Associated Papers
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.
Thorpe HJ et al.
American Journal of Human Genetics, 2025
Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.
Thorpe HJ et al.
Biorxiv : the Preprint Server for Biology, 2024
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.
Leoni G et al.
Vaccines, 2021
34452005 (PubMed )
Supplement: vaccines-09-00880-s001.zip › SupplementaryTable1.xlsx › 4069
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_late_met_1
Genetic studies in human prion diseases.
Jeong BH et al.
Journal of Korean Medical Science, 2014
A polymorphism in the YWHAH gene encoding 14-3-3 eta that is not associated with sporadic Creutzfeldt-Jakob disease (CJD).
Yun J et al.
Molecular Biology Reports, 2012
Frequent missense and insertion/deletion polymorphisms in the ovine Shadoo gene parallel species-specific variation in PrP.
Daude N et al.
Plos One, 2009
Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease.
Beck JA et al.
Journal of Medical Genetics, 2008
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