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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.
Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, Pirruccello JP, Muchmore B, Prokunina-Olsson L, Hall JL, Schadt EE, Morales CR, Lund-Katz S, Phillips MC, Wong J, Cantley W, Racie T, Ejebe KG, Orho-Melander M, Melander O, Koteliansky V, Fitzgerald K, Krauss RM, Cowan CA, Kathiresan S, Rader DJ. Musunuru K, et al. Among authors: hall jl. Nature. 2010 Aug 5;466(7307):714-9. doi: 10.1038/nature09266. Nature. 2010. PMID: 20686566 Free PMC article.
Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.
Tang W, Fu YP, Figueroa JD, Malats N, Garcia-Closas M, Chatterjee N, Kogevinas M, Baris D, Thun M, Hall JL, De Vivo I, Albanes D, Porter-Gill P, Purdue MP, Burdett L, Liu L, Hutchinson A, Myers T, Tardón A, Serra C, Carrato A, Garcia-Closas R, Lloreta J, Johnson A, Schwenn M, Karagas MR, Schned A, Black A, Jacobs EJ, Diver WR, Gapstur SM, Virtamo J, Hunter DJ, Fraumeni JF Jr, Chanock SJ, Silverman DT, Rothman N, Prokunina-Olsson L. Tang W, et al. Among authors: hall jl. Hum Mol Genet. 2012 Apr 15;21(8):1918-30. doi: 10.1093/hmg/ddr619. Epub 2012 Jan 6. Hum Mol Genet. 2012. PMID: 22228101 Free PMC article.
Tissue-specific alternative splicing of TCF7L2.
Prokunina-Olsson L, Welch C, Hansson O, Adhikari N, Scott LJ, Usher N, Tong M, Sprau A, Swift A, Bonnycastle LL, Erdos MR, He Z, Saxena R, Harmon B, Kotova O, Hoffman EP, Altshuler D, Groop L, Boehnke M, Collins FS, Hall JL. Prokunina-Olsson L, et al. Among authors: hall jl. Hum Mol Genet. 2009 Oct 15;18(20):3795-804. doi: 10.1093/hmg/ddp321. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602480 Free PMC article.
SH2B3 Is a Genetic Determinant of Cardiac Inflammation and Fibrosis.
Flister MJ, Hoffman MJ, Lemke A, Prisco SZ, Rudemiller N, O'Meara CC, Tsaih SW, Moreno C, Geurts AM, Lazar J, Adhikari N, Hall JL, Jacob HJ. Flister MJ, et al. Among authors: hall jl. Circ Cardiovasc Genet. 2015 Apr;8(2):294-304. doi: 10.1161/CIRCGENETICS.114.000527. Epub 2015 Jan 27. Circ Cardiovasc Genet. 2015. PMID: 25628389
Cerebrovascular Disease Knowledge Portal: An Open-Access Data Resource to Accelerate Genomic Discoveries in Stroke.
Crawford KM, Gallego-Fabrega C, Kourkoulis C, Miyares L, Marini S, Flannick J, Burtt NP, von Grotthuss M, Alexander B, Costanzo MC, Vaishnav NH, Malik R, Hall JL, Chong M, Rosand J, Falcone GJ; International Stroke Genetics Consortium. Crawford KM, et al. Among authors: hall jl. Stroke. 2018 Feb;49(2):470-475. doi: 10.1161/STROKEAHA.117.018922. Epub 2018 Jan 15. Stroke. 2018. PMID: 29335331 Free PMC article. Review. No abstract available.
Heart failure-associated changes in RNA splicing of sarcomere genes.
Kong SW, Hu YW, Ho JW, Ikeda S, Polster S, John R, Hall JL, Bisping E, Pieske B, dos Remedios CG, Pu WT. Kong SW, et al. Among authors: hall jl. Circ Cardiovasc Genet. 2010 Apr;3(2):138-46. doi: 10.1161/CIRCGENETICS.109.904698. Epub 2010 Feb 2. Circ Cardiovasc Genet. 2010. PMID: 20124440 Free PMC article.
456 results