Associated Papers
The dynamics of hepcidin-ferroportin internalization and consequences of a novel ferroportin disease mutation.
Wallace DF et al.
American Journal of Hematology, 2017
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC et al.
Plos One, 2016
27490946 (PubMed )
Supplement: pone.0159609.s002.xlsx › Results_Discovery_phase_I
Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.
Granzow M et al.
Molecular and Cellular Probes, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs
SLC11A1 polymorphisms are associated with the risk of chronic obstructive pulmonary disease in a Korean population.
Kim EJ et al.
Biochemical Genetics, 2008
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