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Page 1
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Among authors: alnajar j. Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. Am J Hum Genet. 2022. PMID: 35931051 Free PMC article.
Acquired somatic variants in inherited myeloid malignancies.
Armes H, Rio-Machin A, Krizsán S, Bödör C, Kaya F, Bewicke-Copley F, Alnajar J, Walne A, Péterffy B, Tummala H, Rouault-Pierre K, Dokal I, Vulliamy T, Fitzgibbon J. Armes H, et al. Among authors: alnajar j. Leukemia. 2022 May;36(5):1377-1381. doi: 10.1038/s41375-022-01515-2. Epub 2022 Feb 9. Leukemia. 2022. PMID: 35140362 Free PMC article. No abstract available.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. Rio-Machin A, et al. Among authors: alnajar j. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
Impact of radiologically stratified exacerbations: insights into pneumonia aetiology in COPD.
Williams NP, Ostridge K, Devaster JM, Kim V, Coombs NA, Bourne S, Clarke SC, Harden S, Abbas A, Aris E, Lambert C, Tuck A, Williams A, Wootton S, Staples KJ, Wilkinson TMA; AERIS Study Group. Williams NP, et al. Respir Res. 2018 Jul 28;19(1):143. doi: 10.1186/s12931-018-0842-8. Respir Res. 2018. PMID: 30055608 Free PMC article. Clinical Trial.
Longitudinal profiling of the lung microbiome in the AERIS study demonstrates repeatability of bacterial and eosinophilic COPD exacerbations.
Mayhew D, Devos N, Lambert C, Brown JR, Clarke SC, Kim VL, Magid-Slav M, Miller BE, Ostridge KK, Patel R, Sathe G, Simola DF, Staples KJ, Sung R, Tal-Singer R, Tuck AC, Van Horn S, Weynants V, Williams NP, Devaster JM, Wilkinson TMA; AERIS Study Group. Mayhew D, et al. Thorax. 2018 May;73(5):422-430. doi: 10.1136/thoraxjnl-2017-210408. Epub 2018 Jan 31. Thorax. 2018. PMID: 29386298 Free PMC article.