Publications

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.

Wootton O et al.

Genome Medicine Oct 2025 DOI: https://doi.org/10.1186/s13073-025-01560-3

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.

Chang L

European Journal of Human Genetics Oct 2025 DOI: https://doi.org/10.1038/s41431-025-01964-0

Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome.

Babai A

NPJ Genomic Medicine Oct 2025 DOI: https://doi.org/10.1038/s41525-025-00513-4

Landscape of parental postzygotic mutations in >11,000 rare disease trios

Garcia-Salinas OI

medRxiv Oct 2025 DOI: https://doi.org/10.1101/2025.10.17.25337713

Clinical potential of whole-genome data linked to mortality statistics in patients with breast cancer in the UK: a retrospective analysis

Daniella Black etal

The Lancet Oncology Oct 2025 DOI: https://doi.org/10.1016/s1470-2045(25)00400-0

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