JA
Publications
- Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases.
- Variants in BANK1 are associated with lupus nephritis of European ancestry.
- Evaluation of NTRK immunohistochemistry as a screening method for NTRK gene fusion detection in non-small cell lung cancer.
- Contributions of de novo variants to systemic lupus erythematosus.
- Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome.
- Long-term follow-up in primary Sjögren's syndrome reveals differences in clinical presentation between female and male patients.
- Novel risk genes for systemic lupus erythematosus predicted by random forest classification.
- Transancestral mapping and genetic load in systemic lupus erythematosus.
- Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.
- Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes.
- Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
- Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
- Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.
- Basic Tilted Helix Bundle - a new protein fold in human FKBP25/FKBP3 and HectD1.
- Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
- Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
- Transcriptome and genome sequencing uncovers functional variation in humans.
- Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.
- Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
- Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling