Author

O. Sadeghi-Alavijeh

2 papers indexed here

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Open access Sep 2026

Whole-genome sequencing characterizes monogenic and polygenic contributions to structural kidney and urinary tract malformations.

The diagnostic yield for monogenic kidney disease was only 4.9% in this cohort, with common and low frequency variants potentially accounting for some of the missing heritability of CAKUT, although the confidence intervals were wide.

M. Chan, O. Sadeghi-Alavijeh, Seth du Preez et al. · Kidney International · 0 citations

Open access Sep 2026

Mapping intronic mutational hotspots by in silico mutagenesis enables single antisense oligonucleotide correction of multiple variants

This gene-agnostic framework establishes a systematic strategy for identifying intronic mutational hotspots and matching patients to scalable, mutation-agnostic ASO-based precision therapies.

H. Saei, B. Ardin, N. Kaiser et al. · medRxiv · 0 citations