Associated Papers
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.
Martínez-Barrios E et al.
Journal of Personalized Medicine, 2022
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
Khan A et al.
Bmc Medical Genetics, 2019
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.
Algahtani H et al.
Intractable & Rare Diseases Research, 2019
Relevance of truncating titin mutations in dilated cardiomyopathy.
Akinrinade O et al.
Clinical Genetics, 2016
26777568 (PubMed )
Supplement: supplement_1.pdf
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.
Campuzano O et al.
International Journal of Molecular Sciences, 2015
26516846 (PubMed )
Supplement: ijms-16-25773-s001.zip › ijms-94850-Supplementary_Information › Table_S1.xls › Table_S1
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
Izumi R et al.
Journal of Human Genetics, 2013
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Vasli N et al.
Acta Neuropathologica, 2012
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