Associated Papers
Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.
Popp NA et al.
Nature Structural & Molecular Biology, 2025
Multiplex, multimodal mapping of variant effects in secreted proteins.
Popp NA et al.
Biorxiv : the Preprint Server for Biology, 2025
Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation.
Zhang H et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
The landscape of tolerated genetic variation in humans and primates.
Gao H et al.
Biorxiv : the Preprint Server for Biology, 2023
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
Compensatory epistasis explored by molecular dynamics simulations.
Serrano C et al.
Human Genetics, 2021
Genetic causes of haemophilia in women and girls.
Miller CH et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.
Meireles MR et al.
Human Mutation, 2019
Molecular characterization of haemophilia B patients in southern Brazil.
Meireles MR et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Mutation analysis of a cohort of US patients with hemophilia B.
Li T et al.
American Journal of Hematology, 2014
An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.
Rallapalli PM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.
Hamasaki-Katagiri N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.
Chavali S et al.
Genomics, 2009