E-LIB Suche - Ergebnisse für: Vulliamy, Tom

1

Germline thymidylate synthase deficiency impacts nucleotide..:

Tummala, Hemanth ; Walne, Amanda ; Buccafusca, Roberto...
The American Journal of Human Genetics. , 2024

Link: https://doi.org/10.1016/..

2

P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Vari..:

Mohan, Shruthi ; Geck, Renee ; Fayer, Shawn...
Genetics in Medicine Open. 2 (2024) - p. 100885 , 2024

Link: https://doi.org/10.1016/..

3

Inherited bone marrow failure in the pediatric patient:

Dokal, Inderjeet ; Tummala, Hemanth ; Vulliamy, Tom
Blood. 140 (2022) 6 - p. 556-570 , 2022

Link: https://doi.org/10.1182/..

4

Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations ..:

Armes, Hannah ; Bewicke‐Copley, Findlay ; Rio‐Machin, Ana...
British Journal of Haematology. 199 (2022) 5 - p. 754-764 , 2022

Link: https://doi.org/10.1111/..

5

Germline thymidylate synthase deficiency impacts nucleotide..:

Tummala, Hemanth ; Walne, Amanda ; Buccafusca, Roberto...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1472-1483 , 2022

Link: https://doi.org/10.1016/..

6

Acquired somatic variants in inherited myeloid malignancies:

Armes, Hannah ; Rio-Machin, Ana ; Krizsán, Szilvia...
Leukemia. 36 (2022) 5 - p. 1377-1381 , 2022

Link: https://doi.org/10.1038/..

7

High-throughput STELA provides a rapid test for the diagnos..:

Norris, Kevin ; Walne, Amanda J. ; Ponsford, Mark J....
Human Genetics. 140 (2021) 6 - p. 945-955 , 2021

Link: https://doi.org/10.1007/..

8

Genome-wide whole-blood transcriptome profiling across inhe..:

Walne, Amanda J. ; Vulliamy, Tom ; Bewicke-Copley, Findlay...
Blood Advances. 5 (2021) 23 - p. 5360-5371 , 2021

Link: https://doi.org/10.1182/..

9

The complex genetic landscape of familial MDS and AML revea..:

Rio-Machin, Ana ; Vulliamy, Tom ; Hug, Nele...
Nature Communications. 11 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

10

A frameshift variant in specificity protein 1 triggers supe..:

Tummala, Hemanth ; Walne, Amanda J. ; Bewicke-Copley, Findlay...
Proceedings of the National Academy of Sciences. 117 (2020) 29 - p. 17151-17155 , 2020

Link: https://doi.org/10.1073/..

11

A frameshift variant in specificity protein 1 triggers supe..:

Tummala, Hemanth ; Walne, Amanda J. ; Bewicke-Copley, Findlay...
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 29 - p. 17151-17155 , 2020

Link: https://www.jstor.org/st..

12

Laboratory diagnosis of G6PD deficiency. A British Society ..:

Roper, David ; Layton, Mark ; Rees, David...
British Journal of Haematology. 189 (2020) 1 - p. 24-38 , 2020

Link: https://doi.org/10.1111/..

13

Germline NPM1 mutations lead to altered rRNA 2′-O-methylati..:

Nachmani, Daphna ; Bothmer, Anne H. ; Grisendi, Silvia...
Nature Genetics. 51 (2019) 10 - p. 1518-1529 , 2019

Link: https://doi.org/10.1038/..

14

ClinGen Myeloid Malignancy Variant Curation Expert Panel re..:

Luo, Xi ; Feurstein, Simone ; Mohan, Shruthi...
Blood Advances. 3 (2019) 20 - p. 2962-2979 , 2019

Link: https://doi.org/10.1182/..

15

Genome instability is a consequence of transcription defici..:

Tummala, Hemanth ; Dokal, Arran D. ; Walne, Amanda...
Proceedings of the National Academy of Sciences. 115 (2018) 30 - p. 7777-7782 , 2018

Link: https://doi.org/10.1073/..