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The molecular pathogenesis of the NUP98-HOXA9 fusion protein in acute myeloid leukemia

Leukemia, 2017-09, Vol.31 (9), p.2000-2005

2017

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Downregulation of specific miRNAs in hyperdiploid multiple myeloma mimics the oncogenic effect of IgH translocations occurring in the non-hyperdiploid subtype

Leukemia, 2013-04, Vol.27 (4), p.925-931

2013

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

Leukemia, 2016-10, Vol.30 (10), p.2083-2086

2016

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Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t(4;21)(q21;q22)

Haematologica (Roma), 2012-04, Vol.97 (4), p.534-537

2012

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Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells

Leukemia, 2017-12

2017

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GATA2 deficiency syndrome: A compensatory mechanism gone awry?

British journal of haematology, 2024-08, Vol.205 (2), p.411-413

Rio-Machin, Ana

2024

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ATM serine/threonine kinase germline mutations in chronic lymphocytic leukaemia come in different flavours

British journal of haematology, 2022-11, Vol.199 (3), p.307-309

Rio‐Machin, Ana

2022

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DDX41: the poster child for familial AML

Blood, 2022-08, Vol.140 (7), p.667-669

2022

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AML through the prism of molecular genetics

British journal of haematology, 2020-01, Vol.188 (1), p.49-62

2020

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BPTF is required for c-MYC transcriptional activity and in vivo tumorigenesis

Nature communications, 2016-01, Vol.7 (1), p.10153-15, Article 10153

2016

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Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group

British journal of haematology, 2023-04, Vol.201 (1), p.25-34

2023

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Endogenous retroviruses are a source of enhancers with oncogenic potential in acute myeloid leukaemia

Nature communications, 2020-07, Vol.11 (1), p.3506-3506, Article 3506

2020

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Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

British journal of haematology, 2022-12, Vol.199 (5), p.754-764

2022

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Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma

Leukemia, 2018-05, Vol.32 (5), p.1261-1265

2018

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Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene

JNCI : Journal of the National Cancer Institute, 2015-05, Vol.107 (5), p.1

2015

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Transmission of diffuse large B-cell lymphoma by an allogeneic stem-cell transplant

Haematologica (Roma), 2019-04, Vol.104 (4), p.e174-e177

2019

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Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

Haematologica (Roma), 2017-08, Vol.102 (8), p.e293-e296

2017

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SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS

EJC paediatric oncology, 2023-12, Vol.2, p.100042, Article 100042

2023

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MAPK8‐mediated stabilization of SP1 is essential for RUNX1‐RUNX1T1 – driven leukaemia

British journal of haematology, 2016-03, Vol.172 (5), p.807-810

2016

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Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes

Signal transduction and targeted therapy, 2023-02, Vol.8 (1), p.80-80, Article 80

2023

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Differentially expressed small RNAs in Arabidopsis galls formed by Meloidogyne javanica: a functional role for miR390 and its TAS3‐derived tasiRNAs

The New phytologist, 2016-03, Vol.209 (4), p.1625-1640

2016

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Germline ETV6 variants: not ALL created equally

Blood, 2021-01, Vol.137 (3), p.288-289

2021

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Familial CEBPA -mutated acute myeloid leukemia

Seminars in hematology, 2017-04, Vol.54 (2), p.87-93

2017

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

Nature communications, 2020-02, Vol.11 (1), p.1044-12, Article 1044

2020

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A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation

RNA (Cambridge), 2022-09, Vol.28 (9), p.1224-1238

2022

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The molecular pathogenesis of the NUP98-HOXA9 fusion protein in acute myeloid leukemia

Downregulation of specific miRNAs in hyperdiploid multiple myeloma mimics the oncogenic effect of IgH translocations occurring in the non-hyperdiploid subtype

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

Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t(4;21)(q21;q22)

Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells

GATA2 deficiency syndrome: A compensatory mechanism gone awry?

ATM serine/threonine kinase germline mutations in chronic lymphocytic leukaemia come in different flavours

DDX41: the poster child for familial AML

AML through the prism of molecular genetics

BPTF is required for c-MYC transcriptional activity and in vivo tumorigenesis

Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group

Endogenous retroviruses are a source of enhancers with oncogenic potential in acute myeloid leukaemia

Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene

Transmission of diffuse large B-cell lymphoma by an allogeneic stem-cell transplant

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS

MAPK8‐mediated stabilization of SP1 is essential for RUNX1‐RUNX1T1 – driven leukaemia

Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes

Differentially expressed small RNAs in Arabidopsis galls formed by Meloidogyne javanica: a functional role for miR390 and its TAS3‐derived tasiRNAs

Germline ETV6 variants: not ALL created equally

Familial CEBPA -mutated acute myeloid leukemia

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

A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation

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