A systematic mapping of the genomic and proteomic variation associated with monogenic diabetes
Preprint in bioRxiv (January 2023)
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A high throughput splicing assay to investigate the effect of variants of unknown significance on exon inclusion
Preprint in medRxiv (December 2022)
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Article in npj Genomic Medicine (November 2022)