Associated Papers
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S et al.
Neurology, 2021
Mutational analysis of BFSP1, CRYBB1, GALK1, and GJA8 in captive-bred vervet monkeys (Chlorocebus aethiops).
Ngqaneka T et al.
Journal of Medical Primatology, 2020
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.
Peddareddygari LR et al.
Case Reports in Neurology, 0
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