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Page 1
ORE identifies extreme expression effects enriched for rare variants.
Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, Seidman CE, Schadt EE, Gelb BD. Richter F, et al. Among authors: sharp aj. Bioinformatics. 2019 Oct 15;35(20):3906-3912. doi: 10.1093/bioinformatics/btz202. Bioinformatics. 2019. PMID: 30903145 Free PMC article.
Effect of copy number variants on outcomes for infants with single ventricle heart defects.
Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD. Carey AS, et al. Among authors: sharp aj. Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10. Circ Cardiovasc Genet. 2013. PMID: 24021551 Free PMC article. Clinical Trial.
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman CE, Gelb BD, Seidman JG. McKean DM, et al. Among authors: sharp aj. Nat Commun. 2016 Sep 27;7:12824. doi: 10.1038/ncomms12824. Nat Commun. 2016. PMID: 27670201 Free PMC article.
Integrative transcriptomic analysis reveals key drivers of acute peanut allergic reactions.
Watson CT, Cohain AT, Griffin RS, Chun Y, Grishin A, Hacyznska H, Hoffman GE, Beckmann ND, Shah H, Dawson P, Henning A, Wood R, Burks AW, Jones SM, Leung DYM, Sicherer S, Sampson HA, Sharp AJ, Schadt EE, Bunyavanich S. Watson CT, et al. Among authors: sharp aj. Nat Commun. 2017 Dec 5;8(1):1943. doi: 10.1038/s41467-017-02188-7. Nat Commun. 2017. PMID: 29203772 Free PMC article.
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp AJ. Manheimer KB, et al. Among authors: sharp aj. Hum Mutat. 2018 Jun;39(6):870-881. doi: 10.1002/humu.23419. Epub 2018 Mar 22. Hum Mutat. 2018. PMID: 29527824 Free PMC article.
Identification of rare de novo epigenetic variations in congenital disorders.
Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, Kleefstra T, Grice DE, Edelmann L, Soares G, Maciel P, Brunner HG, Buxbaum JD, Gelb BD, Sharp AJ. Barbosa M, et al. Among authors: sharp aj. Nat Commun. 2018 May 25;9(1):2064. doi: 10.1038/s41467-018-04540-x. Nat Commun. 2018. PMID: 29802345 Free PMC article.
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD, Sharp AJ. Martin-Trujillo A, et al. Among authors: sharp aj. PLoS Genet. 2020 Nov 20;16(11):e1009189. doi: 10.1371/journal.pgen.1009189. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33216750 Free PMC article.
139 results