Associated Papers
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.
Melamed D et al.
Genome Research, 2022
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.
Mountjoy E et al.
Nature Genetics, 2021
34711957 (PubMed )
Supplement: EMS133265-supplement-Supplementary_Tables.xlsx › 2-Approved_therapy_genes
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.
Alvarez-Dominguez JR et al.
The Journal of Biological Chemistry, 2013
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