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RNA splicing is a primary link between genetic variation and disease.
Li YI, van de Geijn B, Raj A, Knowles DA, Petti AA, Golan D, Gilad Y, Pritchard JK. Li YI, et al. Among authors: van de geijn b. Science. 2016 Apr 29;352(6285):600-4. doi: 10.1126/science.aad9417. Epub 2016 Apr 28. Science. 2016. PMID: 27126046 Free PMC article.
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk.
Reshef YA, Finucane HK, Kelley DR, Gusev A, Kotliar D, Ulirsch JC, Hormozdiari F, Nasser J, O'Connor L, van de Geijn B, Loh PR, Grossman SR, Bhatia G, Gazal S, Palamara PF, Pinello L, Patterson N, Adams RP, Price AL. Reshef YA, et al. Among authors: van de geijn b. Nat Genet. 2018 Oct;50(10):1483-1493. doi: 10.1038/s41588-018-0196-7. Epub 2018 Sep 3. Nat Genet. 2018. PMID: 30177862 Free PMC article.
IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors.
Amariuta T, Luo Y, Gazal S, Davenport EE, van de Geijn B, Ishigaki K, Westra HJ, Teslovich N, Okada Y, Yamamoto K; RACI Consortium, GARNET Consortium; Price AL, Raychaudhuri S. Amariuta T, et al. Among authors: van de geijn b. Am J Hum Genet. 2019 May 2;104(5):879-895. doi: 10.1016/j.ajhg.2019.03.012. Epub 2019 Apr 18. Am J Hum Genet. 2019. PMID: 31006511 Free PMC article.
Genes with High Network Connectivity Are Enriched for Disease Heritability.
Kim SS, Dai C, Hormozdiari F, van de Geijn B, Gazal S, Park Y, O'Connor L, Amariuta T, Loh PR, Finucane H, Raychaudhuri S, Price AL. Kim SS, et al. Among authors: van de geijn b. Am J Hum Genet. 2019 May 2;104(5):896-913. doi: 10.1016/j.ajhg.2019.03.020. Am J Hum Genet. 2019. PMID: 31051114 Free PMC article.
17 results