Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

S. Eck

h-index 17 View on Semantic Scholar

We have 2 of 40 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Sep 2026

Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia

Diagnosis of KMT2B-related dystonia remains challenging due to the high prevalence of variants of uncertain significance and technological constraint of short-read pipelines. To overcome these limitations, we integrated nanopore-based long-read sequencing with a validated KMT2B-episignature classifier to perform simult...

Ugo Sorrentino, Nazanin Mirza-Schreiber, Martin Pavlov et al. · 0 citations
Open access Sep 2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

A critical region at the 3' region of NUSAP1 is delineated, where nonsense variants introduce a premature termination codon and escape NMD, which is absent from healthy controls, while frameshift variants producing C-terminal elongations appear tolerated.

Maureen Jacob, Susann Badmann, S. Bigoni et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.