Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the
presence of consensus “cis” sequences that define exon-intron boundaries and regulatory …

Splice site selection is fundamental to pre-mRNA splicing and the expansion of genomic
coding potential. 5′ Splice sites (5′ ss) are the critical elements at the 5′ end of introns …

Assessing the impact of variants of unknown significance (VUS) on splicing is a key issue in
molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation …

Hereditary disorders are frequently caused by genetic variants that affect pre‐messenger
RNA splicing. Though genetic variants in the canonical splice motifs are almost always …

Antisense-mediated modulation of splicing is one of the few fields where antisense
oligonucleotides (AONs) have been able to live up to their expectations. In this approach …

ABSTRACT Neurofibromatosis type 1 (NF 1) affects about one in 3,500 people in all ethnic
groups. Most NF 1 patients have private loss‐of‐function mutations scattered along the NF 1 …

Modeling splicing is essential for tackling the challenge of variant interpretation as each
nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via …

Variant interpretation is the key issue in molecular diagnosis. Spliceogenic variants
exemplify this issue as each nucleotide variant can be deleterious via disruption or creation …

Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1
gene. Detecting mutation in NF1 is hindered by the gene's large size, the lack of mutation …

Neurofibromas are benign tumors of peripheral nerve that occur sporadically or in patients
with the autosomal dominant tumor predisposition syndrome neurofibromatosis type 1 …