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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I. Tummala H, et al. Among authors: vulliamy t. Blood. 2018 Sep 20;132(12):1349-1353. doi: 10.1182/blood-2018-03-837799. Epub 2018 Jul 31. Blood. 2018. PMID: 30064976 Free PMC article. No abstract available.
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Collopy LC, Walne AJ, Cardoso S, de la Fuente J, Mohamed M, Toriello H, Tamary H, Ling AJ, Lloyd T, Kassam R, Tummala H, Vulliamy TJ, Dokal I. Collopy LC, et al. Among authors: vulliamy tj. Blood. 2015 Jul 9;126(2):176-84. doi: 10.1182/blood-2015-03-633388. Epub 2015 May 29. Blood. 2015. PMID: 26024875 Free PMC article.
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T. Dokal I, et al. Among authors: vulliamy t. Blood. 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. Blood. 2022. PMID: 35605178 Free PMC article.
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I. Walne AJ, et al. Among authors: vulliamy t. Haematologica. 2016 Oct;101(10):1180-1189. doi: 10.3324/haematol.2016.147769. Epub 2016 Sep 9. Haematologica. 2016. PMID: 27612988 Free PMC article.
168 results