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2008 2
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Page 1
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà GML, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: dyer l. medRxiv [Preprint]. 2023 May 26:2023.05.18.23290169. doi: 10.1101/2023.05.18.23290169. medRxiv. 2023. PMID: 37292616 Free PMC article. Updated. Preprint.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: dyer l. Am J Hum Genet. 2023 Dec 7;110(12):2015-2028. doi: 10.1016/j.ajhg.2023.10.015. Epub 2023 Nov 17. Am J Hum Genet. 2023. PMID: 37979581
ATM is required for SOD2 expression and homeostasis within the mammary gland.
Dyer LM, Kepple JD, Ai L, Kim WJ, Stanton VL, Reinhard MK, Backman LRF, Streitfeld WS, Babu NR, Treiber N, Scharffetter-Kochanek K, McKinnon PJ, Brown KD. Dyer LM, et al. Breast Cancer Res Treat. 2017 Dec;166(3):725-741. doi: 10.1007/s10549-017-4424-0. Epub 2017 Aug 28. Breast Cancer Res Treat. 2017. PMID: 28849346 Free PMC article.
Comparative epigenomics of human and mouse mammary tumors.
Demircan B, Dyer LM, Gerace M, Lobenhofer EK, Robertson KD, Brown KD. Demircan B, et al. Among authors: dyer lm. Genes Chromosomes Cancer. 2009 Jan;48(1):83-97. doi: 10.1002/gcc.20620. Genes Chromosomes Cancer. 2009. PMID: 18836996 Free PMC article.
20 results