Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
Race-specific association of an IRGM risk allele with cytokine expression in human subjects.
Ajayi T et al.
Scientific Reports, 2023
In silico methods for predicting functional synonymous variants.
Lin BC et al.
Genome Biology, 2023
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y et al.
Frontiers in Genetics, 2023
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I et al.
Autophagy, 2022
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
Unique roles of rare variants in the genetics of complex diseases in humans.
Momozawa Y et al.
Journal of Human Genetics, 2021
Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.
Noel DD et al.
Bioinformatics and Biology Insights, 2021
CUBAP: an interactive web portal for analyzing codon usage biases across populations.
Hodgman MW et al.
Nucleic Acids Research, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Effects of microRNAs polymorphism in cancer progression.
SiamiGorji S et al.
Medical Journal of the Islamic Republic of Iran, 2020
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
Crohn's disease IRGM risk alleles are associated with altered gene expression in human tissues.
Ajayi TA et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.
Soussi T et al.
Human Mutation, 2017
The roles of RNA processing in translating genotype to phenotype.
Manning KS et al.
Nature Reviews. Molecular Cell Biology, 2017
The genetic background of inflammatory bowel disease: from correlation to causality.
Uniken Venema WT et al.
The Journal of Pathology, 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
A Large-Scale Analysis of the Relationship of Synonymous SNPs Changing MicroRNA Regulation with Functionality and Disease.
Wang Y et al.
International Journal of Molecular Sciences, 2015
MicroRNAs enrichment in GWAS of complex human phenotypes.
Goulart LF 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
Advances in IBD genetics.
Van Limbergen J et al.
Nature Reviews. Gastroenterology & Hepatology, 2014
Association of IRGM gene mutations with inflammatory bowel disease in the Indian population.
Baskaran K et al.
Plos One, 2014
Genetic association and functional role of Crohn disease risk alleles involved in microbial sensing, autophagy, and endoplasmic reticulum (ER) stress.
Hoefkens E et al.
Autophagy, 2013
Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the Korean population.
Moon CM et al.
Inflammatory Bowel Diseases, 2013
IRGM variants and susceptibility to inflammatory bowel disease in the German population.
Glas J et al.
Plos One, 2013
Lack of association between CD226 genetic variants and inflammatory demyelinating diseases in Korean population.
Kim JY et al.
Neuro Endocrinology Letters, 2013
Contribution of higher risk genes and European admixture to Crohn's disease in African Americans.
Wang MH et al.
Inflammatory Bowel Diseases, 2012
Risk predisposition for Crohn disease: a "ménage à trois" combining IRGM allele, miRNA and xenophagy.
Brest P et al.
Autophagy, 2011
A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease.
Brest P et al.
Nature Genetics, 2011
Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.
Intemann CD et al.
Plos Pathogens, 2009