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

Year Number of Results
2006 1
2007 1
2008 1
2009 1
2010 1
2011 1
2012 3
2014 3
2015 1
2017 2
2018 1
2019 4
2020 6
2021 5
2022 3
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33 results
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Page 1
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
Bonnefond A, Boissel M, Bolze A, Durand E, Toussaint B, Vaillant E, Gaget S, Graeve F, Dechaume A, Allegaert F, Guilcher DL, Yengo L, Dhennin V, Borys JM, Lu JT, Cirulli ET, Elhanan G, Roussel R, Balkau B, Marre M, Franc S, Charpentier G, Vaxillaire M, Canouil M, Washington NL, Grzymski JJ, Froguel P. Bonnefond A, et al. Among authors: grzymski jj. Nat Metab. 2020 Oct;2(10):1126-1134. doi: 10.1038/s42255-020-00294-3. Epub 2020 Oct 12. Nat Metab. 2020. PMID: 33046911 Free article.
Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu JT. Grzymski JJ, et al. Nat Med. 2020 Aug;26(8):1235-1239. doi: 10.1038/s41591-020-0982-5. Epub 2020 Jul 27. Nat Med. 2020. PMID: 32719484
Inhibition of HECT E3 ligases as potential therapy for COVID-19.
Novelli G, Liu J, Biancolella M, Alonzi T, Novelli A, Patten JJ, Cocciadiferro D, Agolini E, Colona VL, Rizzacasa B, Giannini R, Bigio B, Goletti D, Capobianchi MR, Grelli S, Mann J, McKee TD, Cheng K, Amanat F, Krammer F, Guarracino A, Pepe G, Tomino C, Tandjaoui-Lambiotte Y, Uzunhan Y, Tubiana S, Ghosn J; COVID Human Genetic Effort; French COVID Cohort Study Group; CoV-Contact Cohort, Notarangelo LD, Su HC, Abel L, Cobat A, Elhanan G, Grzymski JJ, Latini A, Sidhu SS, Jain S, Davey RA, Casanova JL, Wei W, Pandolfi PP. Novelli G, et al. Among authors: grzymski jj. Cell Death Dis. 2021 Mar 24;12(4):310. doi: 10.1038/s41419-021-03513-1. Cell Death Dis. 2021. PMID: 33762578 Free PMC article.
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
Bononi A, Goto K, Ak G, Yoshikawa Y, Emi M, Pastorino S, Carparelli L, Ferro A, Nasu M, Kim JH, Suarez JS, Xu R, Tanji M, Takinishi Y, Minaai M, Novelli F, Pagano I, Gaudino G, Pass HI, Groden J, Grzymski JJ, Metintas M, Akarsu M, Morrow B, Hassan R, Yang H, Carbone M. Bononi A, et al. Among authors: grzymski jj. Proc Natl Acad Sci U S A. 2020 Dec 29;117(52):33466-33473. doi: 10.1073/pnas.2019652117. Epub 2020 Dec 14. Proc Natl Acad Sci U S A. 2020. PMID: 33318203 Free PMC article.
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.
Schiabor Barrett KM, Bolze A, Ni Y, White S, Isaksson M, Sharma L, Levin E, Lee W, Grzymski JJ, Lu JT, Washington NL, Cirulli ET. Schiabor Barrett KM, et al. Among authors: grzymski jj. Genet Med. 2021 Dec;23(12):2300-2308. doi: 10.1038/s41436-021-01293-9. Epub 2021 Aug 13. Genet Med. 2021. PMID: 34385667 Free PMC article.
33 results