Author

Richard A. Gibbs

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Open access Sep 2026

Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis

Rare diseases often remain unsolved because causal genetic changes can be complex and thus missed by standard sequencing or difficult to prioritize. Long-read sequencing can reveal structural variants, repeat expansions, DNA methylation and inherited haplotypes, but trio sequencing of an affected child and both paren...

Yilei Fu, A. English, L. Paulin et al. · Nature Communications · 0 citations

Open access Jul 2026

Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families

The clinical spectrum of TUBB2B-related tubulinopathies is expanded, phenotypic heterogeneity is illustrated, and insights into disease mechanisms including effects at polyamination sites and rare recessive inheritance are provided, underscoring the need for nuanced genotype-phenotype interpretation in diagnostic and c...

Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad et al. · HGG advances · 0 citations