Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.
Castano-Jaramillo LM et al.
Journal of Genetics, 2023
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 2022
35449878 (PubMed )
Supplement: Data_Sheet_1.PDF
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
30402260 (PubMed )
Supplement: openhrt-2018-000915supp002.xlsx › gnomad_ENSG00000160789_2017_12_
Select a paper to view details