Associated Papers
Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.
Wang Q et al.
Genes & Genomics, 2025
Case Report: genotype-phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction.
Liu J et al.
Frontiers in Genetics, 2025
41555926 (PubMed )
Supplement: Table1.docx
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Tosco-Herrera E et al.
Human Mutation, 2022
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
Gerlevik U et al.
Plos One, 2022
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Billon C et al.
Orphanet Journal of Rare Diseases, 2021
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
Cannaerts E et al.
Bmc Medical Genetics, 2018
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Jenkins ZA et al.
Human Mutation, 2018
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Oegema R et al.
American Journal of Medical Genetics. Part A, 2013
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Reinstein E et al.
European Journal of Human Genetics : Ejhg, 2013
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