MRC Epidemiology Unit

 

The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra.

Garcia-Salinas OI, Hwang S, Huang QQ, Sanghvi R, Malawsky DS, Kaplanis J, Neville MDC, Day FR, Rahbari R, Scally A, Martin HC

Nature communications. May 2025

(DOI : 10.1038/s41467-025-59750-x)

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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Chundru VK, Zhang Z, Walter K, Lindsay SJ, Danecek P, Eberhardt RY, Gardner EJ, Malawsky DS, Wigdor EM, Torene R, Retterer K, Wright CF, Ólafsdóttir H, Guillen Sacoto MJ, Ayaz A, Akbeyaz IH, Türkdoğan D, Al Balushi AI, Bertoli-Avella A, Bauer P, Szenker-Ravi E, Reversade B, McWalter K, Sheridan E, Firth HV, Hurles ME, Samocha KE, Ustach VD, Martin HC

Nature genetics. Sep 2024

(DOI : 10.1038/s41588-024-01910-8)

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