Author

H. Reutter

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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

Review Open access Aug 2026

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects

This work proposes FAM222B as a novel candidate gene for cardiovascular laterality defects, described as a substrate of Nemo-like kinase (NLK), associated with left–right body axis determination in zebrafish homologues, fam222ba/bb, and fam222aa.

Nina Reitz, J. Lambertz, Öznur Yılmaz et al. · Scientific Reports · 0 citations