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Page 1
The impact of non-additive genetic associations on age-related complex diseases.
Guindo-Martínez M, Amela R, Bonàs-Guarch S, Puiggròs M, Salvoro C, Miguel-Escalada I, Carey CE, Cole JB, Rüeger S, Atkinson E, Leong A, Sanchez F, Ramon-Cortes C, Ejarque J, Palmer DS, Kurki M; FinnGen Consortium; Aragam K, Florez JC, Badia RM, Mercader JM, Torrents D. Guindo-Martínez M, et al. Among authors: mercader jm. Nat Commun. 2021 Apr 23;12(1):2436. doi: 10.1038/s41467-021-21952-4. Nat Commun. 2021. PMID: 33893285 Free PMC article.
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
Bonàs-Guarch S, Guindo-Martínez M, Miguel-Escalada I, Grarup N, Sebastian D, Rodriguez-Fos E, Sánchez F, Planas-Fèlix M, Cortes-Sánchez P, González S, Timshel P, Pers TH, Morgan CC, Moran I, Atla G, González JR, Puiggros M, Martí J, Andersson EA, Díaz C, Badia RM, Udler M, Leong A, Kaur V, Flannick J, Jørgensen T, Linneberg A, Jørgensen ME, Witte DR, Christensen C, Brandslund I, Appel EV, Scott RA, Luan J, Langenberg C, Wareham NJ, Pedersen O, Zorzano A, Florez JC, Hansen T, Ferrer J, Mercader JM, Torrents D. Bonàs-Guarch S, et al. Among authors: mercader jm. Nat Commun. 2018 Jan 22;9(1):321. doi: 10.1038/s41467-017-02380-9. Nat Commun. 2018. PMID: 29358691 Free PMC article.
Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes.
O'Connor MJ, Schroeder P, Huerta-Chagoya A, Cortés-Sánchez P, Bonàs-Guarch S, Guindo-Martínez M, Cole JB, Kaur V, Torrents D, Veerapen K, Grarup N, Kurki M, Rundsten CF, Pedersen O, Brandslund I, Linneberg A, Hansen T, Leong A, Florez JC, Mercader JM. O'Connor MJ, et al. Among authors: mercader jm. Diabetes. 2022 Mar 1;71(3):554-565. doi: 10.2337/db21-0545. Diabetes. 2022. PMID: 34862199 Free PMC article.
Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
Bonàs-Guarch S, Guindo-Martínez M, Miguel-Escalada I, Grarup N, Sebastian D, Rodriguez-Fos E, Sánchez F, Planas-Fèlix M, Cortes-Sánchez P, González S, Timshel P, Pers TH, Morgan CC, Moran I, Atla G, González JR, Puiggros M, Martí J, Andersson EA, Díaz C, Badia RM, Udler M, Leong A, Kaur V, Flannick J, Jørgensen T, Linneberg A, Jørgensen ME, Witte DR, Christensen C, Brandslund I, Appel EV, Scott RA, Luan J, Langenberg C, Wareham NJ, Pedersen O, Zorzano A, Florez JC, Hansen T, Ferrer J, Mercader JM, Torrents D. Bonàs-Guarch S, et al. Among authors: mercader jm. Nat Commun. 2018 May 30;9(1):2162. doi: 10.1038/s41467-018-04170-3. Nat Commun. 2018. PMID: 29849136 Free PMC article.
Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.
Waage J, Standl M, Curtin JA, Jessen LE, Thorsen J, Tian C, Schoettler N; 23andMe Research Team; AAGC collaborators; Flores C, Abdellaoui A, Ahluwalia TS, Alves AC, Amaral AFS, Antó JM, Arnold A, Barreto-Luis A, Baurecht H, van Beijsterveldt CEM, Bleecker ER, Bonàs-Guarch S, Boomsma DI, Brix S, Bunyavanich S, Burchard EG, Chen Z, Curjuric I, Custovic A, den Dekker HT, Dharmage SC, Dmitrieva J, Duijts L, Ege MJ, Gauderman WJ, Georges M, Gieger C, Gilliland F, Granell R, Gui H, Hansen T, Heinrich J, Henderson J, Hernandez-Pacheco N, Holt P, Imboden M, Jaddoe VWV, Jarvelin MR, Jarvis DL, Jensen KK, Jónsdóttir I, Kabesch M, Kaprio J, Kumar A, Lee YA, Levin AM, Li X, Lorenzo-Diaz F, Melén E, Mercader JM, Meyers DA, Myers R, Nicolae DL, Nohr EA, Palviainen T, Paternoster L, Pennell CE, Pershagen G, Pino-Yanes M, Probst-Hensch NM, Rüschendorf F, Simpson A, Stefansson K, Sunyer J, Sveinbjornsson G, Thiering E, Thompson PJ, Torrent M, Torrents D, Tung JY, Wang CA, Weidinger S, Weiss S, Willemsen G, Williams LK, Ober C, Hinds DA, Ferreira MA, Bisgaard H, Strachan DP, Bønnelykke K. Waage J, et al. Among authors: mercader jm. Nat Genet. 2018 Aug;50(8):1072-1080. doi: 10.1038/s41588-018-0157-1. Epub 2018 Jul 16. Nat Genet. 2018. PMID: 30013184 Free PMC article.
Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis.
Udler MS, Kim J, von Grotthuss M, Bonàs-Guarch S, Cole JB, Chiou J; Christopher D. Anderson on behalf of METASTROKE and the ISGC; Boehnke M, Laakso M, Atzmon G, Glaser B, Mercader JM, Gaulton K, Flannick J, Getz G, Florez JC. Udler MS, et al. Among authors: mercader jm. PLoS Med. 2018 Sep 21;15(9):e1002654. doi: 10.1371/journal.pmed.1002654. eCollection 2018 Sep. PLoS Med. 2018. PMID: 30240442 Free PMC article.
Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes.
Miguel-Escalada I, Bonàs-Guarch S, Cebola I, Ponsa-Cobas J, Mendieta-Esteban J, Atla G, Javierre BM, Rolando DMY, Farabella I, Morgan CC, García-Hurtado J, Beucher A, Morán I, Pasquali L, Ramos-Rodríguez M, Appel EVR, Linneberg A, Gjesing AP, Witte DR, Pedersen O, Grarup N, Ravassard P, Torrents D, Mercader JM, Piemonti L, Berney T, de Koning EJP, Kerr-Conte J, Pattou F, Fedko IO, Groop L, Prokopenko I, Hansen T, Marti-Renom MA, Fraser P, Ferrer J. Miguel-Escalada I, et al. Among authors: mercader jm. Nat Genet. 2019 Jul;51(7):1137-1148. doi: 10.1038/s41588-019-0457-0. Epub 2019 Jun 28. Nat Genet. 2019. PMID: 31253982 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, Strom TM, T… See abstract for full author list ➔ Goodrich JK, et al. Among authors: mercader jm. Nat Commun. 2021 Jun 9;12(1):3505. doi: 10.1038/s41467-021-23556-4. Nat Commun. 2021. PMID: 34108472 Free PMC article.
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.
Mahajan A, Spracklen CN, Zhang W, Ng MCY, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, Kim YJ, Horikoshi M, Mercader JM, Taliun D, Moon S, Kwak SH, Robertson NR, Rayner NW, Loh M, Kim BJ, Chiou J, Miguel-Escalada I, Della Briotta Parolo P, Lin K, Bragg F, Preuss MH, Takeuchi F, Nano J, Guo X, Lamri A, Nakatochi M, Scott RA, Lee JJ, Huerta-Chagoya A, Graff M, Chai JF, Parra EJ, Yao J, Bielak LF, Tabara Y, Hai Y, Steinthorsdottir V, Cook JP, Kals M, Grarup N, Schmidt EM, Pan I, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Long J, Sun M, Tong L, Chen WM, Ahmad M, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Lecoeur C, Prins BP, Nicolas A, Yanek LR, Chen G, Jensen RA, Tajuddin S, Kabagambe EK, An P, Xiang AH, Choi HS, Cade BE, Tan J, Flanagan J, Abaitua F, Adair LS, Adeyemo A, Aguilar-Salinas CA, Akiyama M, Anand SS, Bertoni A, Bian Z, Bork-Jensen J, Brandslund I, Brody JA, Brummett CM, Buchanan TA, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Forna… See abstract for full author list ➔ Mahajan A, et al. Among authors: mercader jm. Nat Genet. 2022 May;54(5):560-572. doi: 10.1038/s41588-022-01058-3. Epub 2022 May 12. Nat Genet. 2022. PMID: 35551307 Free PMC article.
199 results