Associated Papers
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Wilke MVMB et al.
Orphanet Journal of Rare Diseases, 2024
38790019 (PubMed )
Supplement: 13023_2024_3213_MOESM2_ESM.pdf
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y et al.
Frontiers in Genetics, 2023
36777733 (PubMed )
Supplement: Table2.XLSX › S4-_Variants_vPANEL1_vPANEL2
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
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1
Whole Exome Sequencing of HIV-1 long-term non-progressors identifies rare variants in genes encoding innate immune sensors and signaling molecules.
Nissen SK et al.
Scientific Reports, 2018
Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.
Andreoletti G et al.
Scientific Reports, 2017
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