Article
A de novo paradigm for male infertility.
Nature communications - 10 Jan 2022
Oud M S, Smits R M, Smith H E, Mastrorosa F K, Holt G S, Houston B J, de Vries P F, Alobaidi B K S, Batty L E, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti G D N, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat D D M, Fleischer K, D'Hauwers K W M, Schaafsma E, Nagirnaja L, Conrad D F, Friedrich C, Kliesch S, Aston K I, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott D J, Vissers L E L M, Tüttelmann F, O'Bryan M K, Ramos L, Xavier M J, van der Heijden G W, Veltman J A
Abstract excerpt
De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic...
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