Associated Papers
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J et al.
Scientific Reports, 2024
38383731 (PubMed )
Supplement: 41598_2024_54866_MOESM2_ESM.xlsx › Table_S9
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
34495297 (PubMed )
Supplement: jamacardiol-e213370-s001.pdf
Genotype-phenotype correlations in recessive titinopathies.
Savarese M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Evilä A et al.
Molecular Neurobiology, 2017
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O et al.
Neurology, 2013
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