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.· Clinical Epigenetics· 0 citations
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.· Clinical Genetics· 0 citations
The findings underscore the diagnostic potential of integrated long-read and multi-omic approaches for complex structural variant characterization, while illustrating persistent limitations of automated pipelines and highlighting unpredictable relationships between genomic, transcriptomic, and proteomic findings.
Ugo Sorrentino, M. Brugger, A. Saparov et al.· Movement Disorders· 0 citations
The identification of biallelic causative variants in AP4B1 established the diagnosis of monogenic “Spastic paraplegia 47, autosomal recessive” while the initial hypothesis of digenic inheritance was refuted.
Susann Badmann, A. Saparov, P. Harrer et al.· Human Mutation· 0 citations
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