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101 results

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Page 1
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Among authors: berumen j. Nature. 2024 May 20. doi: 10.1038/s41586-024-07556-0. Online ahead of print. Nature. 2024. PMID: 38768635
Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.
Mitchell J, Camacho N, Shea P, Stopsack KH, Joseph V, Burren O, Dhindsa R, Nag A, Berchuck JE, O'Neill A, Abbasi A, Zoghbi AW, Alegre-Díaz J, Kuri-Morales P, Berumen J, Tapia-Conyer R, Emberson J, Torres JM, Collins R, Wang Q, Goldstein D, Matakidou A, Haefliger C, Anderson-Dring L, March R, Jobanputra V, Dougherty B, Carss K, Petrovski S, Kantoff PW, Offit K, Mucci LA, Pomerantz M, Fabre MA. Mitchell J, et al. Among authors: berumen j. medRxiv [Preprint]. 2024 May 10:2024.05.10.24307164. doi: 10.1101/2024.05.10.24307164. medRxiv. 2024. PMID: 38766261 Free PMC article. Preprint.
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Ziyatdinov A, Torres J, Alegre-Díaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, García-Ortiz H, Ramirez-Reyes R, Santacruz-Benítez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zöllner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Ziyatdinov A, et al. Among authors: berumen j. Nature. 2024 Feb;626(8001):E18. doi: 10.1038/s41586-024-07051-6. Nature. 2024. PMID: 38332034 Free PMC article. No abstract available.
Forensic parameters and population structure based on 21 autosomal STRs with the investigator 24plex QS in mestizos from the Mexico City population.
Salinas-Pineda L, Berumen J, Lopez Armenta M, Leon Campos C, Rangel-Villalobos H, Juarez-Torres E, Huerta-Pacheco NS, Aguilar-Velazquez JA, Villavicencio-Queijeiro A, Guardado-Estrada M. Salinas-Pineda L, et al. Among authors: berumen j. Leg Med (Tokyo). 2024 Feb;66:102344. doi: 10.1016/j.legalmed.2023.102344. Epub 2023 Nov 8. Leg Med (Tokyo). 2024. PMID: 37977100
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Ziyatdinov A, Torres J, Alegre-Díaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, García-Ortiz H, Ramirez-Reyes R, Santacruz-Benítez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zöllner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Ziyatdinov A, et al. Among authors: berumen j. Nature. 2023 Oct;622(7984):784-793. doi: 10.1038/s41586-023-06595-3. Epub 2023 Oct 11. Nature. 2023. PMID: 37821707 Free PMC article.
Educational and social inequalities and cause-specific mortality in Mexico City: a prospective study.
Addey T, Alegre-Díaz J, Bragg F, Trichia E, Wade R, Santacruz-Benitez R, Ramirez-Reyes R, Garcilazo-Ávila A, Gonzáles-Carballo C, Bello-Chavolla OY, Antonio-Villa NE, Aguilar-Ramirez D, Friedrichs LG, Lewington S, Peto R, Collins R, Berumen J, Emberson JR, Kuri-Morales P, Tapia-Conyer R. Addey T, et al. Among authors: berumen j. Lancet Public Health. 2023 Sep;8(9):e670-e679. doi: 10.1016/S2468-2667(23)00153-6. Lancet Public Health. 2023. PMID: 37633676 Free PMC article.
Association of tyrosine hydroxylase 01 (TH01) microsatellite and insulin gene (INS) variable number of tandem repeat (VNTR) with type 2 diabetes and fasting insulin secretion in Mexican population.
Berumen J, Orozco L, Gallardo-Rincón H, Juárez-Torres E, Barrera E, Cruz-López M, Benuto RE, Ramos-Martinez E, Marin-Madina M, Alvarado-Silva A, Valladares-Salgado A, Peralta-Romero JJ, García-Ortiz H, Martinez-Juarez LA, Montoya A, Alvarez-Hernández DA, Alegre-Diaz J, Kuri-Morales P, Tapia-Conyer R. Berumen J, et al. J Endocrinol Invest. 2024 Mar;47(3):571-583. doi: 10.1007/s40618-023-02175-4. Epub 2023 Aug 25. J Endocrinol Invest. 2024. PMID: 37624484 Free PMC article.
The mRNA and protein levels of the glycolytic enzymes lactate dehydrogenase A (LDHA) and phosphofructokinase platelet (PFKP) are good predictors of survival time, recurrence, and risk of death in cervical cancer patients.
Bolaños-Suárez V, Alfaro A, Espinosa AM, Medina-Martínez I, Juárez E, Villegas-Sepúlveda N, Gudiño-Zayas M, Gutiérrez-Castro A, Román-Bassaure E, Salinas-Nieves ME, Bruno-Muñoz S, Aranda C, Flores-Herrera O, Berumen J. Bolaños-Suárez V, et al. Among authors: berumen j. Cancer Med. 2023 Jul;12(14):15632-15649. doi: 10.1002/cam4.6123. Epub 2023 Jun 16. Cancer Med. 2023. PMID: 37326348 Free PMC article.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM, Watanabe K, Mbatchou J, Ayer A, Quon P, Sharma D, Kessler MD, Praveen K, Gelfman S, Parikshak N, Otto JM, Bao S, Chim SM, Pavlopoulos E, Avbersek A, Kapoor M, Chen E, Jones MB, Leblanc M, Emberson J, Collins R, Torres J, Morales PK, Tapia-Conyer R, Alegre J, Berumen J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Shuldiner AR, Balasubramanian S, Abecasis GR, Kang HM, Marchini J, Stahl EA, Jorgenson E, Sanchez R, Liedtke W, Anderson M, Cantor M, Lederer D, Baras A, Coppola G. Rajagopal VM, et al. Among authors: berumen j. Nat Genet. 2023 Jul;55(7):1138-1148. doi: 10.1038/s41588-023-01417-8. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308787 Free PMC article.
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