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1 . Academic Journal
Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes
저자
by
Walne, Amanda J.
;
Vulliamy, Tom
;
Bewicke-Copley, Findlay
;
Wang, Jun
;
Alnajar, Jenna
, et al.
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In
Blood Advances
14 December 2021 5(23):5360-5371
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7 . Academic Journal
Triallelic and epigenetic-like inheritance in human disorders of telomerase
저자
by
Collopy, Laura C.
;
Walne, Amanda J.
;
Cardoso, Shirleny
;
de la Fuente, Josu
;
Mohamed, Mahfuzah
, et al.
소스
In
Blood
9 July 2015 126(2):176-184
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7 . Academic Journal
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
저자
by
Walne, Amanda J.
;
Vulliamy, Tom
;
Beswick, Richard
;
Kirwan, Michael
;
Dokal, Inderjeet
.
소스
In
Blood
1 November 2008 112(9):3594-3600
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7 . Academic Journal
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes
저자
by
Tummala, Hemanth
;
Collopy, Laura C.
;
Walne, Amanda J.
;
Ellison, Alicia
;
Cardoso, Shirleny
, et al.
소스
In
Blood
20 September 2018 132(12):1349-1353
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7 . Academic Journal
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
저자
by
Norris, Kevin
;
Walne, Amanda J.
;
Ponsford, Mark J.
;
Cleal, Kez
;
Grimstead, Julia W.
, et al.
소스
Human Genetics
. Jun2021, Vol. 140 Issue 6, p945-955. 11p.
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7 . Academic Journal
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
저자
by
Tummala, Hemanth
;
Walne, Amanda J.
;
Bewicke-Copley, Findlay
;
Ellison, Alicia
;
Pontikos, Nikolas
, et al.
소스
Proceedings of the National Academy of Sciences of the United States of America
. 7/21/2020, Vol. 117 Issue 29, p17151-17155. 5p.
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7 . Academic Journal
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
저자
by
Tummala, Hemanth
;
Walne, Amanda J.
;
Williams, Mike
;
Bockett, Nicholas
;
Collopy, Laura
, et al.
소스
American Journal of Human Genetics
. Jul2016, Vol. 99 Issue 1, p115-124. 10p.
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7 . Academic Journal
Defective Telomerase in Familial Myelodysplasia and Leukemia
저자
by
Kirwan, Michael
;
Vulliamy, Tom
;
Walne, Amanda J.
;
Beswick, Richard
;
Hillmen, Peter
, et al.
소스
In
Blood
16 November 2008 112(11):849-849
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7 . Academic Journal
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita.
저자
by
Walne, Amanda J.
;
Vulliamy, Tom
;
Kirwan, Michael
;
Plagnol, Vincent
;
Dokal, Inderjeet
.
소스
American Journal of Human Genetics
. Mar2013, Vol. 92 Issue 3, p448-453. 6p.
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7 . Academic Journal
Dyskeratosis congenita and the DNA damage response
저자
by
Kirwan, Michael
;
Beswick, Richard
;
Walne, Amanda J.
;
Hossain, Upal
;
Casimir, Colin
, et al.
소스
British Journal of Haematology
. Jun 01, 2011 153(5):634-643
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