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Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study.
Schlaikjær Hartwig T, Ambye L, Gruhn JR, Petersen JF, Wrønding T, Amato L, Chi-Ho Chan A, Ji B, Bro-Jørgensen MH, Werge L, Petersen MMBS, Brinkmann C, Petersen JB, Dunø M, Bache I, Herrgård MJ, Jørgensen FS, Hoffmann ER, Nielsen HS; COPL consortium. Schlaikjær Hartwig T, et al. Among authors: hoffmann er. Lancet. 2023 Mar 4;401(10378):762-771. doi: 10.1016/S0140-6736(22)02610-1. Epub 2023 Feb 2. Lancet. 2023. PMID: 36739882
Fancm has dual roles in the limiting of meiotic crossovers and germ cell maintenance in mammals.
Tsui V, Lyu R, Novakovic S, Stringer JM, Dunleavy JEM, Granger E, Semple T, Leichter A, Martelotto LG, Merriner DJ, Liu R, McNeill L, Zerafa N, Hoffmann ER, O'Bryan MK, Hutt K, Deans AJ, Heierhorst J, McCarthy DJ, Crismani W. Tsui V, et al. Among authors: hoffmann er. Cell Genom. 2023 Jun 29;3(8):100349. doi: 10.1016/j.xgen.2023.100349. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601968 Free PMC article.
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.
Childhood BMI after ART with frozen embryo transfer.
Asserhøj LL, Mizrak I, Heldarskard GF, Clausen TD, Hoffmann ER, Greisen G, Main KM, Madsen PL, Jensen RB, Pinborg A. Asserhøj LL, et al. Among authors: hoffmann er. Hum Reprod. 2023 Aug 1;38(8):1578-1589. doi: 10.1093/humrep/dead127. Hum Reprod. 2023. PMID: 37349895
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
122 results