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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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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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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.1595-1597

2021

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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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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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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 (8), p.CD012380

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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Interventions for chronic kidney disease in people with sickle cell disease

Cochrane database of systematic reviews, 2017-07, Vol.7 (7), p.CD012380

2017

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Childhood essential thrombocythaemia

British journal of haematology, 2005-06, Vol.129 (5), p.567-567

2005

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Whole-genome sequencing of patients with rare diseases in a national health system

Nature (London), 2020-07, Vol.583 (7814), p.96-102

2020

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Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients

Haematologica (Roma), 2020-11, Vol.105 (11), p.2651-2654

2020

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Safety and efficacy of iron therapy on reducing red blood cell transfusion requirements and treating anaemia in critically ill adults: A systematic review with meta-analysis and trial sequential analysis

Journal of critical care, 2019-02, Vol.49, p.162-171

2019

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Home confinement during the COVID-19: day-to-day associations of sleep quality with rumination, psychotic-like experiences, and somatic symptoms

Sleep (New York, N.Y.), 2021-07, Vol.44 (7), p.1

2021

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Identification of common genetic risk variants for autism spectrum disorder

Nature genetics, 2019-03, Vol.51 (3), p.431-444

2019

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Radiation Exposure, the ATM Gene, and Contralateral Breast Cancer in the Women's Environmental Cancer and Radiation Epidemiology Study

JNCI : Journal of the National Cancer Institute, 2010-04, Vol.102 (7), p.475-483

2010

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

Direct correction of haemoglobin E β-thalassaemia using base editors

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

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

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

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

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

Interventions for chronic kidney disease in people with sickle cell disease

Childhood essential thrombocythaemia

Whole-genome sequencing of patients with rare diseases in a national health system

Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients

Safety and efficacy of iron therapy on reducing red blood cell transfusion requirements and treating anaemia in critically ill adults: A systematic review with meta-analysis and trial sequential analysis

Home confinement during the COVID-19: day-to-day associations of sleep quality with rumination, psychotic-like experiences, and somatic symptoms

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Identification of common genetic risk variants for autism spectrum disorder

Radiation Exposure, the ATM Gene, and Contralateral Breast Cancer in the Women's Environmental Cancer and Radiation Epidemiology Study

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