Author

N. Lewis

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Open access Sep 2026

Minigene-based characterization and classification of splice-associated variants in succinate dehydrogenase B

It is demonstrated that targeted sequencing of minigene-derived transcripts provides a scalable approach to evaluate splice-associated SDHB variants and improve variant classification.

Anni Köhler, A. Baumann, N. Lewis et al. · npj Precision Oncology · 0 citations

Open access Sep 2026

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

This case report supports the relevance of facial analysis and comprehensive variant validation strategies, particularly for deep intronic variants with ambiguous in silico splicing predictions, particularly for deep intronic variants with ambiguous in silico splicing predictions.

Z. Kowalzyk, J. Porrmann, P. Au et al. · Journal of Human Genetics · 0 citations