Associated Papers
Germline mutational landscape in a large cohort of Indian breast cancer.
Peter J et al.
Bmc Cancer, 2025
41327099 (PubMed )
Supplement: 12885_2025_15360_MOESM5_ESM.xlsx › Sheet1
Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.
Kolambage YD et al.
Molecular Syndromology, 2025
Multiomics Approach Reveal Novel Insights in FUS Driven Juvenile Amyotrophic Lateral Sclerosis: A Family Quartet Analysis.
Verma S et al.
Annals of Neurosciences, 2025
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.
Choi K et al.
Scientific Reports, 2025
40102521 (PubMed )
Supplement: 41598_2025_93832_MOESM1_ESM.xlsx › Assessment_of_our_criteria
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
Baudhuin LM et al.
European Journal of Human Genetics : Ejhg, 2019
De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.
Wang S et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2017
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