Below are the most recent publications written about "Exome" by people in Profiles.
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Yuan Q, Hodgkinson C, Liu X, Barton B, Diazgranados N, Schwandt M, Morgan T, Bataller R, Liangpunsakul S, Nagy LE, Goldman D. Exome-wide association analysis identifies novel risk loci for alcohol-associated hepatitis. Hepatology. 2025 Apr 01; 81(4):1304-1317.
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Hop PJ, Lai D, Keagle PJ, Baron DM, Kenna BJ, Kooyman M, Halter C, Straniero L, Asselta R, Bonvegna S, Soto-Beasley AI, Wszolek ZK, Uitti RJ, Isaias IU, Pezzoli G, Ticozzi N, Ross OA, Veldink JH, Foroud TM, Kenna KP, Landers JE. Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease. Nat Genet. 2024 Jul; 56(7):1371-1376.
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Leung YY, Naj AC, Chou YF, Valladares O, Schmidt M, Hamilton-Nelson K, Wheeler N, Lin H, Gangadharan P, Qu L, Clark K, Kuzma AB, Lee WP, Cantwell L, Nicaretta H, Haines J, Farrer L, Seshadri S, Brkanac Z, Cruchaga C, Pericak-Vance M, Mayeux RP, Bush WS, Destefano A, Martin E, Schellenberg GD, Wang LS. Human whole-exome genotype data for Alzheimer's disease. Nat Commun. 2024 Jan 23; 15(1):684.
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Zhang D, Povysil G, Kobeissy PH, Li Q, Wang B, Amelotte M, Jaouadi H, Newton CA, Maher TM, Molyneaux PL, Noth I, Martinez FJ, Raghu G, Todd JL, Palmer SM, Haefliger C, Platt A, Petrovski S, Garcia JA, Goldstein DB, Garcia CK. Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2022 07 01; 206(1):56-69.
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Sarnowski C, Ghanbari M, Bis JC, Logue M, Fornage M, Mishra A, Ahmad S, Beiser AS, Boerwinkle E, Bouteloup V, Chouraki V, Cupples LA, Damotte V, DeCarli CS, DeStefano AL, Djouss? L, Fohner AE, Franz CE, Kautz TF, Lambert JC, Lyons MJ, Mosley TH, Mukamal KJ, Pase MP, Portilla Fernandez EC, Rissman RA, Satizabal CL, Vasan RS, Yaqub A, Debette S, Dufouil C, Launer LJ, Kremen WS, Longstreth WT, Ikram MA, Seshadri S. Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. Commun Biol. 2022 04 08; 5(1):336.
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Tran NH, Nguyen Thi TH, Tang HS, Hoang LP, Nguyen TL, Tran NT, Trinh TN, Nguyen VT, Nguyen BH, Nguyen HT, Doan LP, Phan NM, Nguyen KT, Nguyen HL, Quach MT, Nguyen TT, Tran VU, Tran DV, Nguyen QT, Do TT, Lam NV, Cao Thi Ngoc P, Truong DK, Nguyen HN, Phan MD, Giang H. Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing. Hum Mutat. 2021 10; 42(10):1229-1238.
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Wahlster L, Verboon JM, Ludwig LS, Black SC, Luo W, Garg K, Voit RA, Collins RL, Garimella K, Costello M, Chao KR, Goodrich JK, DiTroia SP, O'Donnell-Luria A, Talkowski ME, Michelson AD, Cantor AB, Sankaran VG. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021 06 07; 218(6).
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Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109.
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Ilaslan E, Markosyan R, Sproll P, Stevenson BJ, Sajek M, Sajek MP, Hayrapetyan H, Sarkisian T, Livshits L, Nef S, Jaruzelska J, Kusz-Zamelczyk K. The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome. Int J Mol Sci. 2020 Nov 09; 21(21).
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Fontana P, Ibberson M, Stevenson B, Wigger L, Daali Y, Niknejad A, Mach F, Docquier M, Xenarios I, Cuisset T, Alessi MC, Reny JL. Contribution of exome sequencing to the identification of genes involved in the response to clopidogrel in cardiovascular patients. J Thromb Haemost. 2020 06; 18(6):1425-1434.