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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z, Calpena E, Pei Y, Tooze RS, Brittain H, Twigg SRF, Cilliers D, Morton JEV, McCann E, Weber A, Wilson LC, Douglas AGL, McGowan R, Need A, Bond A, Tavares ALT, Thomas ERA; Genomics England Research Consortium; Hill SL, Deans ZC, Boardman-Pretty F, Caulfield M, Scott RH, Wilkie AOM. Hyder Z, et al. Among authors: pei y. Genet Med. 2021 Dec;23(12):2360-2368. doi: 10.1038/s41436-021-01297-5. Epub 2021 Aug 25. Genet Med. 2021. PMID: 34429528 Free PMC article.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT. Moore AR, et al. Among authors: pei y. J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362. J Med Genet. 2023. PMID: 37558402 Free PMC article.
First Observation of a Three-Resonance Structure in e^{+}e^{-}→Nonopen Charm Hadrons.
Ablikim M, Achasov MN, Adlarson P, Ai XC, Aliberti R, Amoroso A, An MR, An Q, Bai Y, Bakina O, Balossino I, Ban Y, Batozskaya V, Begzsuren K, Berger N, Berlowski M, Bertani M, Bettoni D, Bianchi F, Bianco E, Bortone A, Boyko I, Briere RA, Brueggemann A, Cai H, Cai X, Calcaterra A, Cao GF, Cao N, Cetin SA, Chang JF, Chang TT, Chang WL, Che GR, Chelkov G, Chen C, Chen C, Chen G, Chen HS, Chen ML, Chen SJ, Chen SM, Chen T, Chen XR, Chen XT, Chen YB, Chen YQ, Chen ZJ, Cheng WS, Choi SK, Chu X, Cibinetto G, Coen SC, Cossio F, Cui JJ, Dai HL, Dai JP, Dbeyssi A, de Boer RE, Dedovich D, Deng ZY, Denig A, Denysenko I, Destefanis M, De Mori F, Ding B, Ding XX, Ding Y, Ding Y, Dong J, Dong LY, Dong MY, Dong X, Du MC, Du SX, Duan ZH, Egorov P, Fan YL, Fang J, Fang SS, Fang WX, Fang Y, Farinelli R, Fava L, Feldbauer F, Felici G, Feng CQ, Feng JH, Fischer K, Fritsch M, Fritzsch C, Fu CD, Fu JL, Fu YW, Gao H, Gao YN, Gao Y, Garbolino S, Garzia I, Ge PT, Ge ZW, Geng C, Gersabeck EM, Gilman A, Goetzen K, Gong L, Gong WX, Gradl W, Gramigna S, Greco M, Gu MH, Gu YT, Guan CY, Guan ZL, Guo AQ, Guo LB, Guo MJ, Guo RP, Guo YP, Guskov A, Han TT, Han WY, Hao XQ, Harris FA, He KK, He KL, Heinsius FHH, Hein… See abstract for full author list ➔ Ablikim M, et al. Among authors: pei yp. Phys Rev Lett. 2024 May 10;132(19):191902. doi: 10.1103/PhysRevLett.132.191902. Phys Rev Lett. 2024. PMID: 38804946
3,473 results