Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Clinical Implications of Discrepancy between One-Stage Clotting and Chromogenic Factor IX Activity in Hemophilia B.
Schmidt DE et al.
Thrombosis and Haemostasis, 2024
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases.
Davyt M et al.
The Journal of Biological Chemistry, 2023
In silico methods for predicting functional synonymous variants.
Lin BC et al.
Genome Biology, 2023
Multiple mechanisms contribute to the phenotypic effects of synonymous variants.
Katneni U et al.
Human Mutation, 2022
Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression.
Zhang H et al.
Human Mutation, 2022
The Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G et al.
International Journal of Molecular Sciences, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
Assessing cell-specific effects of genetic variations using tRNA microarrays.
Polte C et al.
Bmc Genomics, 2019
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.
Manderstedt E et al.
Plos One, 2019
Discrepancies between the one-stage clotting assay and the chromogenic assay in haemophilia B.
Kihlberg K et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.
Simhadri VL et al.
Journal of Medical Genetics, 2017
Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC
Journal of Thrombosis and Haemostasis : Jth, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.
Hampshire DJ et al.
Haematologica, 2011