|
🐜
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Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
8 auth.
M. Kirwan,
A. Walne,
V. Plagnol,
M. Velangi,
A. Ho,
Upal Hossain,
...
T. Vulliamy,
I. Dokal
|
6 |
2012 |
6
🐜
|
|
🐜
|
Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations
9 auth.
T. Vulliamy,
M. Kirwan,
R. Beswick,
Upal Hossain,
C. Baqai,
Anna Ratcliffe,
...
J. Marsh,
A. Walne,
I. Dokal
|
6 |
2011 |
6
🐜
|
|
🐬
|
Long‐haul flights and deep vein thrombosis: a significant risk only when additional factors are also present
R. Arya,
Jules A. Barnes,
Upal Hossain,
R. Patel,
A. Cohen
|
6 |
2002 |
6
🐬
|
|
🐬
|
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia
H. Holme,
Upal Hossain,
M. Kirwan,
A. Walne,
T. Vulliamy,
I. Dokal
|
6 |
2012 |
6
🐬
|
|
🐜
|
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
58 auth.
A. Rio-Machin,
T. Vulliamy,
N. Hug,
A. Walne,
K. Tawana,
S. Cardoso,
A. Ellison,
N. Pontikos,
Jun Wang,
H. Tummala,
Ahad Al Seraihi,
Jenna Alnajar,
Findlay Bewicke-Copley,
H. Armes,
Michael Barnett,
...
A. Bloor,
Csaba Bödör,
David T. Bowen,
P. Fenaux,
Andrew Green,
Andrew R. Hallahan,
Henrik Hjorth-Hansen,
Upal Hossain,
S. Killick,
Sarah Lawson,
Mark Layton,
Alison M. Male,
Judith Marsh,
Priyanka Mehta,
R. Mous,
J. Nomdedéu,
Carolyn Owen,
J. Pavlů,
Elspeth M. Payne,
R. Protheroe,
C. Preudhomme,
N. Pujol-Moix,
Aline Renneville,
Nigel Russell,
A. Saggar,
G. Sciuccati,
D. Taussig,
C. Toze,
A. Uyttebroeck,
P. Vandenberghe,
B. Schlegelberger,
T. Ripperger,
D. Steinemann,
John Wu,
J. Mason,
Paula Page,
S. Akiki,
K. Reay,
J. Cavenagh,
V. Plagnol,
J. Cáceres,
J. Fitzgibbon,
I. Dokal
|
6 |
2020 |
6
🐜
|
|
🐜
|
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
9 auth.
H. Tummala,
M. Kirwan,
A. Walne,
Upal Hossain,
N. Jackson,
C. Pondarré,
...
V. Plagnol,
T. Vulliamy,
I. Dokal
|
6 |
2014 |
6
🐜
|
|
🐬
|
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2
T. Vulliamy,
R. Beswick,
M. Kirwan,
Upal Hossain,
A. Walne,
I. Dokal
|
5 |
2012 |
5
🐬
|
|
🐜
|
Dyskeratosis congenita and the DNA damage response
7 auth.
M. Kirwan,
R. Beswick,
A. Walne,
Upal Hossain,
C. Casimir,
T. Vulliamy,
...
I. Dokal
|
5 |
2011 |
5
🐜
|
|
🐜
|
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
25 auth.
H. Tummala,
A. Walne,
M. Badat,
Manthan Patel,
A. Walne,
Jenna Alnajar,
Chi Ching Chow,
Ibtehal Albursan,
J. Frost,
David Ballard,
Sally Killick,
Peter Szitányi,
Anne M Kelly,
Manoj Raghavan,
Corrina Powell,
...
Reinier A P Raymakers,
Tony Todd,
E. Mantadakis,
Sophia Polychronopoulou,
N. Pontikos,
Tianyi Liao,
Pradeepa Madapura,
Upal Hossain,
T. Vulliamy,
I. Dokal
|
2 |
2024 |
2
🐜
|
