Associated Papers
IFN-I Score and Rare Genetic Variants in Children with Systemic Lupus Erythematosus.
Raupov RK et al.
Biomedicines, 2024
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 2024
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
Evaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity.
Ueki M et al.
Scientific Reports, 2019
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.
Almlöf JC et al.
Human Genetics, 2019
Identification of the functional alleles of the nonsynonymous single-nucleotide polymorphisms potentially implicated in systemic lupus erythematosus in the human deoxyribonuclease I gene.
Kimura-Kataoka K et al.
Dna and Cell Biology, 2014
Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity.
Ueki M et al.
The Febs Journal, 2014
Identification and analysis of deleterious human SNPs.
Yue P et al.
Journal of Molecular Biology, 2006
Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients.
Shin HD et al.
Human Molecular Genetics, 2004
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