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
Host control of persistent Epstein-Barr virus infection.
Schmidt A et al.
Nature, 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
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
Familial mast cell-mediated angioedema: Description of 4 families.
Sabaté-Brescó M et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis.
Ozcinar B et al.
International Journal of Molecular Sciences, 2025
Pharmacogenomic landscape of TNF inhibitors in the Middle Eastern Qatari population.
Jan Z et al.
Frontiers in Immunology, 2025
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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Functional Genetics to Understand the Etiology of Autoimmunity.
Hatano H et al.
Genes, 2023
Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms.
Mathieu S et al.
Iscience, 2022
Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency.
Shaik NA et al.
Frontiers in Molecular Biosciences, 2022
Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade.
Khan Z et al.
Nature Communications, 2021
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.
Somineni HK et al.
American Journal of Human Genetics, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.
Shaik NA et al.
Journal of Biomolecular Structure & Dynamics, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis.
Shaik NA et al.
Frontiers in Genetics, 2019
Dual Role of PTPN22 but Not NLRP3 Inflammasome Polymorphisms in Type 1 Diabetes and Celiac Disease in Children.
Smigoc Schweiger D et al.
Frontiers in Pediatrics, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Polymorphism rs2476601 in the PTPN22 gene is associated with type 1 diabetes in children from the South Region of Brazil.
Welter M et al.
Gene, 2018
Coincidence of PTPN22 c.1858CC and FCRL3 -169CC genotypes as a biomarker of preserved residual β-cell function in children with type 1 diabetes.
Pawłowicz M et al.
Pediatric Diabetes, 2017
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Huang H et al.
Nature, 2017
The genetic background of inflammatory bowel disease: from correlation to causality.
Uniken Venema WT et al.
The Journal of Pathology, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
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
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
Unraveling the genetics of complex diseases: susceptibility genes for rheumatoid arthritis and psoriasis.
Li Y et al.
Seminars in Immunology, 2009
Recent advances in the genetics of autoimmune disease.
Gregersen PK et al.
Annual Review of Immunology, 2009