Associated Papers
Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.
Reeve MP et al.
Nature Genetics, 2026
Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.
Gueuning M et al.
Blood Advances, 2026
Human and bacterial genetic variation shape oral microbiomes and health.
Kamitaki N et al.
Nature, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
Starosta RT et al.
Molecular Genetics and Metabolism, 2026
Non-HLA risk variants in a type 1 diabetes pediatric population: Clinical and autoimmune profiles.
Díez Blanco M et al.
Anales De Pediatria, 2026
Complex genetic effects linked to plasma protein abundance in the UK Biobank.
Sigurdsson AI et al.
Nature Communications, 2025
Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?
Modi R et al.
Current Gastroenterology Reports, 2025
Human and bacterial genetic variation shape oral microbiomes and health.
Kamitaki N et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N et al.
Nature Communications, 2025
Polymorphic pseudogenes in the human genome - a comprehensive assessment.
Lopes-Marques M et al.
Human Genetics, 2024
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S et al.
Nature Communications, 2024
Characterization of Blood Group Variants in an Omani Population by Comparison of Whole Genome Sequencing and Serology.
Haffener PE et al.
Biorxiv : the Preprint Server for Biology, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Integration of risk variants from GWAS with SARS-CoV-2 RNA interactome prioritizes FUBP1 and RAB2A as risk genes for COVID-19.
Shi W et al.
Scientific Reports, 2023
Decreased fucosylation impacts epithelial integrity and increases risk for COPD.
Swaby C et al.
Biorxiv : the Preprint Server for Biology, 2023
A novel allele of FUT2 gene containing a deletion of nine bases (c.461_469delGGACCTTCT) in a Chinese Han blood donor.
Zhou S et al.
Vox Sanguinis, 2023
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Plasma proteomic associations with genetics and health in the UK Biobank.
Sun BB et al.
Nature, 2023
Complex effects of sequence variants on lipid levels and coronary artery disease.
Snaebjarnarson AS et al.
Cell, 2023
Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran.
Shahriyari F et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2023
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
Liu Z et al.
Nature Genetics, 2023
ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies.
Jajosky RP et al.
Iscience, 2023
Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.
Jadhao S et al.
Blood Advances, 2022
The genomic landscape of blood groups in Indigenous Australians in remote communities.
Jadhao S et al.
Transfusion, 2022
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Jadhao S et al.
Ebiomedicine, 2022
Prioritising positively selected variants in whole-genome sequencing data using FineMAV.
Wahyudi F et al.
Bmc Bioinformatics, 2021
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Frank DN et al.
Journal of Medical Genetics, 2021
De-coding genetic risk variants in type 1 diabetes.
Shapiro MR et al.
Immunology and Cell Biology, 2021
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.
Bell S et al.
Communications Biology, 2021
The FUT2 Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media.
Elling CL et al.
Frontiers in Cellular and Infection Microbiology, 2021
Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk.
Sieh W et al.
Nature Communications, 2020