Investigation of mutations in the HBB gene using the 1,000 genomes database

A computational approach to determine susceptibility to cancer by evaluating the deleterious effect of nsSNP in XRCC1 gene on binding interaction of XRCC1 protein with ligase III

(2016) Preety Kadian Singh et al.   GENE

Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically SilentβChain Variant During Hb A1cDetermination by High Performance Liquid Chromatography

(2016) Graziano Pianezze et al.   HEMOGLOBIN

Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations

(2016) Christos Chassanidis et al.   PLoS One

The influence of host genetics on erythrocytes and malaria infection: is there therapeutic potential?

(2015) Patrick M Lelliott et al.   MALARIA JOURNAL

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

(2015) Fabrice Danjou et al.   NATURE GENETICS

Detection of Sickle Cell Hemoglobin in Haiti by Genotyping and Hemoglobin Solubility Tests

(2014) Tamar E. Carter et al.   AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE

Centromere reference models for human chromosomes X and Y satellite arrays

(2014) K. H. Miga et al.   GENOME RESEARCH

The spectrum of β-thalassemia mutations in Gaza Strip, Palestine

(2013) Mahmoud M. Sirdah et al.   BLOOD CELLS MOLECULES AND DISEASES

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The Search for Genetic Modifiers of Disease Severity in the  -Hemoglobinopathies

(2013) G. Lettre   Cold Spring Harbor Perspectives in Medicine

Genetic modifiers of sickle cell disease

(2012) Martin H. Steinberg et al.   AMERICAN JOURNAL OF HEMATOLOGY

PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees

(2012) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Haplotype Analyses of Haemoglobin C and Haemoglobin S and the Dynamics of the Evolutionary Response to Malaria in Kassena-Nankana District of Ghana

(2012) Anita Ghansah et al.   PLoS One

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Efficient correction of hemoglobinopathy-causing mutations by homologous recombination in integration-free patient iPSCs

(2011) Mo Li et al.   CELL RESEARCH

Molecular Basis of β-Thalassemia in Karnataka, India

(2011) Gururaj D. Kulkarni et al.   Genetic Testing and Molecular Biomarkers

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Genetic Etiologies for Phenotypic Diversity in Sickle Cell Anemia

(2011) Martin H. Steinberg   TheScientificWorldJOURNAL

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols