Characterisation of a Portuguese origin founder missense variant in MSH6
Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, et al. How should we test…
Non-coding DNA dynamics and its roles as a physical barrier in genome safeguarding across early development and evolution
Aburomia R, Khaner O, Sidow A (2003) Functional evolution in the ancestral lineage of vertebrates or when genomic…
How parents decide whether to have genomic newborn screening: experiences from BabyScreen+
ParticipantsParticipation in BabyScreen+ and gNBS A total of 1139 participants consented to BabyScreen+ research, regardless of whether they…
A multi-dimensional framework for establishing and managing a genomic newborn screening program
The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1)…
Twenty years of genome-wide association studies: Health translation challenges and AI opportunities
Southam L, Zeggini E. Twenty years of genome-wide association studies. Nature. 2025;641:47–9. Article PubMed CAS Google Scholar Klein…