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Year Number of Results
1962 1
1983 1
1986 2
1989 1
1991 1
1992 2
1993 1
1994 2
1995 1
1996 4
1997 5
1998 5
1999 5
2000 10
2001 14
2002 12
2003 9
2004 16
2005 16
2006 11
2007 15
2008 20
2009 36
2010 15
2011 31
2012 28
2013 38
2014 25
2015 24
2016 37
2017 42
2018 40
2019 39
2020 49
2021 67
2022 49
2023 35
2024 38
2025 12

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688 results

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Page 1
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD, Li AH, Marcketta A, Sun D, Mbatchou J, Kessler MD, Benner C, Liu D, Locke AE, Balasubramanian S, Yadav A, Banerjee N, Gillies CE, Damask A, Liu S, Bai X, Hawes A, Maxwell E, Gurski L, Watanabe K, Kosmicki JA, Rajagopal V, Mighty J; Regeneron Genetics Center; DiscovEHR; Jones M, Mitnaul L, Stahl E, Coppola G, Jorgenson E, Habegger L, Salerno WJ, Shuldiner AR, Lotta LA, Overton JD, Cantor MN, Reid JG, Yancopoulos G, Kang HM, Marchini J, Baras A, Abecasis GR, Ferreira MAR. Backman JD, et al. Among authors: ferreira mar. Nature. 2021 Nov;599(7886):628-634. doi: 10.1038/s41586-021-04103-z. Epub 2021 Oct 18. Nature. 2021. PMID: 34662886 Free PMC article.
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Akbari P, Gilani A, Sosina O, Kosmicki JA, Khrimian L, Fang YY, Persaud T, Garcia V, Sun D, Li A, Mbatchou J, Locke AE, Benner C, Verweij N, Lin N, Hossain S, Agostinucci K, Pascale JV, Dirice E, Dunn M; Regeneron Genetics Center; DiscovEHR Collaboration; Kraus WE, Shah SH, Chen YI, Rotter JI, Rader DJ, Melander O, Still CD, Mirshahi T, Carey DJ, Berumen-Campos J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Balasubramanian S, Hawes A, Jones M, Zambrowicz B, Murphy AJ, Paulding C, Coppola G, Overton JD, Reid JG, Shuldiner AR, Cantor M, Kang HM, Abecasis GR, Karalis K, Economides AN, Marchini J, Yancopoulos GD, Sleeman MW, Altarejos J, Della Gatta G, Tapia-Conyer R, Schwartzman ML, Baras A, Ferreira MAR, Lotta LA. Akbari P, et al. Among authors: ferreira mar. Science. 2021 Jul 2;373(6550):eabf8683. doi: 10.1126/science.abf8683. Science. 2021. PMID: 34210852 Free PMC article.
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor SS, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mells GF; PBC Consortia; Canadian PBC Consortium; Chinese PBC Consortium; Italian PBC Study Group; Japan-PBC-GWAS Consortium; US PBC Consortium; UK-PBC Consortium. Cordell HJ, et al. Among authors: ferreira mar. J Hepatol. 2021 Sep;75(3):572-581. doi: 10.1016/j.jhep.2021.04.055. Epub 2021 May 23. J Hepatol. 2021. PMID: 34033851 Free PMC article.
Safety and efficacy of itepekimab in patients with moderate-to-severe COPD: a genetic association study and randomised, double-blind, phase 2a trial.
Rabe KF, Celli BR, Wechsler ME, Abdulai RM, Luo X, Boomsma MM, Staudinger H, Horowitz JE, Baras A, Ferreira MA, Ruddy MK, Nivens MC, Amin N, Weinreich DM, Yancopoulos GD, Goulaouic H. Rabe KF, et al. Among authors: ferreira ma. Lancet Respir Med. 2021 Nov;9(11):1288-1298. doi: 10.1016/S2213-2600(21)00167-3. Epub 2021 Jul 21. Lancet Respir Med. 2021. PMID: 34302758 Clinical Trial.
Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E. Kessler MD, et al. Among authors: ferreira mar. Nature. 2022 Dec;612(7939):301-309. doi: 10.1038/s41586-022-05448-9. Epub 2022 Nov 30. Nature. 2022. PMID: 36450978 Free PMC article.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Among authors: ferreira mar. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P, Sosina OA, Bovijn J, Landheer K, Nielsen JB, Kim M, Aykul S, De T, Haas ME, Hindy G, Lin N, Dinsmore IR, Luo JZ, Hectors S, Geraghty B, Germino M, Panagis L, Parasoglou P, Walls JR, Halasz G, Atwal GS; Regeneron Genetics Center; DiscovEHR Collaboration; Jones M, LeBlanc MG, Still CD, Carey DJ, Giontella A, Orho-Melander M, Berumen J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Rader DJ, Zambrowicz B, Murphy AJ, Balasubramanian S, Overton JD, Reid JG, Shuldiner AR, Cantor M, Abecasis GR, Ferreira MAR, Sleeman MW, Gusarova V, Altarejos J, Harris C, Economides AN, Idone V, Karalis K, Della Gatta G, Mirshahi T, Yancopoulos GD, Melander O, Marchini J, Tapia-Conyer R, Locke AE, Baras A, Verweij N, Lotta LA. Akbari P, et al. Among authors: ferreira mar. Nat Commun. 2022 Aug 23;13(1):4844. doi: 10.1038/s41467-022-32398-7. Nat Commun. 2022. PMID: 35999217 Free PMC article.
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.
Roychowdhury T, Klarin D, Levin MG, Spin JM, Rhee YH, Deng A, Headley CA, Tsao NL, Gellatly C, Zuber V, Shen F, Hornsby WE, Laursen IH, Verma SS, Locke AE, Einarsson G, Thorleifsson G, Graham SE, Dikilitas O, Pattee JW, Judy RL, Pauls-Verges F, Nielsen JB, Wolford BN, Brumpton BM, Dilmé J, Peypoch O, Juscafresa LC, Edwards TL, Li D, Banasik K, Brunak S, Jacobsen RL, Garcia-Barrio MT, Zhang J, Rasmussen LM, Lee R, Handa A, Wanhainen A, Mani K, Lindholt JS, Obel LM, Strauss E, Oszkinis G, Nelson CP, Saxby KL, van Herwaarden JA, van der Laan SW, van Setten J, Camacho M, Davis FM, Wasikowski R, Tsoi LC, Gudjonsson JE, Eliason JL, Coleman DM, Henke PK, Ganesh SK, Chen YE, Guan W, Pankow JS, Pankratz N, Pedersen OB, Erikstrup C, Tang W, Hveem K, Gudbjartsson D, Gretarsdottir S, Thorsteinsdottir U, Holm H, Stefansson K, Ferreira MA, Baras A, Kullo IJ, Ritchie MD, Christensen AH, Iversen KK, Eldrup N, Sillesen H, Ostrowski SR, Bundgaard H, Ullum H, Burgess S, Gill D, Gallagher K, Sabater-Lleal M; DiscovEHR; Regeneron Genetics Center; UK Aneurysm Growth Study; DBDS Genomic Consortium; VA Million Veteran Program; Surakka I, Jones GT, Bown MJ, Tsao PS, Willer CJ, Damrauer SM. Roychowdhury T, et al. Among authors: ferreira ma. Nat Genet. 2023 Nov;55(11):1831-1842. doi: 10.1038/s41588-023-01510-y. Epub 2023 Oct 16. Nat Genet. 2023. PMID: 37845353 Free PMC article.
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan DP, Curtin JA, Bønnelykke K, Tian C, Takahashi A, Esparza-Gordillo J, Alves AC, Thyssen JP, den Dekker HT, Ferreira MA, Altmaier E, Sleiman PM, Xiao FL, Gonzalez JR, Marenholz I, Kalb B, Yanes MP, Xu CJ, Carstensen L, Groen-Blokhuis MM, Venturini C, Pennell CE, Barton SJ, Levin AM, Curjuric I, Bustamante M, Kreiner-Møller E, Lockett GA, Bacelis J, Bunyavanich S, Myers RA, Matanovic A, Kumar A, Tung JY, Hirota T, Kubo M, McArdle WL, Henderson AJ, Kemp JP, Zheng J, Smith GD, Rüschendorf F, Bauerfeind A, Lee-Kirsch MA, Arnold A, Homuth G, Schmidt CO, Mangold E, Cichon S, Keil T, Rodríguez E, Peters A, Franke A, Lieb W, Novak N, Fölster-Holst R, Horikoshi M, Pekkanen J, Sebert S, Husemoen LL, Grarup N, de Jongste JC, Rivadeneira F, Hofman A, Jaddoe VW, Pasmans SG, Elbert NJ, Uitterlinden AG, Marks GB, Thompson PJ, Matheson MC, Robertson CF; Australian Asthma Genetics Consortium (AAGC); Ried JS, Li J, Zuo XB, Zheng XD, Yin XY, Sun LD, McAleer MA, O'Regan GM, Fahy CM, Campbell LE, Macek M, Kurek M, Hu D, Eng C, Postma DS, Feenstra B, Geller F, Hottenga JJ, Middeldorp CM, Hysi P, Bataille V, Spector T, Tiesler CM, Thi… See abstract for full author list ➔ Paternoster L, et al. Among authors: ferreira ma. Nat Genet. 2015 Dec;47(12):1449-1456. doi: 10.1038/ng.3424. Epub 2015 Oct 19. Nat Genet. 2015. PMID: 26482879 Free PMC article.
688 results