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194 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: lu jt. 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. Among authors: lu jt. Nat Med. 2020 Aug;26(8):1235-1239. doi: 10.1038/s41591-020-0982-5. Epub 2020 Jul 27. Nat Med. 2020. PMID: 32719484
Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States.
Washington NL, Gangavarapu K, Zeller M, Bolze A, Cirulli ET, Schiabor Barrett KM, Larsen BB, Anderson C, White S, Cassens T, Jacobs S, Levan G, Nguyen J, Ramirez JM 3rd, Rivera-Garcia C, Sandoval E, Wang X, Wong D, Spencer E, Robles-Sikisaka R, Kurzban E, Hughes LD, Deng X, Wang C, Servellita V, Valentine H, De Hoff P, Seaver P, Sathe S, Gietzen K, Sickler B, Antico J, Hoon K, Liu J, Harding A, Bakhtar O, Basler T, Austin B, MacCannell D, Isaksson M, Febbo PG, Becker D, Laurent M, McDonald E, Yeo GW, Knight R, Laurent LC, de Feo E, Worobey M, Chiu CY, Suchard MA, Lu JT, Lee W, Andersen KG. Washington NL, et al. Among authors: lu jt. Cell. 2021 May 13;184(10):2587-2594.e7. doi: 10.1016/j.cell.2021.03.052. Epub 2021 Mar 30. Cell. 2021. PMID: 33861950 Free PMC article.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility.
van Blokland IV, Lanting P, Ori APS, Vonk JM, Warmerdam RCA, Herkert JC, Boulogne F, Claringbould A, Lopera-Maya EA, Bartels M, Hottenga JJ, Ganna A, Karjalainen J; Lifelines COVID-19 cohort study; COVID-19 Host Genetics Initiative; Hayward C, Fawns-Ritchie C, Campbell A, Porteous D, Cirulli ET, Schiabor Barrett KM, Riffle S, Bolze A, White S, Tanudjaja F, Wang X, Ramirez JM 3rd, Lim YW, Lu JT, Washington NL, de Geus EJC, Deelen P, Boezen HM, Franke LH. van Blokland IV, et al. Among authors: lu jt. PLoS One. 2021 Aug 11;16(8):e0255402. doi: 10.1371/journal.pone.0255402. eCollection 2021. PLoS One. 2021. PMID: 34379666 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: lu jt. 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.
194 results