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Clonal dynamics of haematopoiesis across the human lifespan.
Mitchell E, Spencer Chapman M, Williams N, Dawson KJ, Mende N, Calderbank EF, Jung H, Mitchell T, Coorens THH, Spencer DH, Machado H, Lee-Six H, Davies M, Hayler D, Fabre MA, Mahbubani K, Abascal F, Cagan A, Vassiliou GS, Baxter J, Martincorena I, Stratton MR, Kent DG, Chatterjee K, Parsy KS, Green AR, Nangalia J, Laurenti E, Campbell PJ. Mitchell E, et al. Among authors: chatterjee k. Nature. 2022 Jun;606(7913):343-350. doi: 10.1038/s41586-022-04786-y. Epub 2022 Jun 1. Nature. 2022. PMID: 35650442 Free PMC article.
Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members. Timpson NJ, et al. Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871. Nat Commun. 2014. PMID: 25225788 Free PMC article.
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K. Schoenmakers E, et al. Among authors: chatterjee k. Nat Commun. 2023 Dec 2;14(1):7994. doi: 10.1038/s41467-023-43851-6. Nat Commun. 2023. PMID: 38042913 Free PMC article.
Whole-genome sequence-based analysis of thyroid function.
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium. Taylor PN, et al. Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Nat Commun. 2015. PMID: 25743335 Free PMC article.
Prospective functional classification of all possible missense variants in PPARG.
Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, Duby M, Sharpe T, Kalkhoven E, Rosen ED, Barroso I, Ellard S; UK Monogenic Diabetes Consortium; Kathiresan S; Myocardial Infarction Genetics Consortium; O'Rahilly S; UK Congenital Lipodystrophy Consortium; Chatterjee K, Florez JC, Mikkelsen T, Savage DB, Altshuler D. Majithia AR, et al. Among authors: chatterjee k. Nat Genet. 2016 Dec;48(12):1570-1575. doi: 10.1038/ng.3700. Epub 2016 Oct 17. Nat Genet. 2016. PMID: 27749844 Free PMC article.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium; Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Haworth S, et al. Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x. Nat Commun. 2019. PMID: 30664637 Free PMC article.
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.
Krieger TG, Moran CM, Frangini A, Visser WE, Schoenmakers E, Muntoni F, Clark CA, Gadian D, Chong WK, Kuczynski A, Dattani M, Lyons G, Efthymiadou A, Varga-Khadem F, Simons BD, Chatterjee K, Livesey FJ. Krieger TG, et al. Among authors: chatterjee k. Proc Natl Acad Sci U S A. 2019 Nov 5;116(45):22754-22763. doi: 10.1073/pnas.1908762116. Epub 2019 Oct 18. Proc Natl Acad Sci U S A. 2019. PMID: 31628250 Free PMC article.
Resistance to thyroid hormone induced tachycardia in RTHα syndrome.
Dore R, Watson L, Hollidge S, Krause C, Sentis SC, Oelkrug R, Geißler C, Johann K, Pedaran M, Lyons G, Lopez-Alcantara N, Resch J, Sayk F, Iwen KA, Franke A, Boysen TJ, Dalley JW, Lorenz K, Moran C, Rennie KL, Arner A, Kirchner H, Chatterjee K, Mittag J. Dore R, et al. Among authors: chatterjee k. Nat Commun. 2023 Jun 7;14(1):3312. doi: 10.1038/s41467-023-38960-1. Nat Commun. 2023. PMID: 37286550 Free PMC article.
1,412 results