Associated Papers
Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population.
Wang J et al.
Frontiers in Genetics, 2025
40406060 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table2
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
Claes L et al.
Neuropediatrics, 2023
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Çavdarlı B et al.
Annals of Human Genetics, 2023
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Onore ME et al.
International Journal of Molecular Sciences, 2022
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