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1982 1
2000 1
2016 2
2019 1
2020 1
2021 2
2022 1
2023 1
2024 1

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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
EnvR is a potent repressor of acrAB transcription in Salmonella.
Blair JMA, Siasat P, McNeil HE, Colclough A, Ricci V, Lawler AJ, Abdalaal H, Buckner MMC, Baylay A, Busby SJ, Piddock LJV. Blair JMA, et al. J Antimicrob Chemother. 2022 Dec 23;78(1):133-140. doi: 10.1093/jac/dkac364. J Antimicrob Chemother. 2022. PMID: 36308324 Free PMC article.
Adaptive Randomization of Neratinib in Early Breast Cancer.
Park JW, Liu MC, Yee D, Yau C, van 't Veer LJ, Symmans WF, Paoloni M, Perlmutter J, Hylton NM, Hogarth M, DeMichele A, Buxton MB, Chien AJ, Wallace AM, Boughey JC, Haddad TC, Chui SY, Kemmer KA, Kaplan HG, Isaacs C, Nanda R, Tripathy D, Albain KS, Edmiston KK, Elias AD, Northfelt DW, Pusztai L, Moulder SL, Lang JE, Viscusi RK, Euhus DM, Haley BB, Khan QJ, Wood WC, Melisko M, Schwab R, Helsten T, Lyandres J, Davis SE, Hirst GL, Sanil A, Esserman LJ, Berry DA; I-SPY 2 Investigators. Park JW, et al. N Engl J Med. 2016 Jul 7;375(1):11-22. doi: 10.1056/NEJMoa1513750. N Engl J Med. 2016. PMID: 27406346 Free PMC article. Clinical Trial.
Adaptive Randomization of Veliparib-Carboplatin Treatment in Breast Cancer.
Rugo HS, Olopade OI, DeMichele A, Yau C, van 't Veer LJ, Buxton MB, Hogarth M, Hylton NM, Paoloni M, Perlmutter J, Symmans WF, Yee D, Chien AJ, Wallace AM, Kaplan HG, Boughey JC, Haddad TC, Albain KS, Liu MC, Isaacs C, Khan QJ, Lang JE, Viscusi RK, Pusztai L, Moulder SL, Chui SY, Kemmer KA, Elias AD, Edmiston KK, Euhus DM, Haley BB, Nanda R, Northfelt DW, Tripathy D, Wood WC, Ewing C, Schwab R, Lyandres J, Davis SE, Hirst GL, Sanil A, Berry DA, Esserman LJ; I-SPY 2 Investigators. Rugo HS, et al. N Engl J Med. 2016 Jul 7;375(1):23-34. doi: 10.1056/NEJMoa1513749. N Engl J Med. 2016. PMID: 27406347 Free PMC article. Clinical Trial.
Pharmacist led homeless outreach engagement and non-medical independent prescribing (Rx) (PHOENIx) intervention for people experiencing homelessness: a non- randomised feasibility study.
Lowrie R, Stock K, Lucey S, Knapp M, Williamson A, Montgomery M, Lombard C, Maguire D, Allan R, Blair R, Paudyal V, Mair FS. Lowrie R, et al. Int J Equity Health. 2021 Jan 7;20(1):19. doi: 10.1186/s12939-020-01337-7. Int J Equity Health. 2021. PMID: 33413396 Free PMC article.
Patents and literature.
Smith JA, Luenser SJ, Olson NF, Magee EL, Olivieri R, Viglia A, Degen L, Angelini L, Fascetti E, Miwa N, Masuda Y, Kawarabuki S, Sai T, Saito T, Busby MG, Hartwig DW, Heady R, Yagi Y, Kouno K, Inui T, Marshall JJ, Thomson AR, Miles BJ, Caygill JC, Moore DJ, Nakamura K, Nankai S, Iijima T, Ooshima Y, Baldeschwieler JD, Gamble RC, Mauk MR, Shen TY, Ponpipom MM, Khachatourians GG, Zaffaroni P, Senni A, Formiconi L, Blair JE, Davis LT, Cabane B, Vergnault J, Volesky B, Tsezos M, Bull FG, Messing RA, Ahnell JE, Chen LF, Gong CS, Tsao GT, Katsumata R, Green S, Leiser RS, Fedde PA, Ghosh S, Henry MP, Klass DL, Uemura Y, Arimura H, Morise H, Funakoshi S, Suyama T, Lützen NW, Kita DA, Fenton DM, Maclennan DG, Ousby JC, Owen TR, Steer DC, Araujo FJ, Calderon IL, Diaz IL, Olmedo C, Rebeller M, Yout P, Lonchamp D, Mynatt RL, Berg A, Eckmayer Z, Maselli JA, Horwath RO, Gotou E, Satou K, Wu RJ, Bahl CP, Narang SA, Hershberger CL, Baxter JD, Roberts JL, Seeburg PH, Goodman HM, Tsuchida T. Smith JA, et al. Appl Biochem Biotechnol. 1982 Nov;7(6):497-510. doi: 10.1007/BF02799180. Appl Biochem Biotechnol. 1982. PMID: 24234462 No abstract available.
First search for gravitational wave bursts with a network of detectors.
Allen ZA, Astone P, Baggio L, Busby D, Bassan M, Blair DG, Bonaldi M, Bonifazi P, Carelli P, Cerdonio M, Coccia E, Conti L, Cosmelli C, Crivelli Visconti V, D'Antonio S, Fafone V V, Falferi P, Fortini P, Frasca S, Hamilton WO, Heng IS, Ivanov EN, Johnson WW, Kingham M, Locke CR, Marini A. Allen ZA, et al. Phys Rev Lett. 2000 Dec 11;85(24):5046-50. doi: 10.1103/PhysRevLett.85.5046. Phys Rev Lett. 2000. PMID: 11102183