Author

M. Halachev

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Open access Sep 2026

Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1

This case series examines the anatomical and functional phenotype of a variant in EFEMP1, p.Arg140Trp, and its associations with retinal degeneration.

Chloe M. Stanton, G. Ansari, Kristina Pfau et al. · JAMA ophthalmology · 0 citations

Review Open access Aug 2026

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

It is demonstrated that LRS-based SV analysis, supported by orthogonal SRS re-analysis, can resolve clinically significant SVs in families who remain unsolved after standard rare disease testing.

P. Dutta, A. Pagnamenta, Christelle Robert et al. · European Journal of Human Ge... · 0 citations