| Poly (A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita H Tummala, A Walne, L Collopy, S Cardoso, J de la Fuente, S Lawson, ... The Journal of clinical investigation 125 (5), 2151-2160, 2015 | 228 | 2015 |
| DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation H Tummala, AJ Walne, M Williams, N Bockett, L Collopy, S Cardoso, ... The American Journal of Human Genetics 99 (1), 115-124, 2016 | 120 | 2016 |
| The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants A Rio-Machin, T Vulliamy, N Hug, A Walne, K Tawana, S Cardoso, ... Nature communications 11 (1), 1044, 2020 | 93 | 2020 |
| ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function H Tummala, M Kirwan, AJ Walne, U Hossain, N Jackson, C Pondarre, ... The American Journal of Human Genetics 94 (2), 246-256, 2014 | 75 | 2014 |
| Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia SR Cardoso, G Ryan, AJ Walne, A Ellison, R Lowe, H Tummala, ... Leukemia 30 (10), 2083-2086, 2016 | 71 | 2016 |
| GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML AF Al Seraihi, A Rio-Machin, K Tawana, C Bödör, J Wang, A Nagano, ... Leukemia 32 (11), 2502-2507, 2018 | 68 | 2018 |
| Triallelic and epigenetic-like inheritance in human disorders of telomerase LC Collopy, AJ Walne, S Cardoso, J de la Fuente, M Mohamed, H Toriello, ... Blood, The Journal of the American Society of Hematology 126 (2), 176-184, 2015 | 56 | 2015 |
| Mutation in the Guanine Nucleotide–Binding Protein β-3 Causes Retinal Degeneration and Embryonic Mortality in Chickens H Tummala, M Ali, P Getty, PM Hocking, DW Burt, CF Inglehearn, ... Investigative ophthalmology & visual science 47 (11), 4714-4718, 2006 | 51 | 2006 |
| Targeting ATM pathway for therapeutic intervention in cancer HS Khalil, H Tummala, S Chakarov, N Zhelev, DP Lane Biodiscovery 1, e8920, 2012 | 45 | 2012 |
| Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis AJ Walne, L Collopy, S Cardoso, A Ellison, V Plagnol, C Albayrak, ... Haematologica 101 (10), 1180, 2016 | 44 | 2016 |
| Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants H Tummala, AD Dokal, A Walne, A Ellison, S Cardoso, ... Proceedings of the National Academy of Sciences 115 (30), 7777-7782, 2018 | 41 | 2018 |
| Pharmacological inhibition of ATM by KU55933 stimulates ATM transcription HS Khalil, H Tummala, TR Hupp, N Zhelev Experimental Biology and Medicine 237 (6), 622-634, 2012 | 34 | 2012 |
| The biology and management of dyskeratosis congenita and related disorders of telomeres H Tummala, A Walne, I Dokal Expert review of hematology 15 (8), 685-696, 2022 | 32 | 2022 |
| ATM in focus: A damage sensor and cancer target HS Khalil, H Tummala, N Zhelev Biodiscovery 5, e8936, 2012 | 32 | 2012 |
| Inherited bone marrow failure in the pediatric patient I Dokal, H Tummala, T Vulliamy Blood, The Journal of the American Society of Hematology 140 (6), 556-570, 2022 | 29 | 2022 |
| Rapid dendritic and axonal responses to neuronal insults SM Mizielinska, SM Greenwood, H Tummala, CN Connolly Biochemical Society Transactions 37 (6), 1389-1393, 2009 | 29 | 2009 |
| Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease A Walne, H Tummala, A Ellison, S Cardoso, J Sidhu, G Sciuccati, ... Haematologica 103 (7), e284, 2018 | 21 | 2018 |
| Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies SR Cardoso, ACM Ellison, AJ Walne, D Cassiman, M Raghavan, ... Haematologica 102 (8), e293, 2017 | 20 | 2017 |
| Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes H Tummala, LC Collopy, AJ Walne, A Ellison, S Cardoso, T Aksu, N Yarali, ... Blood, The Journal of the American Society of Hematology 132 (12), 1349-1353, 2018 | 19 | 2018 |
| The D153del mutation in GNB3 gene causes tissue specific signalling patterns and an abnormal renal morphology in Rge chickens H Tummala, S Fleming, PM Hocking, D Wehner, Z Naseem, M Ali, ... PloS one 6 (8), e21156, 2011 | 16 | 2011 |
Jude FitzgibbonQueen Mary University of London在 qmul.ac.uk 的电子邮件经过验证
