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
Protein-truncating variants in the 3' region of a transcript, evading mRNA degradation and giving rise to aberrant truncated proteins, are an underrecognized cause in Mendelian diseases. Here, we report two individuals with heterozygous de novo nonsense variants in the penultimate and last exon of NUSAP1, both presenti...
Maureen Jacob, Susann Badmann, S. Bigoni et al.· Clinical Genetics· 0 citations
The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.
R. Boggan, Theodora-Dafni Michalettou, Y. Ng et al.· Neurology: 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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