Associated Papers
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
Song S et al.
Heart Failure Reviews, 2022
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F et al.
Plos One, 2022
35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS et al.
Nature Communications, 2019
31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
Jarmula A et al.
Scientific Reports, 2019
31395899 (PubMed )
Supplement: 41598_2019_47849_MOESM1_ESM.pdf
[Genotype-phenotype correlations of pathogenic variants in the FLNC gene].
Ader F et al.
Medecine Sciences : M/s, 2018
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J et al.
Circulation. Cardiovascular Genetics, 2017
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
Nolan D et al.
Journal of Child Neurology, 2016
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
Janssens J et al.
Acta Neuropathologica Communications, 2015
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL et al.
Orphanet Journal of Rare Diseases, 2014
25208129 (PubMed )
Supplement: s13023-014-0121-9-S1.pdf
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