Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
An Expression Quantitative Trait Locus of Fc Gamma Receptor Genes Is Associated With Antimalarial IgG Responses and Infection Levels in Burkinabe Families.
Dieppois C et al.
The Journal of Infectious Diseases, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Pharmacogenomic landscape of TNF inhibitors in the Middle Eastern Qatari population.
Jan Z et al.
Frontiers in Immunology, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
Kim JJ et al.
Nature Genetics, 2024
Genetic Predisposition to Vaccine-Induced Immune Thrombotic Thrombocytopenia: is there a Family Link?
Pombal R et al.
European Journal of Case Reports in Internal Medicine, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
Liu Z et al.
Nature Genetics, 2023
Systematic identification of genomic elements that regulate FCGR2A expression and harbor variants linked with autoimmune disease.
Dahlqvist J et al.
Human Molecular Genetics, 2022
Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine.
Abbas T et al.
Journal of Personalized Medicine, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.
Hoggart C et al.
European Journal of Human Genetics : Ejhg, 2021
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.
Stein A et al.
Journal for Immunotherapy of Cancer, 2021
Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.
Akhtar M et al.
Biology, 2021
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.
Schnappauf O et al.
Pediatric Rheumatology Online Journal, 2021
FcRn is a CD32a coreceptor that determines susceptibility to IgG immune complex-driven autoimmunity.
Hubbard JJ et al.
The Journal of Experimental Medicine, 2020
Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.
Lundtoft C et al.
Plos Genetics, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Analysis of 75 Candidate SNPs Associated With Acute Rejection in Kidney Transplant Recipients: Validation of rs2910164 in MicroRNA MIR146A.
Oetting WS et al.
Transplantation, 2019
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
Exploration of germline variants responsible for adverse events of crizotinib in anaplastic lymphoma kinase-positive non-small cell lung cancer by target-gene panel sequencing.
Mizugaki H et al.
Lung Cancer (amsterdam, Netherlands), 2019
Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A.
Sim BK et al.
Korean Circulation Journal, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
A Case-Control Study on Association of Ulcerative Colitis with FCGR2A Gene Polymorphisms in Chinese Patients.
Xia SL et al.
Genetic Testing and Molecular Biomarkers, 2018
Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
Moon CM et al.
Inflammatory Bowel Diseases, 2018
Genetics of acute rejection after kidney transplantation.
Dorr CR et al.
Transplant International : Official Journal of the European Society for Organ Transplantation, 2018
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.
Demirkaya E et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
How gene polymorphisms can influence clinical response and toxicity following R-CHOP therapy in patients with diffuse large B cell lymphoma.
Falduto A et al.
Blood Reviews, 2017
Male-specific association of the FCGR2A His167Arg polymorphism with Kawasaki disease.
Kwon YC et al.
Plos One, 2017
Variability at the FCGR locus: characterization in Black South Africans and evidence for ethnic variation in and out of Africa.
Lassaunière R et al.
Genes and Immunity, 2016
Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations.
Cocca M et al.
Journal of Translational Medicine, 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
Huang C et al.
Gastroenterology, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014