Associated Papers
Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes.
Munsch G et al.
Blood, 2025
Genomic Landscape of Thrombosis Recurrence Risk Across Venous Thromboembolism Subtypes.
Munsch G et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
Häuser F et al.
International Journal of Molecular Sciences, 2023
Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.
Jadhao S et al.
Blood Advances, 2022
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Jadhao S et al.
Ebiomedicine, 2022
The interactome of the N-terminus of band 3 regulates red blood cell metabolism and storage quality.
Issaian A et al.
Haematologica, 2021
Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.
Glenthøj A et al.
Ejhaem, 2021
A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.
Vandorpe DH et al.
Haematologica, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.
van Vuren A et al.
Hemasphere, 2019
Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.
Brown D et al.
Nature Communications, 2017
Siblings with severe pyruvate kinase deficiency and a complex genotype.
Christensen RD et al.
American Journal of Medical Genetics. Part A, 2016
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
Reithmeier RA et al.
Biochimica Et Biophysica Acta, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Mutational landscape of candidate genes in familial prostate cancer.
Johnson AM et al.
The Prostate, 2014
Causes of hemolysis in neonates with extreme hyperbilirubinemia.
Christensen RD et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.
Van Zwieten R et al.
American Journal of Hematology, 2013
A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.
Von Kanel T et al.
American Journal of Hematology, 2013
Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1.
Bustos SP et al.
The Biochemical Journal, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Molecular physiology and genetics of Na+-independent SLC4 anion exchangers.
Alper SL
The Journal of Experimental Biology, 2009
Structure and stability of hereditary spherocytosis mutants of the cytosolic domain of the erythrocyte anion exchanger 1 protein.
Bustos SP et al.
Biochemistry, 2006
Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.
Yenchitsomanus PT et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.
Alloisio N et al.
Blood, 1997
Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
Jarolim P et al.
Blood, 1995