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

Year Number of Results
1956 1
1967 1
1972 4
1973 1
1974 1
1975 1
1979 1
1982 1
1983 1
1984 1
1985 4
1986 1
1988 1
1999 4
2000 5
2001 2
2002 3
2003 3
2005 2
2006 2
2007 3
2008 1
2009 2
2010 1
2011 2
2012 2
2013 7
2014 14
2015 17
2016 6
2017 11
2018 11
2019 14
2020 24
2021 26
2022 15
2023 12
2024 15

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194 results

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Page 1
The mutational constraint spectrum quantified from variation in 141,456 humans.
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME; Genome Aggregation Database Consortium; Neale BM, Daly MJ, MacArthur DG. Karczewski KJ, et al. Among authors: england em. Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27. Nature. 2020. PMID: 32461654 Free PMC article.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Among authors: england em. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA. Qian X, et al. Among authors: england e. Dev Cell. 2022 Oct 24;57(20):2381-2396.e13. doi: 10.1016/j.devcel.2022.09.011. Epub 2022 Oct 12. Dev Cell. 2022. PMID: 36228617 Free PMC article.
Tozorakimab (MEDI3506): an anti-IL-33 antibody that inhibits IL-33 signalling via ST2 and RAGE/EGFR to reduce inflammation and epithelial dysfunction.
England E, Rees DG, Scott IC, Carmen S, Chan DTY, Chaillan Huntington CE, Houslay KF, Erngren T, Penney M, Majithiya JB, Rapley L, Sims DA, Hollins C, Hinchy EC, Strain MD, Kemp BP, Corkill DJ, May RD, Vousden KA, Butler RJ, Mustelin T, Vaughan TJ, Lowe DC, Colley C, Cohen ES. England E, et al. Sci Rep. 2023 Jun 17;13(1):9825. doi: 10.1038/s41598-023-36642-y. Sci Rep. 2023. PMID: 37330528 Free PMC article.
Hope and physical health.
Rasmussen HN, England E, Cole BP. Rasmussen HN, et al. Among authors: england e. Curr Opin Psychol. 2023 Feb;49:101549. doi: 10.1016/j.copsyc.2022.101549. Epub 2022 Dec 24. Curr Opin Psychol. 2023. PMID: 36640676 Review.
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).
Zampaglione E, Maher M, Place EM, Wagner NE, DiTroia S, Chao KR, England E, Cmg B, Catomeris A, Nassiri S, Himes S, Pagliarulo J, Ferguson C, Galdikaité-Braziené E, Cole B, Pierce EA, Bujakowska KM. Zampaglione E, et al. Among authors: england e. Genet Med. 2022 Feb;24(2):332-343. doi: 10.1016/j.gim.2021.09.015. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906470 Free PMC article.
Erdheim-chester disease.
Murray D, Marshall M, England E, Mander J, Chakera TM. Murray D, et al. Among authors: england e. Clin Radiol. 2001 Jun;56(6):481-4. doi: 10.1053/crad.2001.0681. Clin Radiol. 2001. PMID: 11428798 Review.
Nutrition: Macronutrients.
Cheng C, England E. Cheng C, et al. Among authors: england e. FP Essent. 2024 Apr;539:7-12. FP Essent. 2024. PMID: 38648169
Nutrition: Micronutrients.
England E, Cheng C. England E, et al. FP Essent. 2024 Apr;539:13-17. FP Essent. 2024. PMID: 38648170
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Singer-Berk M, et al. Among authors: england e. Am J Hum Genet. 2023 Sep 7;110(9):1496-1508. doi: 10.1016/j.ajhg.2023.08.005. Epub 2023 Aug 25. Am J Hum Genet. 2023. PMID: 37633279 Free PMC article.
194 results