The 364 exon TTN gene encodes titin (TTN), the largest known protein, which plays key
structural, developmental, mechanical, and regulatory roles in cardiac and skeletal muscles …

The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from
the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been …

Gene-panel and whole-exome analyses are now standard methodologies for mutation
detection in Mendelian disease. However, the diagnostic yield achieved is at best 50 …

Currently, oncology testing includes molecular studies and cytogenetic analysis to detect
genetic aberrations of clinical significance. Next-generation sequencing (NGS) allows rapid …

Importance Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The
interpretation of the numerous rare variants identified inTTNis a difficult challenge given its …

Mutations in more than 100 different genes are known to cause hereditary primary
myopathies. In patients with less distinct phenotypes several genes may have to be …

Clinical trials represent a critical avenue for new treatment development, where early
phases (I, I/II) are designed to test safety and effectiveness of new therapeutics or diagnostic …

Cochlear implantation is currently the treatment of choice for children with severe to
profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary …

Background. Most genetic disorders are caused by single nucleotide variations (SNVs) or
small insertion/deletions (indels). High throughput sequencing has broadened the catalogue …

The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and
differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially …