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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2000 2
2001 1
2002 4
2003 4
2004 3
2005 8
2006 6
2007 9
2008 12
2009 7
2010 12
2011 10
2012 19
2013 17
2014 12
2015 18
2016 6
2017 14
2018 7
2019 8
2020 9
2021 11
2022 7
2023 6
2024 1

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197 results

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Page 1
A brief history of human disease genetics.
Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. Claussnitzer M, et al. Among authors: dermitzakis et. Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8. Nature. 2020. PMID: 31915397 Free PMC article. Review.
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi F, Bürer C, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Rätsch G, Dermitzakis ET, Wollscheid B, Baumgartner MR, Froese DS. Forny P, et al. Among authors: dermitzakis et. Nat Metab. 2023 Jan;5(1):80-95. doi: 10.1038/s42255-022-00720-8. Epub 2023 Jan 26. Nat Metab. 2023. PMID: 36717752 Free PMC article.
The impact of sex on gene expression across human tissues.
Oliva M, Muñoz-Aguirre M, Kim-Hellmuth S, Wucher V, Gewirtz ADH, Cotter DJ, Parsana P, Kasela S, Balliu B, Viñuela A, Castel SE, Mohammadi P, Aguet F, Zou Y, Khramtsova EA, Skol AD, Garrido-Martín D, Reverter F, Brown A, Evans P, Gamazon ER, Payne A, Bonazzola R, Barbeira AN, Hamel AR, Martinez-Perez A, Soria JM; GTEx Consortium; Pierce BL, Stephens M, Eskin E, Dermitzakis ET, Segrè AV, Im HK, Engelhardt BE, Ardlie KG, Montgomery SB, Battle AJ, Lappalainen T, Guigó R, Stranger BE. Oliva M, et al. Among authors: dermitzakis et. Science. 2020 Sep 11;369(6509):eaba3066. doi: 10.1126/science.aba3066. Science. 2020. PMID: 32913072 Free PMC article.
Initial sequencing and comparative analysis of the mouse genome.
Mouse Genome Sequencing Consortium; Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigó R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, Karlsson EK, Karolchik D, Kasprzyk A, Kawai J, Keibler E, Kells C, Kent WJ, Kirby A, Kolbe DL, Korf I, Kuc… See abstract for full author list ➔ Mouse Genome Sequencing Consortium, et al. Among authors: dermitzakis et. Nature. 2002 Dec 5;420(6915):520-62. doi: 10.1038/nature01262. Nature. 2002. PMID: 12466850
Longitudinal multi-omics analysis identifies early blood-based predictors of anti-TNF therapy response in inflammatory bowel disease.
Mishra N, Aden K, Blase JI, Baran N, Bordoni D, Tran F, Conrad C, Avalos D, Jaeckel C, Scherer M, Sørensen SB, Overgaard SH, Schulte B, Nikolaus S, Rey G, Gasparoni G, Lyons PA, Schultze JL, Walter J, Andersen V; SYSCID Consortium; Dermitzakis ET, Schreiber S, Rosenstiel P. Mishra N, et al. Among authors: dermitzakis et. Genome Med. 2022 Sep 24;14(1):110. doi: 10.1186/s13073-022-01112-z. Genome Med. 2022. PMID: 36153599 Free PMC article.
Proteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases.
Carland C, Png G, Malarstig A, Kho PF, Gustafsson S, Michaelsson K, Lind L, Tsafantakis E, Karaleftheri M, Dedoussis G, Ramisch A, Macdonald-Dunlop E, Klaric L, Joshi PK, Chen Y, Björck HM, Eriksson P, Carrasco-Zanini J, Wheeler E, Suhre K, Gilly A, Zeggini E, Viñuela A, Dermitzakis ET, Wilson JF, Langenberg C, Thareja G, Halama A, Schmidt F; SCALLOP Consortium; Zanetti D, Assimes T. Carland C, et al. Among authors: dermitzakis et. Clin Proteomics. 2023 Aug 7;20(1):31. doi: 10.1186/s12014-023-09421-0. Clin Proteomics. 2023. PMID: 37550624 Free PMC article.
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits.
Brown AA, Fernandez-Tajes JJ, Hong MG, Brorsson CA, Koivula RW, Davtian D, Dupuis T, Sartori A, Michalettou TD, Forgie IM, Adam J, Allin KH, Caiazzo R, Cederberg H, De Masi F, Elders PJM, Giordano GN, Haid M, Hansen T, Hansen TH, Hattersley AT, Heggie AJ, Howald C, Jones AG, Kokkola T, Laakso M, Mahajan A, Mari A, McDonald TJ, McEvoy D, Mourby M, Musholt PB, Nilsson B, Pattou F, Penet D, Raverdy V, Ridderstråle M, Romano L, Rutters F, Sharma S, Teare H, 't Hart L, Tsirigos KD, Vangipurapu J, Vestergaard H, Brunak S, Franks PW, Frost G, Grallert H, Jablonka B, McCarthy MI, Pavo I, Pedersen O, Ruetten H, Walker M; DIRECT Consortium; Adamski J, Schwenk JM, Pearson ER, Dermitzakis ET, Viñuela A. Brown AA, et al. Among authors: dermitzakis et. Nat Commun. 2023 Aug 21;14(1):5062. doi: 10.1038/s41467-023-40569-3. Nat Commun. 2023. PMID: 37604891 Free PMC article.
Genetic Landscape of the ACE2 Coronavirus Receptor.
Yang Z, Macdonald-Dunlop E, Chen J, Zhai R, Li T, Richmond A, Klarić L, Pirastu N, Ning Z, Zheng C, Wang Y, Huang T, He Y, Guo H, Ying K, Gustafsson S, Prins B, Ramisch A, Dermitzakis ET, Png G, Eriksson N, Haessler J, Hu X, Zanetti D, Boutin T, Hwang SJ, Wheeler E, Pietzner M, Raffield LM, Kalnapenkis A, Peters JE, Viñuela A, Gilly A, Elmståhl S, Dedoussis G, Petrie JR, Polašek O, Folkersen L, Chen Y, Yao C, Võsa U, Pairo-Castineira E, Clohisey S, Bretherick AD, Rawlik K; GenOMICC Consortium†; IMI-DIRECT Consortium†; Esko T, Enroth S, Johansson Å, Gyllensten U, Langenberg C, Levy D, Hayward C, Assimes TL, Kooperberg C, Manichaikul AW, Siegbahn A, Wallentin L, Lind L, Zeggini E, Schwenk JM, Butterworth AS, Michaëlsson K, Pawitan Y, Joshi PK, Baillie JK, Mälarstig A, Reiner AP, Wilson JF, Shen X. Yang Z, et al. Among authors: dermitzakis et. Circulation. 2022 May 3;145(18):1398-1411. doi: 10.1161/CIRCULATIONAHA.121.057888. Epub 2022 Apr 7. Circulation. 2022. PMID: 35387486 Free PMC article.
Cell type-specific genetic regulation of gene expression across human tissues.
Kim-Hellmuth S, Aguet F, Oliva M, Muñoz-Aguirre M, Kasela S, Wucher V, Castel SE, Hamel AR, Viñuela A, Roberts AL, Mangul S, Wen X, Wang G, Barbeira AN, Garrido-Martín D, Nadel BB, Zou Y, Bonazzola R, Quan J, Brown A, Martinez-Perez A, Soria JM; GTEx Consortium; Getz G, Dermitzakis ET, Small KS, Stephens M, Xi HS, Im HK, Guigó R, Segrè AV, Stranger BE, Ardlie KG, Lappalainen T. Kim-Hellmuth S, et al. Among authors: dermitzakis et. Science. 2020 Sep 11;369(6509):eaaz8528. doi: 10.1126/science.aaz8528. Science. 2020. PMID: 32913075 Free PMC article.
Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Lagou V, Mägi R, Hottenga JJ, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D, Jansen R, Min JL, Dimas AS, Ulrich A, Zudina L, Gådin JR, Jiang L, Faggian A, Bonnefond A, Fadista J, Stathopoulou MG, Isaacs A, Willems SM, Navarro P, Tanaka T, Jackson AU, Montasser ME, O'Connell JR, Bielak LF, Webster RJ, Saxena R, Stafford JM, Pourcain BS, Timpson NJ, Salo P, Shin SY, Amin N, Smith AV, Li G, Verweij N, Goel A, Ford I, Johnson PCD, Johnson T, Kapur K, Thorleifsson G, Strawbridge RJ, Rasmussen-Torvik LJ, Esko T, Mihailov E, Fall T, Fraser RM, Mahajan A, Kanoni S, Giedraitis V, Kleber ME, Silbernagel G, Meyer J, Müller-Nurasyid M, Ganna A, Sarin AP, Yengo L, Shungin D, Luan J, Horikoshi M, An P, Sanna S, Boettcher Y, Rayner NW, Nolte IM, Zemunik T, Iperen EV, Kovacs P, Hastie ND, Wild SH, McLachlan S, Campbell S, Polasek O, Carlson O, Egan J, Kiess W, Willemsen G, Kuusisto J, Laakso M, Dimitriou M, Hicks AA, Rauramaa R, Bandinelli S, Thorand B, Liu Y, Miljkovic I, Lind L, Doney A, Perola M, Hingorani A, Kivimaki M, Kumari M, Bennett AJ, Groves CJ, Herder C, Koistinen HA, Kinnunen L, Faire U, Bakker SJL, Uusitupa M, Palmer CNA, Jukema JW, Sattar N, Pouta A, Snieder H, Boerwink… See abstract for full author list ➔ Lagou V, et al. Among authors: dermitzakis et. Nat Commun. 2021 Jan 5;12(1):24. doi: 10.1038/s41467-020-19366-9. Nat Commun. 2021. PMID: 33402679 Free PMC article.
197 results