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DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, Vulliamy T. Tummala H, et al. Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23. Am J Hum Genet. 2016. PMID: 27346687 Free PMC article.
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T. Dokal I, et al. Among authors: tummala h. Blood. 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. Blood. 2022. PMID: 35605178 Free PMC article.
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
Tummala H, Walne AJ, Bewicke-Copley F, Ellison A, Pontikos N, Bridger MG, Rio-Machin A, Sidhu JK, Wang J, Hasle H, Fitzgibbon J, Vulliamy T, Dokal I. Tummala H, et al. Proc Natl Acad Sci U S A. 2020 Jul 21;117(29):17151-17155. doi: 10.1073/pnas.2002857117. Epub 2020 Jul 7. Proc Natl Acad Sci U S A. 2020. PMID: 32636268 Free PMC article.
Long tails, short telomeres: Dyskeratosis congenita.
Tummala H, Walne AJ. Tummala H, et al. Oncotarget. 2015 Jun 10;6(16):13856-7. doi: 10.18632/oncotarget.4388. Oncotarget. 2015. PMID: 26116823 Free PMC article. No abstract available.
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.
Cardoso SR, Ryan G, Walne AJ, Ellison A, Lowe R, Tummala H, Rio-Machin A, Collopy L, Al Seraihi A, Wallis Y, Page P, Akiki S, Fitzgibbon J, Vulliamy T, Dokal I. Cardoso SR, et al. Among authors: tummala h. Leukemia. 2016 Oct;30(10):2083-2086. doi: 10.1038/leu.2016.124. Epub 2016 Jun 2. Leukemia. 2016. PMID: 27133828 Free PMC article. No abstract available.
54 results