S. Cardoso

发表

Identification of disease gene variants that can lead to familial myelodysplasia and acute myeloid leukaemia

S. Cardoso, 2018 .

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

D. Steinemann, Alison M. Male, J. Fitzgibbon, 2020, Nature Communications.

An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytes

G. Hitman, V. Rakyan, S. Finer, 2021, Epigenetics.

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

J. Fitzgibbon, T. Vulliamy, S. Akiki, 2016, Leukemia.

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

J. Fitzgibbon, T. Vulliamy, Nikolas Pontikos, 2018, Blood.

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

V. Plagnol, T. Vulliamy, S. Mohammed, 2015, The Journal of clinical investigation.

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

K. Godfrey, V. Plagnol, T. Vulliamy, 2016, Haematologica.

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

D. Kelsell, J. Fitzgibbon, V. Plagnol, 2016, American journal of human genetics.

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

D. Steinemann, Alison M. Male, J. Fitzgibbon, 2020, Nature Communications.

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

J. Fitzgibbon, T. Vulliamy, J. Cavenagh, 2018, Leukemia.

Variable Penetrance Is Linked with Monoallelic Gene Expression in Inherited GATA2-Mutated MDS/AML

J. Fitzgibbon, T. Vulliamy, J. Cavenagh, 2016 .

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

T. Vulliamy, Nikolas Pontikos, V. Rajeeve, 2018, Proceedings of the National Academy of Sciences.

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease

T. Vulliamy, I. Dokal, H. Tummala, 2018, Haematologica.

synostosis associated hematological disease Expanding the phenotypic and genetic spectrum of radioulnar Version 3 HAEMATOL / 2017 / 183855

T. Vulliamy, H. Tummala, S. Cardoso, 2018 .

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

T. Vulliamy, H. Tamary, H. Toriello, 2015, Blood.

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

T. Vulliamy, Nikolas Pontikos, D. Cassiman, 2017, Haematologica.

Myelodysplasia and liver disease extend the spectrum of RTEL 1 Version 3 HAEMATOL / 2017 / 167056

Inderjeet, T. Vulliamy, Nikolas Pontikos, 2017 .

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

J. Fitzgibbon, T. Vulliamy, Nikolas Pontikos, 2018, Blood.