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Ribosomal DNA copy number is associated with body mass in humans and other mammals.
Law PP, Mikheeva LA, Rodriguez-Algarra F, Asenius F, Gregori M, Seaborne RAE, Yildizoglu S, Miller JRC, Tummala H, Mesnage R, Antoniou MN, Li W, Tan Q, Hillman SL, Rakyan VK, Williams DJ, Holland ML. Law PP, et al. Among authors: tummala h. Nat Commun. 2024 Jun 12;15(1):5006. doi: 10.1038/s41467-024-49397-5. Nat Commun. 2024. PMID: 38866738 Free PMC article.
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H, Walne AJ, Badat M, Patel M, Walne AM, Alnajar J, Chow CC, Albursan I, Frost JM, Ballard D, Killick S, Szitányi P, Kelly AM, Raghavan M, Powell C, Raymakers R, Todd T, Mantadakis E, Polychronopoulou S, Pontikos N, Liao T, Madapura P, Hossain U, Vulliamy T, Dokal I. Tummala H, et al. EMBO Mol Med. 2024 Oct;16(10):2560-2582. doi: 10.1038/s44321-024-00118-x. Epub 2024 Aug 28. EMBO Mol Med. 2024. PMID: 39198715 Free PMC article.
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: tummala h. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T. Tummala H, et al. Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7777-7782. doi: 10.1073/pnas.1803275115. Epub 2018 Jul 9. Proc Natl Acad Sci U S A. 2018. PMID: 29987015 Free PMC article.
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. Am J Hum Genet. 2024 Jul 11;111(7):1494. doi: 10.1016/j.ajhg.2024.05.022. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866021 Free article. No abstract available.
62 results