Browsing Centre for Genomics and Child Health by Author "Tummala, H"
Now showing items 1-19 of 19
-
Acquired somatic variants in inherited myeloid malignancies
Armes, H; Rio-Machin, A; Krizsan, S; Bodor, C; Kaya, F; Bewicke-Copley, F; Alnajar, J; Walne, A; Peterffy, B; Tummala, H (2022) -
The biology and management of dyskeratosis congenita and related disorders of telomeres
Tummala, H; Walne, A; Dokal, I (2022) -
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 (2020-02-25) -
The D153del Mutation in GNB3 Gene Causes Tissue Specific Signalling Patterns and an Abnormal Renal Morphology in Rge Chickens
Tummala, H; Fleming, S; Hocking, PM; Wehner, D; Naseem, Z; Ali, M; Inglehearn, CF; Zhelev, N; Lester, DH (2011-08-22) -
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 (2016-07-07) -
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.
Walne, A; Tummala, H; Ellison, A; Cardoso, S; Sidhu, J; Sciuccati, G; Vulliamy, T; Dokal, I (2018-07) -
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 (2020-07-21) -
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 (2018-07-24) -
Genome wide whole blood transcriptome profiling across inherited bone marrow failure subtypes.
Walne, AJ; Vulliamy, TJ; Bewicke-Copley, F; Wang, J; Alnajar, J; Bridger, MG; Ma, B; Tummala, H; Dokal, I (2021-10-08)Gene expression profiling has long been used in understanding the contribution of genes and related pathways in disease pathogenesis and susceptibility. We have performed whole blood transcriptomic profiling in a subset ... -
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment
Armes, H; Bewicke-Copley, F; Rio-Machin, A; Di Bella, D; Philippe, C; Wozniak, A; Tummala, H; Wang, J; Ezponda, T; Prosper, F (2022) -
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 (2016-10) -
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 (2022) -
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; Akata, RF; Teo, J (2018-09-20) -
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; Akata, RF; Teo, J (American Society of Hematology, 2018-09-20)Dyskeratosis congenita (DC) and its severe form, Hoyeraal-Hreidarsson syndrome (HHS), are rare and have life-threatening failure of hematopoiesis. Typically, DC patients present with disease features such as nail dystrophy, ... -
<i>GATA2</i> monoallelic expression underlies reduced penetrance in inherited <i>GATA2</i>-mutated MDS/AML
Al Seraihi, AF; Rio-Machin, A; Tawana, K; Bodor, C; Wang, J; Nagano, A; Heward, JA; Iqbal, S; Beset, S; Lea, N (2018) -
Inherited bone marrow failure in the pediatric patient
Dokal, I; Tummala, H; Vulliamy, T (2022) -
Long tails, short telomeres: Dyskeratosis congenita
Tummala, H; Walne, AJ (2015-06-10) -
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; Patiroglu, T; Akar, H (2016-10) -
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
Cardoso, SR; Ellison, ACM; Walne, AJ; Cassiman, D; Raghavan, M; Kishore, B; Ancliff, P; Rodriguez-Vigil, C; Dobbels, B; Rio-Machin, A (2017-08)