|
๐
|
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
13 auth.
H. Tummala,
A. Walne,
L. Collopy,
S. Cardoso,
J. de la Fuente,
S. Lawson,
J. Powell,
N. Cooper,
Alison C. Foster,
S. Mohammed,
...
V. Plagnol,
T. Vulliamy,
I. Dokal
|
7 |
2015 |
7
๐
|
|
๐
|
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
16 auth.
H. Tummala,
A. Walne,
Mike Williams,
N. Bockett,
L. Collopy,
S. Cardoso,
A. Ellison,
R. Wynn,
T. Leblanc,
J. Fitzgibbon,
...
D. Kelsell,
D. V. van Heel,
Elspeth M. Payne,
V. Plagnol,
I. Dokal,
T. Vulliamy
|
6 |
2016 |
6
๐
|
|
๐
|
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 Bรถdรถr,
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. Nomdedรฉu,
Carolyn Owen,
J. Pavlลฏ,
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. Cรกceres,
J. Fitzgibbon,
I. Dokal
|
6 |
2020 |
6
๐
|
|
๐ฆ
|
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia
15 auth.
S. Cardoso,
G. Ryan,
A. Walne,
A. Ellison,
R. Lowe,
H. Tummala,
A. Rio-Machin,
L. Collopy,
Ahad Al Seraihi,
Y. Wallis,
...
P. Page,
S. Akiki,
J. Fitzgibbon,
T. Vulliamy,
I. Dokal
|
5 |
2016 |
5
๐ฆ
|
|
๐
|
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
25 auth.
Ahad Al Seraihi,
A. Rio-Machin,
K. Tawana,
C. Bรถdรถr,
Jun Wang,
A. Nagano,
J. Heward,
S. Iqbal,
S. Best,
N. Lea,
Donal McLornan,
E. Kozyra,
M. Wlodarski,
C. Niemeyer,
H. Scott,
...
C. Hahn,
A. Ellison,
H. Tummala,
S. Cardoso,
T. Vulliamy,
I. Dokal,
Tom Butler,
Matthew L. Smith,
J. Cavenagh,
J. Fitzgibbon
|
5 |
2018 |
5
๐
|
|
๐
|
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
13 auth.
L. Collopy,
A. Walne,
S. Cardoso,
J. de la Fuente,
Mahfuzah Mohamed,
H. Toriello,
H. Tamary,
Adam J Y V Ling,
Timothy Lloyd,
Rebecca Kassam,
...
H. Tummala,
T. Vulliamy,
I. Dokal
|
5 |
2015 |
5
๐
|
|
๐
|
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
18 auth.
A. Walne,
L. Collopy,
S. Cardoso,
A. Ellison,
V. Plagnol,
C. Albayrak,
D. Albayrak,
S. Kilic,
T. Patiroglu,
H. Akar,
...
K. Godfrey,
Tina L Carter,
M. Marafie,
A. Vora,
M. Sundin,
T. Vulliamy,
H. Tummala,
I. Dokal
|
5 |
2016 |
5
๐
|
|
๐
|
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants
23 auth.
H. Tummala,
Arran D. Dokal,
A. Walne,
A. Ellison,
S. Cardoso,
Saranha Amirthasigamanipillai,
M. Kirwan,
I. Browne,
J. Sidhu,
V. Rajeeve,
...
A. Rio-Machin,
Ahad Al Seraihi,
A. Duncombe,
M. Jenner,
O. Smith,
H. Enright,
A. Norton,
T. Aksu,
N. รzbek,
Nikolas Pontikos,
P. Cutillas,
I. Dokal,
T. Vulliamy
|
5 |
2018 |
5
๐
|
|
๐ฆ
|
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
15 auth.
S. Cardoso,
A. Ellison,
A. Walne,
D. Cassiman,
M. Raghavan,
B. Kishore,
P. Ancliff,
C. Rodrรญguez-Vigil,
Bieke Dobbels,
A. Rio-Machin,
...
Ahad Al Seraihi,
Nikolas Pontikos,
H. Tummala,
T. Vulliamy,
I. Dokal
|
4 |
2017 |
4
๐ฆ
|
