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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. 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
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. 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.
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Lansdon LA, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, Bonde G, Long A, Standley J, Tyryshkina A, Wehby G, Lee NR, Daack-Hirsch S, Mohlke K, Girirajan S, Darbro BW, Cornell RA, Houston DW, Murray JC, Manak JR. Lansdon LA, et al. Am J Hum Genet. 2023 Jan 5;110(1):71-91. doi: 10.1016/j.ajhg.2022.11.012. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493769 Free PMC article.
The gene dose makes the disease.
Smolen C, Girirajan S. Smolen C, et al. Cell. 2022 Aug 4;185(16):2850-2852. doi: 10.1016/j.cell.2022.07.005. Cell. 2022. PMID: 35931018 Free PMC article.
30 results