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Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.
Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT, Erikstrup C, Jensen BA, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sorensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Hubers N; Genes & Health Research Team; Estonian Biobank Research Team; Estonian Health Informatics Research Team; DBDS Genomic Consortium; FinnGen; Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM. Venkatesh SS, et al. Among authors: lippincott m. medRxiv [Preprint]. 2024 Mar 20:2024.03.19.24304530. doi: 10.1101/2024.03.19.24304530. medRxiv. 2024. PMID: 38562841 Free PMC article. Preprint.
Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism.
Lippincott MF, Schafer EC, Hindman AA, He W, Brauner R, Delaney A, Grinspon R, Hall JE, Hirschhorn JN, McElreavey K, Palmert MR, Rey R, Seminara SB, Salem RM, Chan YM; Delayed Puberty Genetics Consortium. Lippincott MF, et al. J Clin Endocrinol Metab. 2024 Mar 13:dgae166. doi: 10.1210/clinem/dgae166. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38477512
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB. Lippincott MF, et al. Genet Med. 2022 Dec;24(12):2501-2515. doi: 10.1016/j.gim.2022.08.025. Epub 2022 Sep 30. Genet Med. 2022. PMID: 36178483 Free PMC article.
Genetic and Epigenetic Inheritance at Telomeres.
Lister-Shimauchi EH, McCarthy B, Lippincott M, Ahmed S. Lister-Shimauchi EH, et al. Among authors: lippincott m. Epigenomes. 2022 Mar 16;6(1):9. doi: 10.3390/epigenomes6010009. Epigenomes. 2022. PMID: 35323213 Free PMC article. Review.
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