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802 results

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Page 1
Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat MM, Kentistou K, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman B, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman N, Song L, Gardner EJ, Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Among authors: palotie a. medRxiv [Preprint]. 2023 Jan 31:2023.01.28.23285140. doi: 10.1101/2023.01.28.23285140. medRxiv. 2023. PMID: 36778285 Free PMC article. Preprint.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, de Oliveira EM, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santon F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia R, Terao C, Riggan M, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CL, Beckmann MW, Berrington A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Hart RJ, Hickey M, Hooning MJ, Hopp… See abstract for full author list ➔ Kentistou KA, et al. Among authors: palotie a. medRxiv [Preprint]. 2023 Jun 20:2023.06.14.23291322. doi: 10.1101/2023.06.14.23291322. medRxiv. 2023. PMID: 37503126 Free PMC article. Preprint.
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project; Eichler EE. Sudmant PH, et al. Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005. Science. 2010. PMID: 21030649 Free PMC article.
Cardiovascular Significance and Genetics of Epicardial and Pericardial Adiposity.
Rämö JT, Kany S, Hou CR, Friedman SF, Roselli C, Nauffal V, Koyama S, Karjalainen J, Maddah M, Palotie A, Ellinor PT, Pirruccello JP; FinnGen. Rämö JT, et al. Among authors: palotie a. JAMA Cardiol. 2024 May 1;9(5):418-427. doi: 10.1001/jamacardio.2024.0080. JAMA Cardiol. 2024. PMID: 38477908
Taurine deficiency as a driver of aging.
Singh P, Gollapalli K, Mangiola S, Schranner D, Yusuf MA, Chamoli M, Shi SL, Lopes Bastos B, Nair T, Riermeier A, Vayndorf EM, Wu JZ, Nilakhe A, Nguyen CQ, Muir M, Kiflezghi MG, Foulger A, Junker A, Devine J, Sharan K, Chinta SJ, Rajput S, Rane A, Baumert P, Schönfelder M, Iavarone F, di Lorenzo G, Kumari S, Gupta A, Sarkar R, Khyriem C, Chawla AS, Sharma A, Sarper N, Chattopadhyay N, Biswal BK, Settembre C, Nagarajan P, Targoff KL, Picard M, Gupta S, Velagapudi V, Papenfuss AT, Kaya A, Ferreira MG, Kennedy BK, Andersen JK, Lithgow GJ, Ali AM, Mukhopadhyay A, Palotie A, Kastenmüller G, Kaeberlein M, Wackerhage H, Pal B, Yadav VK. Singh P, et al. Among authors: palotie a. Science. 2023 Jun 9;380(6649):eabn9257. doi: 10.1126/science.abn9257. Epub 2023 Jun 9. Science. 2023. PMID: 37289866 Free PMC article.
Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias.
Weng LC, Khurshid S, Hall AW, Nauffal V, Morrill VN, Sun YV, Rämö JT, Beer D, Lee S, Nadkarni G, Johnson R, Andreasen L, Clayton A, Pullinger CR, Yoneda ZT, Friedman DJ, Hyman MC, Judy RL, Skanes AC, Orland KM, Jordà P, Treu TM, Oetjens MT, Subbiah R, Hartmann JP, May HT, Kane JP, Issa TZ, Nafissi NA, Leong-Sit P, Dubé MP, Roselli C, Choi SH; FinnGen, Million Veteran Program, Regeneron Genetics Center; Tardif JC, Khan HR, Knight S, Svendsen JH, Walker B, Karlsson Linnér R, Gaziano JM, Tadros R, Fatkin D, Rader DJ, Shah SH, Roden DM, Marcus GM, Loos RJF, Damrauer SM, Haggerty CM, Cho K, Palotie A, Olesen MS, Eckhardt LL, Roberts JD, Cutler MJ, Shoemaker MB, Wilson PWF, Ellinor PT, Lubitz SA. Weng LC, et al. Among authors: palotie a. Circ Genom Precis Med. 2024 May 28:e004320. doi: 10.1161/CIRCGEN.123.004320. Online ahead of print. Circ Genom Precis Med. 2024. PMID: 38804128
802 results