V. Chundru

Optimising diagnostic yield in highly penetrant genomic disease

M. Hurles, P. Danecek, K. Samocha, 2022, medRxiv.

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

Klaudia Walter, M. Hurles, P. Danecek, 2023, medRxiv.

Multi-ancestry GWAS of major depression aids locus discovery, fine-mapping, gene prioritisation, and causal inference

Dan J Stein, N. Wray, R. Kessler, 2022, bioRxiv.

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

Firth, M. Hurles, K. Samocha, 2023, medRxiv.