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
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Inherited Hypertrabeculation? Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left Ventricular Excessive Trabeculation Patients.
Mester B et al.
Life (basel, Switzerland), 2025
40003559 (PubMed )
Supplement: life-15-00150-s001.zip › Supplementary_Material_S1.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
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_
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