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Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia

Blood, 2006-10, Vol.108 (7), p.2182-2189

2006

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Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

The Journal of experimental medicine, 2007-09, Vol.204 (9), p.2213-2224

2007

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Notch-1 Mutations Are Secondary Events in Some Patients with T-Cell Acute Lymphoblastic Leukemia

Clinical cancer research, 2007-12, Vol.13 (23), p.6964-6969

2007

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Recent advances in the understanding of genetic defects of neutrophil number and function

British journal of haematology, 2010-11, Vol.151 (4), p.312-326

2010

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Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

Blood, 2002-07, Vol.100 (2), p.707-709

2002

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Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

British journal of haematology, 2012-07, Vol.158 (1), p.146-149

2012

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Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds

British journal of haematology, 2009-03, Vol.144 (5), p.762-770

2009

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Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

Blood, 2001-11, Vol.98 (9), p.2645-2650

2001

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Long‐term follow‐up of granulocyte colony‐stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy

British journal of haematology, 2003-02, Vol.120 (4), p.685-690

2003

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Neutrophil Elastase Mutations in Congenital Neutropenia

Hematology (Luxembourg), 2003-06, Vol.8 (3), p.165-171

2003

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Phenotypic heterogeneity and evidence of a founder effect associated with G6 PC 3 mutations in patients with severe congenital neutropenia

British journal of haematology, 2012-07, Vol.158 (1), p.146-149

2012

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The Occurrence of Mutations in PTPN11 and KRAS Is Not Dissimilar in Patients with Indolent Juvenile Myelomonocytic Leukemia (JMML) from Those with Clinically More Aggressive Disease

Blood, 2007-11, Vol.110 (11), p.2424-2424

2007

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Identification of Two Novel Homozygous HAX1 Mutations in an Autosomal Recessive Jewish and Two Unrelated Sporadic British Families with Severe Congenital Neutropenia

Blood, 2007-11, Vol.110 (11), p.3309-3309

2007

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Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

The Journal of cell biology, 2007-09, Vol.178 (6), p.i11-i11

2007

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Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

British journal of haematology, 2012, Vol.158 (1), p.146-149

2012

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What is the diagnostic yield of bone marrow aspiration to exclude leukaemia prior to systemic treatment in juvenile idiopathic arthritis?

British journal of haematology, 2022-11, Vol.199 (3), p.447-451

2022

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Benefits for children with suspected cancer from routine whole-genome sequencing

Nature medicine, 2024-07, Vol.30 (7), p.1905-1912

2024

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Acute Lymphoblastic Leukaemia Has a Poor Outcome in Children with Down Syndrome Due to Infective Death in Remission (Results of UK MRC ALL 97 Trial)

Blood, 2005-11, Vol.106 (11), p.873-873

2005

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Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia

Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

Notch-1 Mutations Are Secondary Events in Some Patients with T-Cell Acute Lymphoblastic Leukemia

Recent advances in the understanding of genetic defects of neutrophil number and function

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

Long‐term follow‐up of granulocyte colony‐stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy

Neutrophil Elastase Mutations in Congenital Neutropenia

Phenotypic heterogeneity and evidence of a founder effect associated with G6 PC 3 mutations in patients with severe congenital neutropenia

The Occurrence of Mutations in PTPN11 and KRAS Is Not Dissimilar in Patients with Indolent Juvenile Myelomonocytic Leukemia (JMML) from Those with Clinically More Aggressive Disease

Identification of Two Novel Homozygous HAX1 Mutations in an Autosomal Recessive Jewish and Two Unrelated Sporadic British Families with Severe Congenital Neutropenia

Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia

Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation

What is the diagnostic yield of bone marrow aspiration to exclude leukaemia prior to systemic treatment in juvenile idiopathic arthritis?

Chemotherapy induces canalization of cell state in childhood B-cell precursor acute lymphoblastic leukemia

Benefits for children with suspected cancer from routine whole-genome sequencing

Acute Lymphoblastic Leukaemia Has a Poor Outcome in Children with Down Syndrome Due to Infective Death in Remission (Results of UK MRC ALL 97 Trial)

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