Associated Papers
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1
TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study.
Trachtenberg BH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Zhang W et al.
Bmc Medical Genomics, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.
Ishino T et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Morín M et al.
Scientific Reports, 2020
Prevalence and clinical features of hearing loss caused by EYA4 variants.
Shinagawa J et al.
Scientific Reports, 2020
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