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34 results

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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.
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, Mathias … See abstract for full author list ➔ Hindy G, et al. Among authors: mendoza caamal e. Am J Hum Genet. 2022 Jan 6;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021. Epub 2021 Dec 20. Am J Hum Genet. 2022. PMID: 34932938 Free PMC article.
IKZF1plus is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia.
Garcia-Solorio J, Núñez-Enriquez JC, Jiménez-Olivares M, Flores-Lujano J, Flores-Espino F, Molina-Garay C, Cervera A, Casique-Aguirre D, Peñaloza-Gonzalez JG, Baños-Lara MDR, García-Soto Á, Galván-Díaz CA, Olaya-Vargas A, Aguilar HF, Mata-Rocha M, Garrido-Hernández MÁ, Solís-Poblano JC, Luna-Silva NC, Cano-Cuapio LS, Aristil-Chery PM, Herrera-Quezada F, Carrillo-Sanchez K, Muñoz-Rivas A, Flores-Lagunes LL, Mendoza-Caamal EC, Villegas-Torres BE, González-Osnaya V, Jiménez-Hernández E, Torres-Nava JR, Martín-Trejo JA, Gutiérrez-Rivera ML, Espinosa-Elizondo RM, Merino-Pasaye LE, Pérez-Saldívar ML, Jiménez-Morales S, Curiel-Quesada E, Rosas-Vargas H, Mejía-Arangure JM, Alaez-Verson C. Garcia-Solorio J, et al. Among authors: mendoza caamal ec. Front Oncol. 2024 Apr 3;14:1337954. doi: 10.3389/fonc.2024.1337954. eCollection 2024. Front Oncol. 2024. PMID: 38634053 Free PMC article.
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.
Alonso-Luna O, Mercado-Celis GE, Melendez-Zajgla J, Barquera R, Zapata-Tarres M, Juárez-Villegas LE, Mendoza-Caamal EC, Rey-Helo E, Borges-Yañez SA. Alonso-Luna O, et al. Among authors: mendoza caamal ec. Mol Genet Genomic Med. 2024 Jan;12(1):e2332. doi: 10.1002/mgg3.2332. Epub 2023 Dec 13. Mol Genet Genomic Med. 2024. PMID: 38093606 Free PMC article.
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J, Mercader JM, Fuchsberger C, Udler MS, Mahajan A, Wessel J, Teslovich TM, Caulkins L, Koesterer R, Barajas-Olmos F, Blackwell TW, Boerwinkle E, Brody JA, Centeno-Cruz F, Chen L, Chen S, Contreras-Cubas C, Córdova E, Correa A, Cortes M, DeFronzo RA, Dolan L, Drews KL, Elliott A, Floyd JS, Gabriel S, Garay-Sevilla ME, García-Ortiz H, Gross M, Han S, Heard-Costa NL, Jackson AU, Jørgensen ME, Kang HM, Kelsey M, Kim BJ, Koistinen HA, Kuusisto J, Leader JB, Linneberg A, Liu CT, Liu J, Lyssenko V, Manning AK, Marcketta A, Malacara-Hernandez JM, Martínez-Hernández A, Matsuo K, Mayer-Davis E, Mendoza-Caamal E, Mohlke KL, Morrison AC, Ndungu A, Ng MCY, O'Dushlaine C, Payne AJ, Pihoker C; Broad Genomics Platform; Post WS, Preuss M, Psaty BM, Vasan RS, Rayner NW, Reiner AP, Revilla-Monsalve C, Robertson NR, Santoro N, Schurmann C, So WY, Soberón X, Stringham HM, Strom TM, Tam CHT, Thameem F, Tomlinson B, Torres JM, Tracy RP, van Dam RM, Vujkovic M, Wang S, Welch RP, Witte DR, Wong TY, Atzmon G, Barzilai N, Blangero J, Bonnycastle LL, Bowden DW, Chambers JC, Chan E, Cheng CY, Cho YS, Collins FS, de Vries PS, Duggirala R, Glaser B, Gonzalez C, Gonzalez ME, Groop L, Kooner JS, … See abstract for full author list ➔ Flannick J, et al. Among authors: mendoza caamal e. Nature. 2019 Jun;570(7759):71-76. doi: 10.1038/s41586-019-1231-2. Epub 2019 May 22. Nature. 2019. PMID: 31118516 Free PMC article.
Unraveling Signatures of Local Adaptation among Indigenous Groups from Mexico.
García-Ortiz H, Barajas-Olmos F, Contreras-Cubas C, Reynolds AW, Flores-Huacuja M, Snow M, Ramos-Madrigal J, Mendoza-Caamal E, Baca P, López-Escobar TA, Bolnick DA, Flores-Martínez SE, Ortiz-Lopez R, Kostic AD, Villafan-Bernal JR, Galaviz-Hernández C, Centeno-Cruz F, García-Zapién AG, Monge-Cázares T, Lazalde-Ramos BP, Loeza-Becerra F, Abrahantes-Pérez MDC, Rangel-Villalobos H, Sosa-Macías M, Rojas-Martínez A, Martínez-Hernández A, Orozco L. García-Ortiz H, et al. Among authors: mendoza caamal e. Genes (Basel). 2022 Nov 30;13(12):2251. doi: 10.3390/genes13122251. Genes (Basel). 2022. PMID: 36553518 Free PMC article.
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.
Rusu V, Hoch E, Mercader JM, Tenen DE, Gymrek M, Hartigan CR, DeRan M, von Grotthuss M, Fontanillas P, Spooner A, Guzman G, Deik AA, Pierce KA, Dennis C, Clish CB, Carr SA, Wagner BK, Schenone M, Ng MCY, Chen BH; MEDIA Consortium; SIGMA T2D Consortium; Centeno-Cruz F, Zerrweck C, Orozco L, Altshuler DM, Schreiber SL, Florez JC, Jacobs SBR, Lander ES. Rusu V, et al. Cell. 2017 Jun 29;170(1):199-212.e20. doi: 10.1016/j.cell.2017.06.011. Cell. 2017. PMID: 28666119 Free PMC article.
CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis.
Martínez-Hernández A, Mendoza-Caamal EC, Mendiola-Vidal NG, Barajas-Olmos F, Villafan-Bernal JR, Jiménez-Ruiz JL, Monge-Cazares T, García-Ortiz H, Cubas CC, Centeno-Cruz F, Alaez-Verson C, Ortega-Torres S, Luna-Castañeda ADC, Baca V, Lezana JL, Orozco L. Martínez-Hernández A, et al. Among authors: mendoza caamal ec. Heliyon. 2024 Mar 29;10(7):e28984. doi: 10.1016/j.heliyon.2024.e28984. eCollection 2024 Apr 15. Heliyon. 2024. PMID: 38601560 Free PMC article.
The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas.
García-Ortiz H, Barajas-Olmos F, Contreras-Cubas C, Cid-Soto MÁ, Córdova EJ, Centeno-Cruz F, Mendoza-Caamal E, Cicerón-Arellano I, Flores-Huacuja M, Baca P, Bolnick DA, Snow M, Flores-Martínez SE, Ortiz-Lopez R, Reynolds AW, Blanchet A, Morales-Marín M, Velázquez-Cruz R, Kostic AD, Galaviz-Hernández C, García-Zapién AG, Jiménez-López JC, León-Reyes G, Salas-Bautista EG, Lazalde-Ramos BP, Jiménez-Ruíz JL, Salas-Martínez G, Ramos-Madrigal J, Mirzaeicheshmeh E, Saldaña-Alvarez Y, Del Carmen Abrahantes-Pérez M, Loeza-Becerra F, Mojica-Espinosa R, Sánchez-Quinto F, Rangel-Villalobos H, Sosa-Macías M, Sánchez-Corona J, Rojas-Martinez A, Martínez-Hernández A, Orozco L. García-Ortiz H, et al. Among authors: mendoza caamal e. Nat Commun. 2021 Oct 12;12(1):5942. doi: 10.1038/s41467-021-26188-w. Nat Commun. 2021. PMID: 34642312 Free PMC article.
34 results