Associated Papers
Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients.
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Genetic Testing and Molecular Biomarkers, 2026
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ et al.
Nature Genetics, 2024
Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis.
Alshomar A et al.
Nucleosides, Nucleotides & Nucleic Acids, 2024
Common host variation drives malaria parasite fitness in healthy human red cells.
Ebel ER et al.
Elife, 2021
34553687 (PubMed )
Supplement: elife-69808-fig5-data3.xlsx › Sheet1
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1
Prolonged phototherapy needed for a neonate with four mutations in genes involved in bilirubin production and metabolism.
Christensen R et al.
Journal of Neonatal-perinatal Medicine, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
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