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Page 1
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Stro… See abstract for full author list ➔ Goodrich JK, et al. Among authors: orozco l. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. Nat Commun. 2021. PMID: 34108472 Free PMC article.
NFE2L2 gene variants and susceptibility to childhood-onset asthma.
Córdova EJ, Jiménez-Morales S, Centeno F, Martinez-Hernández A, Martínez-Aguilar N, Del-Río-Navarro BE, Gómez-Vera J, Orozco L. Córdova EJ, et al. Among authors: orozco l. Rev Invest Clin. 2011 Jul-Aug;63(4):407-11. Rev Invest Clin. 2011. PMID: 22364041
Small MAF genes variants and chronic myeloid leukemia.
Martínez-Hernández A, Gutierrez-Malacatt H, Carrillo-Sánchez K, Saldaña-Alvarez Y, Rojas-Ochoa A, Crespo-Solis E, Aguayo-González A, Rosas-López A, Ayala-Sanchez JM, Aquino-Ortega X, Orozco L, Cordova EJ. Martínez-Hernández A, et al. Among authors: orozco l. Eur J Haematol. 2014 Jan;92(1):35-41. doi: 10.1111/ejh.12211. Epub 2013 Nov 13. Eur J Haematol. 2014. PMID: 24118457
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
SIGMA Type 2 Diabetes Consortium; Williams AL, Jacobs SB, Moreno-Macías H, Huerta-Chagoya A, Churchhouse C, Márquez-Luna C, García-Ortíz H, Gómez-Vázquez MJ, Burtt NP, Aguilar-Salinas CA, González-Villalpando C, Florez JC, Orozco L, Haiman CA, Tusié-Luna T, Altshuler D. SIGMA Type 2 Diabetes Consortium, et al. Among authors: orozco l. Nature. 2014 Feb 6;506(7486):97-101. doi: 10.1038/nature12828. Epub 2013 Dec 25. Nature. 2014. PMID: 24390345 Free PMC article.
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
SIGMA Type 2 Diabetes Consortium; Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, Jiménez-Morales S, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova EJ, Soberón X, González-Villalpando ME, Henderson E, Wilkens LR, Le Marchand L, Arellano-Campos O, Ordóñez-Sánchez ML, Rodríguez-Torres M, Rodríguez-Guillén R, Riba L, Najmi LA, Jacobs SB, Fennell T, Gabriel S, Fontanillas P, Hanis CL, Lehman DM, Jenkinson CP, Abboud HE, Bell GI, Cortes ML, Boehnke M, González-Villalpando C, Orozco L, Haiman CA, Tusié-Luna T, Aguilar-Salinas CA, Altshuler D, Njølstad PR, Florez JC, MacArthur DG. SIGMA Type 2 Diabetes Consortium, et al. Among authors: orozco l. JAMA. 2014 Jun 11;311(22):2305-14. doi: 10.1001/jama.2014.6511. JAMA. 2014. PMID: 24915262 Free PMC article.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB; GoT2D Consortium; NHGRI JHS/FHS Allelic Spectrum Project; SIGMA T2D Consortium; T2D-GENES Consortium; Rosen ED, Altshuler D. Majithia AR, et al. Proc Natl Acad Sci U S A. 2014 Sep 9;111(36):13127-32. doi: 10.1073/pnas.1410428111. Epub 2014 Aug 25. Proc Natl Acad Sci U S A. 2014. PMID: 25157153 Free PMC article.
Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.
Palmer ND, Goodarzi MO, Langefeld CD, Wang N, Guo X, Taylor KD, Fingerlin TE, Norris JM, Buchanan TA, Xiang AH, Haritunians T, Ziegler JT, Williams AH, Stefanovski D, Cui J, Mackay AW, Henkin LF, Bergman RN, Gao X, Gauderman J, Varma R, Hanis CL, Cox NJ, Highland HM, Below JE, Williams AL, Burtt NP, Aguilar-Salinas CA, Huerta-Chagoya A, Gonzalez-Villalpando C, Orozco L, Haiman CA, Tsai MY, Johnson WC, Yao J, Rasmussen-Torvik L, Pankow J, Snively B, Jackson RD, Liu S, Nadler JL, Kandeel F, Chen YD, Bowden DW, Rich SS, Raffel LJ, Rotter JI, Watanabe RM, Wagenknecht LE. Palmer ND, et al. Among authors: orozco l. Diabetes. 2015 May;64(5):1853-66. doi: 10.2337/db14-0732. Epub 2014 Dec 18. Diabetes. 2015. PMID: 25524916 Free PMC article.
Genomewide admixture study in Mexican Mestizos with multiple sclerosis.
Ordoñez G, Romero S, Orozco L, Pineda B, Jiménez-Morales S, Nieto A, García-Ortiz H, Sotelo J. Ordoñez G, et al. Among authors: orozco l. Clin Neurol Neurosurg. 2015 Mar;130:55-60. doi: 10.1016/j.clineuro.2014.11.026. Epub 2014 Dec 24. Clin Neurol Neurosurg. 2015. PMID: 25577161
346 results