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Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer.
Cuenca D, Ventura-Gallegos JL, Almeda-Valdes P, Tusié-Luna MT, Reza-Albarran A, Ventura-Ayala L, Ordoñez-Sánchez ML, Segura-Kato Y, Gomez-Perez FJ, Conte MP, Gonzalez LR, Zentella-Dehesa A. Cuenca D, et al. Among authors: tusie luna mt. Mol Genet Metab Rep. 2023 Mar 13;35:100965. doi: 10.1016/j.ymgmr.2023.100965. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36941956 Free PMC article.
Mexican Biobank advances population and medical genomics of diverse ancestries.
Sohail M, Palma-Martínez MJ, Chong AY, Quinto-Cortés CD, Barberena-Jonas C, Medina-Muñoz SG, Ragsdale A, Delgado-Sánchez G, Cruz-Hervert LP, Ferreyra-Reyes L, Ferreira-Guerrero E, Mongua-Rodríguez N, Canizales-Quintero S, Jimenez-Kaufmann A, Moreno-Macías H, Aguilar-Salinas CA, Auckland K, Cortés A, Acuña-Alonzo V, Gignoux CR, Wojcik GL, Ioannidis AG, Fernández-Valverde SL, Hill AVS, Tusié-Luna MT, Mentzer AJ, Novembre J, García-García L, Moreno-Estrada A. Sohail M, et al. Among authors: tusie luna mt. Nature. 2023 Oct;622(7984):775-783. doi: 10.1038/s41586-023-06560-0. Epub 2023 Oct 11. Nature. 2023. PMID: 37821706 Free PMC article.
The role of SLC16A11 variations in diabetes mellitus.
Aguilar-Salinas CA, Tusie Luna MT. Aguilar-Salinas CA, et al. Among authors: tusie luna mt. Curr Opin Nephrol Hypertens. 2023 Sep 1;32(5):445-450. doi: 10.1097/MNH.0000000000000914. Epub 2023 Jul 6. Curr Opin Nephrol Hypertens. 2023. PMID: 37530085 Review.
A saturated map of common genetic variants associated with human height.
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina-Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar-Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot TE, Gao Y, Gao Z, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, He J, Heard-Costa N, … See abstract for full author list ➔ Yengo L, et al. Among authors: tusie luna mt. Nature. 2022 Oct;610(7933):704-712. doi: 10.1038/s41586-022-05275-y. Epub 2022 Oct 12. Nature. 2022. PMID: 36224396 Free PMC article.
Critical role of acute hypoxemia on the cognitive impairment after severe COVID-19 pneumonia: a multivariate causality model analysis.
García-Grimshaw M, Chirino-Pérez A, Flores-Silva FD, Valdés-Ferrer SI, Vargas-Martínez MLÁ, Jiménez-Ávila AI, Chávez-Martínez OA, Ramos-Galicia EM, Marché-Fernández OA, Ramírez-Carrillo MF, Grajeda-González SL, Ramírez-Jiménez ME, Chávez-Manzanera EA, Tusié-Luna MT, Ochoa-Guzmán A, Cantú-Brito C, Fernandez-Ruiz J, Chiquete E. García-Grimshaw M, et al. Among authors: tusie luna mt. Neurol Sci. 2022 Apr;43(4):2217-2229. doi: 10.1007/s10072-021-05798-8. Epub 2022 Jan 13. Neurol Sci. 2022. PMID: 35022935 Free PMC article.
Correction to: Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes.
Pan DZ, Miao Z, Comenho C, Rajkumar S, Koka A, Lee SHT, Alvarez M, Kaminska D, Ko A, Sinsheimer JS, Mohlke KL, Mancuso N, Muñoz-Hernandez LL, Herrera-Hernandez M, Tusié-Luna MT, Aguilar-Salinas C, Pietiläinen KH, Pihlajamäki J, Laakso M, Garske KM, Pajukanta P. Pan DZ, et al. Among authors: tusie luna mt. Genome Med. 2021 Aug 30;13(1):139. doi: 10.1186/s13073-021-00954-3. Genome Med. 2021. PMID: 34461981 Free PMC article. No abstract available.
Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes.
Pan DZ, Miao Z, Comenho C, Rajkumar S, Koka A, Lee SHT, Alvarez M, Kaminska D, Ko A, Sinsheimer JS, Mohlke KL, Mancuso N, Muñoz-Hernandez LL, Herrera-Hernandez M, Tusié-Luna MT, Aguilar-Salinas C, Pietiläinen KH, Pihlajamäki J, Laakso M, Garske KM, Pajukanta P. Pan DZ, et al. Among authors: tusie luna mt. Genome Med. 2021 Aug 2;13(1):123. doi: 10.1186/s13073-021-00939-2. Genome Med. 2021. PMID: 34340684 Free PMC article.
83 results