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266 results

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Page 1
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: petrovski s. medRxiv [Preprint]. 2024 May 10:2024.05.10.24307164. doi: 10.1101/2024.05.10.24307164. medRxiv. 2024. PMID: 38766261 Free PMC article. Preprint.
Phenome-wide identification of therapeutic genetic targets, leveraging knowledge graphs, graph neural networks, and UK Biobank data.
Middleton L, Melas I, Vasavda C, Raies A, Rozemberczki B, Dhindsa RS, Dhindsa JS, Weido B, Wang Q, Harper AR, Edwards G, Petrovski S, Vitsios D. Middleton L, et al. Among authors: petrovski s. Sci Adv. 2024 May 10;10(19):eadj1424. doi: 10.1126/sciadv.adj1424. Epub 2024 May 8. Sci Adv. 2024. PMID: 38718126 Free PMC article.
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Zhao Y, Chukanova M, Kentistou KA, Fairhurst-Hunter Z, Siegert AM, Jia RY, Dowsett GKC, Gardner EJ, Lawler K, Day FR, Kaisinger LR, Tung YL, Lam BYH, Chen HC, Wang Q, Berumen-Campos J, Kuri-Morales P, Tapia-Conyer R, Alegre-Diaz J, Barroso I, Emberson J, Torres JM, Collins R, Saleheen D, Smith KR, Paul DS, Merkle F, Farooqi IS, Wareham NJ, Petrovski S, O'Rahilly S, Ong KK, Yeo GSH, Perry JRB. Zhao Y, et al. Among authors: petrovski s. Nat Genet. 2024 Apr;56(4):579-584. doi: 10.1038/s41588-024-01694-x. Epub 2024 Apr 4. Nat Genet. 2024. PMID: 38575728 Free PMC article.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF. Xu Y, et al. Among authors: petrovski s. Cell Mol Life Sci. 2024 Mar 28;81(1):153. doi: 10.1007/s00018-023-05069-z. Cell Mol Life Sci. 2024. PMID: 38538865 Free PMC article.
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: petrovski s. Nature. 2024 Feb;626(8001):E18. doi: 10.1038/s41586-024-07051-6. Nature. 2024. PMID: 38332034 Free PMC article. No abstract available.
266 results