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Year Number of Results
1958 1
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1964 2
1965 8
1966 3
1967 2
1968 6
1969 8
1970 1
1971 5
1972 4
1973 1
1974 2
1975 3
1976 1
1977 1
1979 1
1980 7
1981 12
1982 8
1983 2
1984 4
1985 7
1986 9
1987 10
1988 4
1989 9
1990 7
1991 16
1992 14
1993 14
1994 16
1995 8
1996 20
1997 15
1998 17
1999 9
2000 10
2001 20
2002 19
2003 16
2004 13
2005 18
2006 18
2007 17
2008 18
2009 18
2010 13
2011 8
2012 12
2013 16
2014 26
2015 22
2016 27
2017 31
2018 38
2019 35
2020 32
2021 36
2022 38
2023 27
2024 34
2025 4

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765 results

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Page 1
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: carey dj. Science. 2021 Jul 2;373(6550):eabf8683. doi: 10.1126/science.abf8683. Science. 2021. PMID: 34210852 Free PMC article.
A high-resolution transcriptomic and spatial atlas of cell types in the whole mouse brain.
Yao Z, van Velthoven CTJ, Kunst M, Zhang M, McMillen D, Lee C, Jung W, Goldy J, Abdelhak A, Aitken M, Baker K, Baker P, Barkan E, Bertagnolli D, Bhandiwad A, Bielstein C, Bishwakarma P, Campos J, Carey D, Casper T, Chakka AB, Chakrabarty R, Chavan S, Chen M, Clark M, Close J, Crichton K, Daniel S, DiValentin P, Dolbeare T, Ellingwood L, Fiabane E, Fliss T, Gee J, Gerstenberger J, Glandon A, Gloe J, Gould J, Gray J, Guilford N, Guzman J, Hirschstein D, Ho W, Hooper M, Huang M, Hupp M, Jin K, Kroll M, Lathia K, Leon A, Li S, Long B, Madigan Z, Malloy J, Malone J, Maltzer Z, Martin N, McCue R, McGinty R, Mei N, Melchor J, Meyerdierks E, Mollenkopf T, Moonsman S, Nguyen TN, Otto S, Pham T, Rimorin C, Ruiz A, Sanchez R, Sawyer L, Shapovalova N, Shepard N, Slaughterbeck C, Sulc J, Tieu M, Torkelson A, Tung H, Valera Cuevas N, Vance S, Wadhwani K, Ward K, Levi B, Farrell C, Young R, Staats B, Wang MM, Thompson CL, Mufti S, Pagan CM, Kruse L, Dee N, Sunkin SM, Esposito L, Hawrylycz MJ, Waters J, Ng L, Smith K, Tasic B, Zhuang X, Zeng H. Yao Z, et al. Among authors: carey d. Nature. 2023 Dec;624(7991):317-332. doi: 10.1038/s41586-023-06812-z. Epub 2023 Dec 13. Nature. 2023. PMID: 38092916 Free PMC article.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK, Gonzaga-Jauregui C, Khalid S, Ye B, Banerjee N, Li AH, O'Dushlaine C, Marcketta A, Staples J, Schurmann C, Hawes A, Maxwell E, Barnard L, Lopez A, Penn J, Habegger L, Blumenfeld AL, Bai X, O'Keeffe S, Yadav A, Praveen K, Jones M, Salerno WJ, Chung WK, Surakka I, Willer CJ, Hveem K, Leader JB, Carey DJ, Ledbetter DH; Geisinger-Regeneron DiscovEHR Collaboration; Cardon L, Yancopoulos GD, Economides A, Coppola G, Shuldiner AR, Balasubramanian S, Cantor M; Regeneron Genetics Center; Nelson MR, Whittaker J, Reid JG, Marchini J, Overton JD, Scott RA, Abecasis GR, Yerges-Armstrong L, Baras A. Van Hout CV, et al. Among authors: carey dj. Nature. 2020 Oct;586(7831):749-756. doi: 10.1038/s41586-020-2853-0. Epub 2020 Oct 21. Nature. 2020. PMID: 33087929 Free PMC article.
In situ cell-type-specific cell-surface proteomic profiling in mice.
Shuster SA, Li J, Chon U, Sinantha-Hu MC, Luginbuhl DJ, Udeshi ND, Carey DK, Takeo YH, Xie Q, Xu C, Mani DR, Han S, Ting AY, Carr SA, Luo L. Shuster SA, et al. Among authors: carey dk. Neuron. 2022 Dec 7;110(23):3882-3896.e9. doi: 10.1016/j.neuron.2022.09.025. Epub 2022 Oct 10. Neuron. 2022. PMID: 36220098 Free PMC article.
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Beck DB, et al. Among authors: carey dj. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. JAMA. 2023. PMID: 36692560 Free PMC article.
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA. Mirshahi UL, et al. Among authors: carey dj. Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17. Am J Hum Genet. 2022. PMID: 36257325 Free PMC article.
Proteomics of protein trafficking by in vivo tissue-specific labeling.
Droujinine IA, Meyer AS, Wang D, Udeshi ND, Hu Y, Rocco D, McMahon JA, Yang R, Guo J, Mu L, Carey DK, Svinkina T, Zeng R, Branon T, Tabatabai A, Bosch JA, Asara JM, Ting AY, Carr SA, McMahon AP, Perrimon N. Droujinine IA, et al. Among authors: carey dk. Nat Commun. 2021 Apr 22;12(1):2382. doi: 10.1038/s41467-021-22599-x. Nat Commun. 2021. PMID: 33888706 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: carey dj. Nat Commun. 2022 Aug 23;13(1):4844. doi: 10.1038/s41467-022-32398-7. Nat Commun. 2022. PMID: 35999217 Free PMC article.
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.
Choi SH, Weng LC, Roselli C, Lin H, Haggerty CM, Shoemaker MB, Barnard J, Arking DE, Chasman DI, Albert CM, Chaffin M, Tucker NR, Smith JD, Gupta N, Gabriel S, Margolin L, Shea MA, Shaffer CM, Yoneda ZT, Boerwinkle E, Smith NL, Silverman EK, Redline S, Vasan RS, Burchard EG, Gogarten SM, Laurie C, Blackwell TW, Abecasis G, Carey DJ, Fornwalt BK, Smelser DT, Baras A, Dewey FE, Jaquish CE, Papanicolaou GJ, Sotoodehnia N, Van Wagoner DR, Psaty BM, Kathiresan S, Darbar D, Alonso A, Heckbert SR, Chung MK, Roden DM, Benjamin EJ, Murray MF, Lunetta KL, Lubitz SA, Ellinor PT; DiscovEHR study and the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Choi SH, et al. Among authors: carey dj. JAMA. 2018 Dec 11;320(22):2354-2364. doi: 10.1001/jama.2018.18179. JAMA. 2018. PMID: 30535219 Free PMC article.
765 results