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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
The global climate of land politics.
Franco JC, Borras SM Jr. Franco JC, et al. Among authors: borras sm jr. Globalizations. 2021 Sep 30;18(7):1277-1297. doi: 10.1080/14747731.2021.1979717. eCollection 2021. Globalizations. 2021. PMID: 34744514 Free PMC article.
Air monitoring by nanopore sequencing.
Reska T, Pozdniakova S, Borràs S, Perlas A, Sauerborn E, Cañas L, Schloter M, Rodó X, Wang Y, Winkler B, Schnitzler JP, Urban L. Reska T, et al. Among authors: borras s. ISME Commun. 2024 Jul 16;4(1):ycae099. doi: 10.1093/ismeco/ycae099. eCollection 2024 Jan. ISME Commun. 2024. PMID: 39081363 Free PMC article.
A history of the MetaSUB consortium: Tracking urban microbes around the globe.
Ryon KA, Tierney BT, Frolova A, Kahles A, Desnues C, Ouzounis C, Gibas C, Bezdan D, Deng Y, He D, Dias-Neto E, Elhaik E, Afshin E, Grills G, Iraola G, Suzuki H, Werner J, Udekwu K, Schriml L, Bhattacharyya M, Oliveira M, Zambrano MM, Hazrin-Chong NH, Osuolale O, Łabaj PP, Tiasse P, Rapuri S, Borras S, Pozdniakova S, Shi T, Sezerman U, Rodo X, Sezer ZH, Mason CE. Ryon KA, et al. Among authors: borras s. iScience. 2022 Oct 20;25(11):104993. doi: 10.1016/j.isci.2022.104993. eCollection 2022 Nov 18. iScience. 2022. PMID: 36299999 Free PMC article.
Rurally rooted cross-border migrant workers from Myanmar, Covid-19, and agrarian movements.
Borras SM Jr, Franco JC, Ra D, Kramer T, Kamoon M, Phyu P, Ju KK, Vervest P, Oo M, Shell KY, Soe TM, Dau Z, Phyu M, Poine MS, Jumper MP, Mon NS, Oo K, Thu K, Khine NK, Naing TT, Papa N, Htwe LH, Reang LH, Jay LP, Jai NS, Xu Y, Wang C, Ye J. Borras SM Jr, et al. Agric Human Values. 2022;39(1):315-338. doi: 10.1007/s10460-021-10262-6. Epub 2021 Sep 3. Agric Human Values. 2022. PMID: 34511717 Free PMC article.
39 results