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Items: 11

1.

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, Kwak SH, Laakso M, Lehman DM, Nilsson P, Spector TD, Tai ES, Tuomi T, Tuomilehto J, Wilson JG, Aguilar-Salinas CA, Bottinger E, Burke B, Carey DJ, Chan JCN, Dupuis J, Frossard P, Heckbert SR, Hwang MY, Kim YJ, Kirchner HL, Lee JY, Lee J, Loos RJF, Ma RCW, Morris AD, O'Donnell CJ, Palmer CNA, Pankow J, Park KS, Rasheed A, Saleheen D, Sim X, Small KS, Teo YY, Haiman C, Hanis CL, Henderson BE, Orozco L, Tusié-Luna T, Dewey FE, Baras A, Gieger C, Meitinger T, Strauch K, Lange L, Grarup N, Hansen T, Pedersen O, Zeitler P, Dabelea D, Abecasis G, Bell GI, Cox NJ, Seielstad M, Sladek R, Meigs JB, Rich SS, Rotter JI; DiscovEHR Collaboration; CHARGE; LuCamp; ProDiGY; GoT2D; ESP; SIGMA-T2D; T2D-GENES; AMP-T2D-GENES, Altshuler D, Burtt NP, Scott LJ, Morris AP, Florez JC, McCarthy MI, Boehnke M.

Nature. 2019 Jun;570(7759):71-76. doi: 10.1038/s41586-019-1231-2. Epub 2019 May 22.

2.

Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.

Martínez-Hernández A, Larrosa J, Barajas-Olmos F, García-Ortíz H, Mendoza-Caamal EC, Contreras-Cubas C, Mirzaeicheshmeh E, Lezana JL, Orozco L.

BMC Med Genomics. 2019 May 22;12(1):68. doi: 10.1186/s12920-019-0528-1.

3.

Gene variants in AKT1, GCKR and SOCS3 are differentially associated with metabolic traits in Mexican Amerindians and Mestizos.

Cid-Soto MA, Martínez-Hernández A, García-Ortíz H, Córdova EJ, Barajas-Olmos F, Centeno-Cruz F, Contreras-Cubas C, Mendoza-Caamal EC, Ciceron-Arellano I, Morales-Rivera MI, Jimenez-Ruiz JL, Salas-Martínez G, Saldaña-Álvarez Y, Revilla-Monsalve C, Islas-Andrade S, Orozco L.

Gene. 2018 Dec 30;679:160-171. doi: 10.1016/j.gene.2018.08.076. Epub 2018 Aug 31.

PMID:
30176313
4.

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.

Sci Rep. 2018 Feb 19;8(1):3252. doi: 10.1038/s41598-018-21663-9.

5.

Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution.

Murillo-Melo NM, Márquez-Quiróz LC, Gómez R, Orozco L, Mendoza-Caamal E, Tapia-Guerrero YS, Camacho-Mejorado R, Cortés H, López-Reyes A, Santana C, Noris G, Hernández-Hernández O, Cisneros B, Magaña JJ.

Neuromuscul Disord. 2017 Dec;27(12):1106-1114. doi: 10.1016/j.nmd.2017.09.004. Epub 2017 Sep 21.

PMID:
29054426
6.

A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes.

Mercader JM, Liao RG, Bell AD, Dymek Z, Estrada K, Tukiainen T, Huerta-Chagoya A, Moreno-Macías H, Jablonski KA, Hanson RL, Walford GA, Moran I, Chen L, Agarwala V, Ordoñez-Sánchez ML, Rodríguez-Guillen R, Rodríguez-Torres M, Segura-Kato Y, García-Ortiz H, Centeno-Cruz F, Barajas-Olmos F, Caulkins L, Puppala S, Fontanillas P, Williams AL, Bonàs-Guarch S, Hartl C, Ripke S; Diabetes Prevention Program Research Group, Tooley K, Lane J, Zerrweck C, Martínez-Hernández A, Córdova EJ, Mendoza-Caamal E, Contreras-Cubas C, González-Villalpando ME, Cruz-Bautista I, Muñoz-Hernández L, Gómez-Velasco D, Alvirde U, Henderson BE, Wilkens LR, Le Marchand L, Arellano-Campos O, Riba L, Harden M; Broad Genomics Platform, Gabriel S; T2D-GENES Consortium, Abboud HE, Cortes ML, Revilla-Monsalve C, Islas-Andrade S, Soberon X, Curran JE, Jenkinson CP, DeFronzo RA, Lehman DM, Hanis CL, Bell GI, Boehnke M, Blangero J, Duggirala R, Saxena R, MacArthur D, Ferrer J, McCarroll SA, Torrents D, Knowler WC, Baier LJ, Burtt N, González-Villalpando C, Haiman CA, Aguilar-Salinas CA, Tusié-Luna T, Flannick J, Jacobs SBR, Orozco L, Altshuler D, Florez JC; SIGMA T2D Genetics Consortium.

Diabetes. 2017 Nov;66(11):2903-2914. doi: 10.2337/db17-0187. Epub 2017 Aug 24.

7.

Correction: ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD.

J Exp Med. 2017 Apr 3;214(4):1201. doi: 10.1084/jem.2016143503082017c. Epub 2017 Mar 13. No abstract available.

8.

ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD.

J Exp Med. 2017 Mar 6;214(3):669-680. doi: 10.1084/jem.20161435. Epub 2017 Jan 26. Erratum in: J Exp Med. 2017 Apr 3;214(4):1201.

9.

Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico.

Contreras-Cubas C, Sánchez-Hernández BE, García-Ortiz H, Martínez-Hernández A, Barajas-Olmos F, Cid M, Mendoza-Caamal EC, Centeno-Cruz F, Ortiz-Cruz G, Jiménez-López JC, Córdova EJ, Salas-Bautista EG, Saldaña-Alvarez Y, Fernández-López JC, Mutchinick OM, Orozco L.

PLoS One. 2016 Sep 20;11(9):e0163248. doi: 10.1371/journal.pone.0163248. eCollection 2016.

10.

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.

JAMA. 2014 Jun 11;311(22):2305-14. doi: 10.1001/jama.2014.6511. Erratum in: JAMA. 2014 Nov 12:312(18):1932. Jiménez-Morales, Silvia[Added].

11.

[Birth defects associated with increased nuchal translucency].

Mendoza-Caamal EC, Grether-González P, Hernández-Gómez M, Guzmán-Huerta M, Aguinaga-Ríos M.

Ginecol Obstet Mex. 2010 Oct;78(10):533-9. Spanish.

PMID:
21966770

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