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Page 1
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: muchmore b. Nature. 2010 Aug 5;466(7307):714-9. doi: 10.1038/nature09266. Nature. 2010. PMID: 20686566 Free PMC article.
A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus.
Prokunina-Olsson L, Muchmore B, Tang W, Pfeiffer RM, Park H, Dickensheets H, Hergott D, Porter-Gill P, Mumy A, Kohaar I, Chen S, Brand N, Tarway M, Liu L, Sheikh F, Astemborski J, Bonkovsky HL, Edlin BR, Howell CD, Morgan TR, Thomas DL, Rehermann B, Donnelly RP, O'Brien TR. Prokunina-Olsson L, et al. Among authors: muchmore b. Nat Genet. 2013 Feb;45(2):164-71. doi: 10.1038/ng.2521. Epub 2013 Jan 6. Nat Genet. 2013. PMID: 23291588 Free PMC article.
The IFN-λ4 Conundrum: When a Good Interferon Goes Bad.
Onabajo OO, Muchmore B, Prokunina-Olsson L. Onabajo OO, et al. Among authors: muchmore b. J Interferon Cytokine Res. 2019 Oct;39(10):636-641. doi: 10.1089/jir.2019.0044. Epub 2019 Jun 26. J Interferon Cytokine Res. 2019. PMID: 31241411 Free PMC article. Review.
The 19q12 bladder cancer GWAS signal: association with cyclin E function and aggressive disease.
Fu YP, Kohaar I, Moore LE, Lenz P, Figueroa JD, Tang W, Porter-Gill P, Chatterjee N, Scott-Johnson A, Garcia-Closas M, Muchmore B, Baris D, Paquin A, Ylaya K, Schwenn M, Apolo AB, Karagas MR, Tarway M, Johnson A, Mumy A, Schned A, Guedez L, Jones MA, Kida M, Hosain GM, Malats N, Kogevinas M, Tardon A, Serra C, Carrato A, Garcia-Closas R, Lloreta J, Wu X, Purdue M, Andriole GL Jr, Grubb RL 3rd, Black A, Landi MT, Caporaso NE, Vineis P, Siddiq A, Bueno-de-Mesquita HB, Trichopoulos D, Ljungberg B, Severi G, Weiderpass E, Krogh V, Dorronsoro M, Travis RC, Tjønneland A, Brennan P, Chang-Claude J, Riboli E, Prescott J, Chen C, De Vivo I, Govannucci E, Hunter D, Kraft P, Lindstrom S, Gapstur SM, Jacobs EJ, Diver WR, Albanes D, Weinstein SJ, Virtamo J, Kooperberg C, Hohensee C, Rodabough RJ, Cortessis VK, Conti DV, Gago-Dominguez M, Stern MC, Pike MC, Van Den Berg D, Yuan JM, Haiman CA, Cussenot O, Cancel-Tassin G, Roupret M, Comperat E, Porru S, Carta A, Pavanello S, Arici C, Mastrangelo G, Grossman HB, Wang Z, Deng X, Chung CC, Hutchinson A, Burdette L, Wheeler W, Fraumeni J Jr, Chanock SJ, Hewitt SM, Silverman DT, Rothman N, Prokunina-Olsson L. Fu YP, et al. Among authors: muchmore b. Cancer Res. 2014 Oct 15;74(20):5808-18. doi: 10.1158/0008-5472.CAN-14-1531. Cancer Res. 2014. PMID: 25320178 Free PMC article.
IL28B rs12979860 genotype and spontaneous clearance of hepatitis C virus in a multi-ethnic cohort of injection drug users: evidence for a supra-additive association.
Shebl FM, Pfeiffer RM, Buckett D, Muchmore B, Chen S, Dotrang M, Prokunina-Olsson L, Edlin BR, O'Brien TR. Shebl FM, et al. Among authors: muchmore b. J Infect Dis. 2011 Dec 15;204(12):1843-7. doi: 10.1093/infdis/jir647. Epub 2011 Oct 19. J Infect Dis. 2011. PMID: 22013224 Free PMC article.
Common genetic variants in the PSCA gene influence gene expression and bladder cancer risk.
Fu YP, Kohaar I, Rothman N, Earl J, Figueroa JD, Ye Y, Malats N, Tang W, Liu L, Garcia-Closas M, Muchmore B, Chatterjee N, Tarway M, Kogevinas M, Porter-Gill P, Baris D, Mumy A, Albanes D, Purdue MP, Hutchinson A, Carrato A, Tardón A, Serra C, García-Closas R, Lloreta J, Johnson A, Schwenn M, Karagas MR, Schned A, Diver WR, Gapstur SM, Thun MJ, Virtamo J, Chanock SJ, Fraumeni JF Jr, Silverman DT, Wu X, Real FX, Prokunina-Olsson L. Fu YP, et al. Among authors: muchmore b. Proc Natl Acad Sci U S A. 2012 Mar 27;109(13):4974-9. doi: 10.1073/pnas.1202189109. Epub 2012 Mar 13. Proc Natl Acad Sci U S A. 2012. PMID: 22416122 Free PMC article.
A new molecular classification to drive precision treatment strategies in primary Sjögren's syndrome.
Soret P, Le Dantec C, Desvaux E, Foulquier N, Chassagnol B, Hubert S, Jamin C, Barturen G, Desachy G, Devauchelle-Pensec V, Boudjeniba C, Cornec D, Saraux A, Jousse-Joulin S, Barbarroja N, Rodríguez-Pintó I, De Langhe E, Beretta L, Chizzolini C, Kovács L, Witte T; PRECISESADS Clinical Consortium; PRECISESADS Flow Cytometry Consortium; Bettacchioli E, Buttgereit A, Makowska Z, Lesche R, Borghi MO, Martin J, Courtade-Gaiani S, Xuereb L, Guedj M, Moingeon P, Alarcón-Riquelme ME, Laigle L, Pers JO. Soret P, et al. Nat Commun. 2021 Jun 10;12(1):3523. doi: 10.1038/s41467-021-23472-7. Nat Commun. 2021. PMID: 34112769 Free PMC article.
Genomic Risk Score impact on susceptibility to systemic sclerosis.
Bossini-Castillo L, Villanueva-Martin G, Kerick M, Acosta-Herrera M, López-Isac E, Simeón CP, Ortego-Centeno N, Assassi S; International SSc Group; Australian Scleroderma Interest Group (ASIG); PRECISESADS Clinical Consortium; PRECISESADS Flow Cytometry study group; Hunzelmann N, Gabrielli A, de Vries-Bouwstra JK, Allanore Y, Fonseca C, Denton CP, Radstake TR, Alarcón-Riquelme ME, Beretta L, Mayes MD, Martin J. Bossini-Castillo L, et al. Ann Rheum Dis. 2021 Jan;80(1):118-127. doi: 10.1136/annrheumdis-2020-218558. Epub 2020 Oct 1. Ann Rheum Dis. 2021. PMID: 33004331 Free article.
Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature.
Teruel M, Barturen G, Martínez-Bueno M, Castellini-Pérez O, Barroso-Gil M, Povedano E, Kerick M, Català-Moll F, Makowska Z, Buttgereit A; PRECISESADS Clinical Consortium; PRECISESADS Flow Cytometry Study Group; Pers JO, Marañón C, Ballestar E, Martin J, Carnero-Montoro E, Alarcón-Riquelme ME. Teruel M, et al. Sci Rep. 2021 Dec 2;11(1):23292. doi: 10.1038/s41598-021-01324-0. Sci Rep. 2021. PMID: 34857786 Free PMC article.
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