Associated Papers
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK et al.
Annals of the Rheumatic Diseases, 2021
33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf
NEK11 as a candidate high-penetrance melanoma susceptibility gene.
Christodoulou E et al.
Journal of Medical Genetics, 2020
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
31541133 (PubMed )
Supplement: 41598_2019_49935_MOESM2_ESM.pdf
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
32743495 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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
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