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Page 1
Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes.
Chen Z, Guo X, Tao R, Huyghe JR, Law PJ, Fernandez-Rozadilla C, Ping J, Jia G, Long J, Li C, Shen Q, Xie Y, Timofeeva MN, Thomas M, Schmit SL, Díez-Obrero V, Devall M, Moratalla-Navarro F, Fernandez-Tajes J, Palles C, Sherwood K, Briggs SEW, Svinti V, Donnelly K, Farrington SM, Blackmur J, Vaughan-Shaw PG, Shu XO, Lu Y, Broderick P, Studd J, Harrison TA, Conti DV, Schumacher FR, Melas M, Rennert G, Obón-Santacana M, Martín-Sánchez V, Oh JH, Kim J, Jee SH, Jung KJ, Kweon SS, Shin MH, Shin A, Ahn YO, Kim DH, Oze I, Wen W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper JL, Jenkins MA, Win AK, Pai RK, Figueiredo JC, Haile RW, Gallinger S, Woods MO, Newcomb PA, Duggan D, Cheadle JP, Kaplan R, Kerr R, Kerr D, Kirac I, Böhm J, Mecklin JP, Jousilahti P, Knekt P, Aaltonen LA, Rissanen H, Pukkala E, Eriksson JG, Cajuso T, Hänninen U, Kondelin J, Palin K, Tanskanen T, Renkonen-Sinisalo L, Männistö S, Albanes D, Weinstein SJ, Ruiz-Narvaez E, Palmer JR, Buchanan DD, Platz EA, Visvanathan K, Ulrich CM, Siegel E, Brezina S, Gsur A, Campbell PT, Chang-Claude J, Hoffmeister M, Brenner H, Slattery ML, Potter JD, Tsilidis KK, Schulze MB, Gunter MJ, Murphy N, Castells A, Castellví-Bel… See abstract for full author list ➔ Chen Z, et al. Among authors: doheny kf. Nat Commun. 2024 Apr 26;15(1):3557. doi: 10.1038/s41467-024-47399-x. Nat Commun. 2024. PMID: 38670944 Free PMC article.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer.
Darst BF, Saunders E, Dadaev T, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Wang Y, Patel AV, Albanes D, Weinstein SJ, Gnanapragasam V, Huff C, Couch FJ, Wolk A, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz MM, Schmidt JA, Travis RC, Key TJ, Stopsack KH, Mucci LA, Catalona WJ, Marosy B, Hetrick KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Conti DV, Kote-Jarai Z, Haiman CA. Darst BF, et al. Among authors: doheny kf. JAMA Oncol. 2023 Nov 1;9(11):1514-1524. doi: 10.1001/jamaoncol.2023.3482. JAMA Oncol. 2023. PMID: 37733366
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.
Georgeson P, Steinfelder RS, Harrison TA, Pope BJ, Zaidi SH, Qu C, Lin Y, Joo JE, Mahmood K, Clendenning M, Walker R, Aglago EK, Berndt SI, Brenner H, Campbell PT, Cao Y, Chan AT, Chang-Claude J, Dimou N, Doheny KF, Drew DA, Figueiredo JC, French AJ, Gallinger S, Giannakis M, Giles GG, Goode EL, Gruber SB, Gsur A, Gunter MJ, Harlid S, Hoffmeister M, Hsu L, Huang WY, Huyghe JR, Manson JE, Moreno V, Murphy N, Nassir R, Newton CC, Nowak JA, Obón-Santacana M, Ogino S, Pai RK, Papadimitrou N, Potter JD, Schoen RE, Song M, Sun W, Toland AE, Trinh QM, Tsilidis K, Ugai T, Um CY, Macrae FA, Rosty C, Hudson TJ, Winship IM, Phipps AI, Jenkins MA, Peters U, Buchanan DD. Georgeson P, et al. Among authors: doheny kf. medRxiv [Preprint]. 2024 Jan 30:2023.03.10.23287127. doi: 10.1101/2023.03.10.23287127. medRxiv. 2024. PMID: 37090539 Free PMC article. Preprint.
Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men.
Wang A, Xu Y, Yu Y, Nead KT, Kim T, Xu K, Dadaev T, Saunders E, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Gapstur SM, Stevens V, Albanes D, Weinstein SJ, Gnanapragasam V, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz MM, Schmidt JA, Stopsack KH, Mucci LA, Catalona WJ, Hetrick KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Kote-Jarai Z, de Smith AJ, Conti DV, Huff C, Haiman CA, Darst BF. Wang A, et al. Among authors: doheny kf. Hum Mol Genet. 2023 Jan 13;32(3):489-495. doi: 10.1093/hmg/ddac214. Hum Mol Genet. 2023. PMID: 36018819 Free PMC article.
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Georgeson P, Harrison TA, Pope BJ, Zaidi SH, Qu C, Steinfelder RS, Lin Y, Joo JE, Mahmood K, Clendenning M, Walker R, Amitay EL, Berndt SI, Brenner H, Campbell PT, Cao Y, Chan AT, Chang-Claude J, Doheny KF, Drew DA, Figueiredo JC, French AJ, Gallinger S, Giannakis M, Giles GG, Gsur A, Gunter MJ, Hoffmeister M, Hsu L, Huang WY, Limburg P, Manson JE, Moreno V, Nassir R, Nowak JA, Obón-Santacana M, Ogino S, Phipps AI, Potter JD, Schoen RE, Sun W, Toland AE, Trinh QM, Ugai T, Macrae FA, Rosty C, Hudson TJ, Jenkins MA, Thibodeau SN, Winship IM, Peters U, Buchanan DD. Georgeson P, et al. Among authors: doheny kf. Nat Commun. 2022 Jun 6;13(1):3254. doi: 10.1038/s41467-022-30916-1. Nat Commun. 2022. PMID: 35668106 Free PMC article.
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Rodrigues EDS, Griffith S, Martin R, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Sheffer A, Chong JX, Einhorn Y, Cupak M, Sobreira N. Rodrigues EDS, et al. Among authors: doheny kf. Hum Mutat. 2022 Jun;43(6):782-790. doi: 10.1002/humu.24359. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35191117 Free PMC article.
The impact of GeneMatcher on international data sharing and collaboration.
Hamosh A, Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Doheny KF, Valle D, Sobreira N. Hamosh A, et al. Among authors: doheny kf. Hum Mutat. 2022 Jun;43(6):668-673. doi: 10.1002/humu.24350. Epub 2022 Mar 28. Hum Mutat. 2022. PMID: 35170833 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Among authors: doheny kf. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, Kerkhof J, Mignot C, Nougues MC, Keren B, Moore HW, Oegema R, Giltay JC, Simon M, van Jaarsveld RH, Bos J, van Haelst M, Motazacker MM, Boon EMJ, Santen GWE, Ruivenkamp CAL, Alders M, Luperchio TR, Boukas L, Ramsey K, Narayanan V, Schaefer GB, Bonasio R, Doheny KF, Stevenson RE, Banka S, Sadikovic B, Fahrner JA. Levy MA, et al. Among authors: doheny kf. NPJ Genom Med. 2021 Nov 24;6(1):100. doi: 10.1038/s41525-021-00269-7. NPJ Genom Med. 2021. PMID: 34819528 Free PMC article. No abstract available.
110 results