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: banerjee d.
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.