R. Kazmi

发表

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Targeting of Antithrombin in Hemophilia A or B with RNAi Therapy

A. Akinc, D. Bevan, K. Pasi, 2017, The New England journal of medicine.

Novel and diagnostically applicable information from optical waveform analysis of blood coagulation in disseminated intravascular coagulation

C. Toh, C. Downey, R. Kazmi, 1997, British journal of haematology.

New anticoagulants: how to deal with treatment failure and bleeding complications.

R. Kazmi, B. Lwaleed, 2011, British journal of clinical pharmacology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Plasminogen and fibrinogen plasma levels in coronary artery disease

R. Kazmi, B. Lwaleed, 2012, Revista brasileira de hematologia e hemoterapia.

Tissue factor and tissue factor pathway inhibitor in women with a past history of preeclampsia: implication for a hypercoagulable state postpregnancy

B. Birch, A. Cooper, R. Kazmi, 2014, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

Early Identification and Prognostic Implications in Disseminated Intravascular Coagulation through Transmittance Waveform Analysis

C. Toh, C. Downey, R. Kazmi, 1998, Thrombosis and Haemostasis.

Impaired Fibrinolysis in Angiographically Documented Coronary Artery Disease

V. Toledo, R. Kazmi, L. M. Lima, 2015, Advances in hematology.

A Subcutaneously Administered Investigational RNAi Therapeutic (ALN-AT3) Targeting Antithrombin for Treatment of Hemophilia: Interim Weekly and Monthly Dosing Results in Patients with Hemophilia A or B

A. Akinc, D. Bevan, K. Pasi, 2015 .

First Data from the Phase 3 HOPE-B Gene Therapy Trial: Efficacy and Safety of Etranacogene Dezaparvovec (AAV5-Padua hFIX variant; AMT-061) in Adults with Severe or Moderate-Severe Hemophilia B Treated Irrespective of Pre-Existing Anti-Capsid Neutralizing Antibodies

J. Astermark, C. Hermans, Michael Wang, 2020 .

A Subcutaneously Administered Investigational RNAi Therapeutic, Fitusiran (ALN-AT3), Targeting Antithrombin for Treatment of Hemophilia: Interim Results in Patients with Hemophilia A or B

Creagh, A. Akinc, D. Bevan, 2016 .

Global Seroprevalence of Pre-existing Immunity Against AAV5 and Other AAV Serotypes in People with Hemophilia A

J. Oldenburg, M. Ozelo, D. Quon, 2022, Human gene therapy.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

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

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Fitusiran, an Investigational RNAi Therapeutic Targeting Antithrombin for the Treatment of Hemophilia: Updated Results from a Phase 1 and Phase 1/2 Extension Study in Patients without Inhibitors

A. Akinc, D. Bevan, K. Pasi, 2016 .

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Inflammation, Endothelial Dysfunction, and Thromboembolism

A. Cooper, R. Kazmi, B. Lwaleed, 2015, Seminars in Thrombosis & Hemostasis.

Elevated plasma factor VIII and von Willebrand factor in women with type 2 diabetes: inflammatory reaction, endothelial perturbation or else?

A. Fernandes, R. Kazmi, M. Borges, 2011, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Homeostasis of Hemostasis: The Role of Endothelium

R. Kazmi, B. Lwaleed, S. Boyce, 2015, Seminars in Thrombosis & Hemostasis.

Platelet function in pre-eclampsia.

A. Cooper, R. Kazmi, B. Lwaleed, 2011, Seminars in thrombosis and hemostasis.

Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.

R. Dolmetsch, J. Astermark, C. Hermans, 2023, The New England journal of medicine.

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

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Recombinant ADAMTS13 reduces abnormally up-regulated von Willebrand factor in plasma from patients with severe COVID-19

M. Laffan, Ahilanandan Dushianthan, A. Mumford, 2021, Thrombosis Research.

The Activation of Complement and Its Role in the Pathogenesis of Thromboembolism

R. Kazmi, E. Eren, B. Lwaleed, 2015, Seminars in Thrombosis & Hemostasis.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Sources of thrombomodulin in pre-eclampsia: renal dysfunction or endothelial damage?

R. Kazmi, M. Carvalho, B. Lwaleed, 2011, Seminars in thrombosis and hemostasis.

Predictive Role of Haematological Determinants on Outcomes of Critically Ill COVID-19 Patients Admitted to Intensive Care Unit

Ahilanandan Dushianthan, S. Rangarajan, R. Kazmi, 2021, Cureus.

Gastrointestinal Bleeding and Aortic Stenosis (Heyde Syndrome): The Role of Aortic Valve Replacement

R. Kazmi, B. Lwaleed, R. Saad, 2013, Journal of cardiac surgery.

Unsuspected Acquired Haemophilia in a Patient with Myocardial Infarction

R. Kazmi, N. Curzen, D. Pepperell, 2004 .

Unsuspected acquired haemophilia in a patient with myocardial infarction.

R. Kazmi, N. Curzen, D. Pepperell, 2004, Journal of the Royal Society of Medicine.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

First-in-Human Phase 1/2 Clinical Trial of SIG-001, an Innovative Shielded Cell Therapy Platform, for Hemophilia Α

B. Konkle, A. Shapiro, W. Miesbach, 2020 .

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Autoimmune disease and COVID-19: a multicentre observational study in the United Kingdom

Hakeem O. Yusuff, M. Laffan, J. Kilner, 2022, Rheumatology.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.