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32 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.
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.
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.
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.
Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.
Mendoza-Caamal EC, Barajas-Olmos F, Mirzaeicheshmeh E, Ilizaliturri-Flores I, Aguilar-Salinas CA, Gómez-Velasco DV, Cicerón-Arellano I, Reséndiz-Rodríguez A, Martínez-Hernández A, Contreras-Cubas C, Islas-Andrade S, Zerrweck C, García-Ortiz H, Orozco L. Mendoza-Caamal EC, et al. Orphanet J Rare Dis. 2021 Jun 30;16(1):291. doi: 10.1186/s13023-021-01924-z. Orphanet J Rare Dis. 2021. PMID: 34193236 Free PMC article.
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: mendoza caamal e. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. Nat Commun. 2021. PMID: 34108472 Free PMC article.
Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome.
Melendez-Zajgla J, Mercado-Celis GE, Gaytan-Cervantes J, Torres A, Gabiño NB, Zapata-Tarres M, Juarez-Villegas LE, Lezama P, Maldonado V, Ruiz-Monroy K, Mendoza-Caamal E. Melendez-Zajgla J, et al. Among authors: mendoza caamal e. Sci Rep. 2018 Feb 19;8(1):3252. doi: 10.1038/s41598-018-21663-9. Sci Rep. 2018. PMID: 29459759 Free PMC article.
Genetic Distribution of Five Spinocerebellar Ataxia Microsatellite Loci in Mexican Native American Populations and Its Impact on Contemporary Mestizo Populations.
Gómez R, Tapia-Guerrero YS, Cisneros B, Orozco L, Cerecedo-Zapata C, Mendoza-Caamal E, Leyva-Gómez G, Leyva-García N, Velázquez-Pérez L, Magaña JJ. Gómez R, et al. Among authors: mendoza caamal e. Genes (Basel). 2022 Jan 16;13(1):157. doi: 10.3390/genes13010157. Genes (Basel). 2022. PMID: 35052497 Free PMC article.
32 results