Associated Papers
Germline Alterations in Patients With IBD-associated Colorectal Cancer.
Biscaglia G et al.
Inflammatory Bowel Diseases, 2022
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Horowitz JE et al.
Scientific Reports, 2021
33692434 (PubMed )
Supplement: 41598_2021_84938_MOESM2_ESM.xlsx › Table_S4
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental Immunology, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.
Hurtado-Nedelec M et al.
The Journal of Rheumatology, 2010
CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.
Lesage S et al.
American Journal of Human Genetics, 2002
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