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A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

British journal of haematology, 2016-10, Vol.175 (2), p.318-330

2016

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The Use of Next‐generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

HemaSphere, 2022-06, Vol.6 (6), p.e739-n/a

2022

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Direct correction of haemoglobin E β-thalassaemia using base editors

Nature communications, 2023-04, Vol.14 (1), p.2238-2238, Article 2238

2023

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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

British journal of haematology, 2019-05, Vol.185 (3), p.436-449

2019

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Cardiac iron overload in transfusion‐dependent patients with myelodysplastic syndromes

British journal of haematology, 2011-08, Vol.154 (4), p.521-524

2011

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Iron overload in inherited anaemias: why one size can't fit all

British journal of haematology, 2022-01, Vol.196 (2), p.266-267

Roy, Noémi B. A.

2022

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Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID‐19 pandemic

British journal of haematology, 2020-05, Vol.189 (4), p.635-639

2020

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Medical science must address health disparities amongst different ethnic groups

Nature human behaviour, 2021-12, Vol.5 (12), p.1595

2021

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Single-cell O₂ exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells

Proceedings of the National Academy of Sciences - PNAS, 2020-05, Vol.117 (18), p.10067-10078

2020

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Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline

British journal of haematology, 2023-06, Vol.201 (6), p.1047-1065

2023

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Single-cell O 2 exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells

Proceedings of the National Academy of Sciences - PNAS, 2020-05, Vol.117 (18), p.10067-10078

2020

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Supportive care in the management of patients with acute myeloid leukaemia: where are the research needs?

British journal of haematology, 2020-08, Vol.190 (3), p.311-313

2020

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Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level

British journal of haematology, 2022-07, Vol.198 (1), p.e10-e14

2022

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Unexpected haemophilia despite pre‐natal testing – a combined haemophilia A and haemophilia B family

British journal of haematology, 2017-10, Vol.179 (2), p.182-182

2017

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The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper

British journal of haematology, 2022-08, Vol.198 (3), p.459-477

2022

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Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Hemoglobin, 2021-07, Vol.45 (4), p.215-219

2021

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Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease

Blood reviews, 2023-09, Vol.61, p.101097-101097, Article 101097

2023

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RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

Developmental cell, 2023-10, Vol.58 (20), p.2112-2127.e4

2023

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The role of X‐inactivation in the gender bias of patients with acquired α‐thalassaemia and myelodysplastic syndrome (ATMDS)

British journal of haematology, 2009-02, Vol.144 (4), p.538-545

2009

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Expanded eligibility for emerging therapies in sickle cell disease in the UK – crizanlizumab and voxelotor

British journal of haematology, 2022-05, Vol.197 (4), p.502-504

2022

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Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

Rheumatology (Oxford, England), 2020-02, Vol.59 (2), p.448-451

2020

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Interventions for chronic kidney disease in people with sickle cell disease

Cochrane database of systematic reviews, 2023-08, Vol.8, p.CD012380

2023

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Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-341, Article 341

2023

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Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

Haematologica (Roma), 2021-11, Vol.106 (11), p.2960-2970

2021

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Significant haemoglobinopathies: A guideline for screening and diagnosis

British journal of haematology, 2023-06, Vol.201 (6), p.1047-1065

2023

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A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

The Use of Next‐generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

Direct correction of haemoglobin E β-thalassaemia using base editors

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

Cardiac iron overload in transfusion‐dependent patients with myelodysplastic syndromes

Iron overload in inherited anaemias: why one size can't fit all

Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID‐19 pandemic

Medical science must address health disparities amongst different ethnic groups

Single-cell O₂ exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells

Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline

Single-cell O 2 exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells

Supportive care in the management of patients with acute myeloid leukaemia: where are the research needs?

Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level

Unexpected haemophilia despite pre‐natal testing – a combined haemophilia A and haemophilia B family

The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease

RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation

The role of X‐inactivation in the gender bias of patients with acquired α‐thalassaemia and myelodysplastic syndrome (ATMDS)

Expanded eligibility for emerging therapies in sickle cell disease in the UK – crizanlizumab and voxelotor

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

Interventions for chronic kidney disease in people with sickle cell disease

Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience

Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

Significant haemoglobinopathies: A guideline for screening and diagnosis

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