottir I, Gudbjartsson DF, Hoffmann ER, Sulem P, Holm H, Nielsen HS, Stefansson K. Steinthorsdottir V, et al. Among authors: hoffmann er. Nat Struct Mol Biol. 2024 Apr;31(4):710-716. doi: 10.1038/s41594-023-01209-y. Epub 2024 Jan 29. Nat Struct Mol Biol. 2024. PMID: 38287193 Free PMC article.
Genetic predisposition to mosaic Y chromosome loss in blood.
Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, Davidsson OB, Day FR, Sulem P, Jiang Y, Danielsson M, Davies H, Dennis J, Dunlop MG, Easton DF, Fisher VA, Zink F, Houlston RS, Ingelsson M, Kar S, Kerrison ND, Kinnersley B, Kristjansson RP, Law PJ, Li R, Loveday C, Mattisson J, McCarroll SA, Murakami Y, Murray A, Olszewski P, Rychlicka-Buniowska E, Scott RA, Thorsteinsdottir U, Tomlinson I, Moghadam BT, Turnbull C, Wareham NJ, Gudbjartsson DF; International Lung Cancer Consortium (INTEGRAL-ILCCO); Breast Cancer Association Consortium; Consortium of Investigators of Modifiers of BRCA1/2; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium; Kidney Cancer GWAS Meta-Analysis Project; eQTLGen Consortium; Biobank-based Integrative Omics Study (BIOS) Consortium; 23andMe Research Team; Kamatani Y, Hoffmann ER, Jackson SP, Stefansson K, Auton A, Ong KK, Machiela MJ, Loh PR, Dumanski JP, Chanock SJ, Forsberg LA, Perry JRB. Thompson DJ, et al. Among authors: hoffmann er. Nature. 2019 Nov;575(7784):652-657. doi: 10.1038/s41586-019-1765-3. Epub 2019 Nov 20. Nature. 2019. PMID: 31748747 Free PMC article.
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Antibodies at Delivery in Women, Partners, and Newborns.
Egerup P, Fich Olsen L, Christiansen AH, Westergaard D, Severinsen ER, Hviid KVR, Kolte AM, Boje AD, Bertelsen MMF, Prætorius L, Zedeler A, Nielsen JR, Bang D, Berntsen S, Ethelberg-Findsen J, Storm DM, Bello-Rodríguez J, Ingham A, Ollé-López J, Hoffmann ER, Wilken-Jensen C, Krebs L, Jørgensen FS, Westh H, Jørgensen HL, la Cour Freiesleben N, Nielsen HS. Egerup P, et al. Among authors: hoffmann er. Obstet Gynecol. 2021 Jan 1;137(1):49-55. doi: 10.1097/AOG.0000000000004199. Obstet Gynecol. 2021. PMID: 33116054
SARS-CoV-2 in first trimester pregnancy: a cohort study.
la Cour Freiesleben N, Egerup P, Hviid KVR, Severinsen ER, Kolte AM, Westergaard D, Fich Olsen L, Prætorius L, Zedeler A, Christiansen AH, Nielsen JR, Bang D, Berntsen S, Ollé-López J, Ingham A, Bello-Rodríguez J, Storm DM, Ethelberg-Findsen J, Hoffmann ER, Wilken-Jensen C, Jørgensen FS, Westh H, Jørgensen HL, Nielsen HS. la Cour Freiesleben N, et al. Among authors: hoffmann er. Hum Reprod. 2021 Jan 1;36(1):40-47. doi: 10.1093/humrep/deaa311. Hum Reprod. 2021. PMID: 33145598 Free PMC article.
Genetic insights into biological mechanisms governing human ovarian ageing.
Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, Gonzalez JM, Fontanillas P, Claringbould A, Bakker OB, Sulem P, Walters RG, Terao C, Turon S, Horikoshi M, Lin K, Onland-Moret NC, Sankar A, Hertz EPT, Timshel PN, Shukla V, Borup R, Olsen KW, Aguilera P, Ferrer-Roda M, Huang Y, Stankovic S, Timmers PRHJ, Ahearn TU, Alizadeh BZ, Naderi E, Andrulis IL, Arnold AM, Aronson KJ, Augustinsson A, Bandinelli S, Barbieri CM, Beaumont RN, Becher H, Beckmann MW, Benonisdottir S, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Boomsma DI, Bowker N, Brody JA, Broer L, Buring JE, Campbell A, Campbell H, Castelao JE, Catamo E, Chanock SJ, Chenevix-Trench G, Ciullo M, Corre T, Couch FJ, Cox A, Crisponi L, Cross SS, Cucca F, Czene K, Smith GD, de Geus EJCN, de Mutsert R, De Vivo I, Demerath EW, Dennis J, Dunning AM, Dwek M, Eriksson M, Esko T, Fasching PA, Faul JD, Ferrucci L, Franceschini N, Frayling TM, Gago-Dominguez M, Mezzavilla M, García-Closas M, Gieger C, Giles GG, Grallert H, Gudbjartsson DF, Gudnason V, Guénel P, Haiman CA, Håkansson N, Hall P, Hayward C, He C, He W, Heiss G, Høffding MK, Hopper JL, Hottenga JJ,… See abstract for full author list ➔ Ruth KS, et al. Among authors: hoffmann er. Nature. 2021 Aug;596(7872):393-397. doi: 10.1038/s41586-021-03779-7. Epub 2021 Aug 4. Nature. 2021. PMID: 34349265 Free PMC article.
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
Mathieson I, Day FR, Barban N, Tropf FC, Brazel DM; eQTLGen Consortium; BIOS Consortium; Vaez A, van Zuydam N, Bitarello BD, Gardner EJ, Akimova ET, Azad A, Bergmann S, Bielak LF, Boomsma DI, Bosak K, Brumat M, Buring JE, Cesarini D, Chasman DI, Chavarro JE, Cocca M, Concas MP, Davey Smith G, Davies G, Deary IJ, Esko T, Faul JD; FinnGen Study; Franco O, Ganna A, Gaskins AJ, Gelemanovic A, de Geus EJC, Gieger C, Girotto G, Gopinath B, Grabe HJ, Gunderson EP, Hayward C, He C, van Heemst D, Hill WD, Hoffmann ER, Homuth G, Hottenga JJ, Huang H, Hyppӧnen E, Ikram MA, Jansen R, Johannesson M, Kamali Z, Kardia SLR, Kavousi M, Kifley A, Kiiskinen T, Kraft P, Kühnel B, Langenberg C, Liew G; Lifelines Cohort Study; Lind PA, Luan J, Mägi R, Magnusson PKE, Mahajan A, Martin NG, Mbarek H, McCarthy MI, McMahon G, Medland SE, Meitinger T, Metspalu A, Mihailov E, Milani L, Missmer SA, Mitchell P, Møllegaard S, Mook-Kanamori DO, Morgan A, van der Most PJ, de Mutsert R, Nauck M, Nolte IM, Noordam R, Penninx BWJH, Peters A, Peyser PA, Polašek O, Power C, Pribisalic A, Redmond P, Rich-Edwards JW, Ridker PM, Rietveld CA, Ring SM, Rose LM, Rueedi R, Shukla V, Smith JA, Stankovic S, Stefánsson K,… See abstract for full author list ➔ Mathieson I, et al. Among authors: hoffmann er. Nat Hum Behav. 2023 May;7(5):790-801. doi: 10.1038/s41562-023-01528-6. Epub 2023 Mar 2. Nat Hum Behav. 2023. PMID: 36864135 Free article.
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, Day FR, Baptista J, Wright CF, Weedon MN, Hoffmann ER, Ruth KS, Ong KK, Perry JRB, Murray A. Shekari S, et al. Among authors: hoffmann er. Nat Med. 2023 Jul;29(7):1692-1699. doi: 10.1038/s41591-023-02405-5. Epub 2023 Jun 22. Nat Med. 2023. PMID: 37349538
Regulation of the MLH1-MLH3 endonuclease in meiosis.
Cannavo E, Sanchez A, Anand R, Ranjha L, Hugener J, Adam C, Acharya A, Weyland N, Aran-Guiu X, Charbonnier JB, Hoffmann ER, Borde V, Matos J, Cejka P. Cannavo E, et al. Among authors: hoffmann er. Nature. 2020 Oct;586(7830):618-622. doi: 10.1038/s41586-020-2592-2. Epub 2020 Aug 19. Nature. 2020. PMID: 32814904 Free article.
128 results