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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
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.
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.
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.
SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads.
Bolze A, Luo S, White S, Cirulli ET, Wyman D, Dei Rossi A, Machado H, Cassens T, Jacobs S, Schiabor Barrett KM, Tanudjaja F, Tsan K, Nguyen J, Ramirez JM 3rd, Sandoval E, Wang X, Wong D, Becker D, Laurent M, Lu JT, Isaksson M, Washington NL, Lee W. Bolze A, et al. Among authors: lu jt. Cell Rep Med. 2022 Mar 15;3(3):100564. doi: 10.1016/j.xcrm.2022.100564. eCollection 2022 Mar 15. Cell Rep Med. 2022. PMID: 35474739 Free PMC article.
195 results