A. Manson

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.

Hypogammaglobulinaemia after rituximab treatment-incidence and outcomes.

B. Grimbacher, S. Seneviratne, M. Leandro, 2014, QJM : monthly journal of the Association of Physicians.

Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity

Lorena E. Lorenzo, N. Morgan, M. A. Russell, 2019, Case reports in immunology.

Guidelines on the use of irradiated blood components

A. Gennery, A. Coles, R. Cardigan, 2020, British journal of haematology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

Anaphylaxis to Patent Blue V: a case series

S. Seneviratne, R. Juneja, A. Manson, 2012, Asia Pacific allergy.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Tired with all those supplements?

N. Chapman, S. Seneviratne, A. Manson, 2011, QJM : monthly journal of the Association of Physicians.

Rituximab Associated Hypogammaglobulinemia in Autoimmune Disease

D. Kumararatne, D. Jayne, A. Manson, 2021, Frontiers in Immunology.

IgE-mediated allergy to local anaesthetics: separating fact from perception: a UK perspective.

S. Misbah, S. Seneviratne, A. Manson, 2012, British journal of anaesthesia.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

Immune deficiency: changing spectrum of pathogens

S. Duraisingham, H. Longhurst, S. Grigoriadou, 2015, Clinical and experimental immunology.

Mullins’ syndrome: a new gammopathy-related autoinflammatory syndrome resistant to anakinra

J. Cavenagh, H. Longhurst, S. Grigoriadou, 2012, QJM : monthly journal of the Association of Physicians.

In pursuit of excellence: an integrated care pathway for C1 inhibitor deficiency

J Dempster, H. Longhurst, S. Grigoriadou, 2013, Clinical and experimental immunology.

Use of recombinant C1 inhibitor in patients with resistant or frequent attacks of hereditary or acquired angioedema

H. Longhurst, S. Grigoriadou, A. Manson, 2014, EJD. European journal of dermatology.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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

Autosomal recessive chronic granulomatous disease presenting with cutaneous dermatoses and ocular infection

S. Seneviratne, A. Manson, L. Low, 2013, Clinical and experimental dermatology.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Optimizing hereditary angioedema management through tailored treatment approaches

H. Longhurst, A. Manson, I. Nasr, 2016, Expert review of clinical immunology.

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.

Liver disease is common in patients with common variable immunodeficiency and predicts mortality in the presence of cirrhosis or portal hypertension.

S. Davies, W. Griffiths, D. Kumararatne, 2019, The journal of allergy and clinical immunology. In practice.

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.

A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).

D. Kelsell, N. Morgan, H. Longhurst, 2017, Clinical immunology.

Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome.

K. Schwarz, M. Weinrich, F. Rieux-Laucat, 2022, The Journal of allergy and clinical immunology.

Management of granulomatous common variable immunodeficiency diagnosed in pregnancy: a case report

S. Seneviratne, P. Kelleher, C. Nelson-Piercy, 2012, Journal of Perinatology.

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2023, Journal of Clinical Immunology.

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.

Optimizing hereditary angioedema management through tailored treatment approaches

H. Longhurst, A. Manson, I. Nasr, 2016, Expert review of clinical immunology.

A national survey of hereditary angioedema and acquired C1 inhibitor deficiency in the United Kingdom.

A. Worth, P. Arkwright, F. Shackley, 2023, The journal of allergy and clinical immunology. In practice.

Berotralstat for the prophylaxis of hereditary angioedema—Real‐world evidence data from the United Kingdom

Lorena E. Lorenzo, S. Grigoriadou, A. Herwadkar, 2023, Allergy.

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.