Mark J. Ponsford

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Evaluating the Implementation of a National COVID-19 Hospital Guideline in Wales

Rhys Jefferies, Mark J. Ponsford, Simon M Barry, 2021 .

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

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.

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.

Sequestration and microvascular congestion are associated with coma in human cerebral malaria.

Mark J. Ponsford, M. Esiri, Sue J Lee, 2012, The Journal of infectious diseases.

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.

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.

Changes in immunoglobulin levels during clozapine treatment in schizophrenia

Mark J. Ponsford, A. Egerton, J. Hodsoll, 2022, Brain, Behavior, and Immunity.

Failure to mount a humoral response to COVID-19 vaccination identifies individuals with previously undiagnosed severe antibody deficiency state: preliminary data from the COVID-19 ENLIST study.

Mark J. Ponsford, 2022, Future healthcare journal.

Examining the utility of extended laboratory panel testing in the emergency department for risk stratification of patients with COVID-19: a single-centre retrospective service evaluation

Ross J. Burton, Mark J. Ponsford, M. Eberl, 2021, Journal of Clinical Pathology.

The interplay between inflammatory cytokines and cardiometabolic disease: bi-directional mendelian randomisation study

Mark J. Ponsford, T. Lehtimäki, V. Salomaa, 2023, BMJ medicine.

Hyper‐IgE in the allergy clinic––when is it primary immunodeficiency?

Mark J. Ponsford, A. Šedivá, J. Litzman, 2018, Allergy.

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.

Mechanically Ventilated Patients Shed High-Titer Live Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) for Extended Periods From Both the Upper and Lower Respiratory Tract

Mark J. Ponsford, M. Ponsford, S. Jolles, 2021, medRxiv.

Increased Respiratory Viral Detection and Symptom Burden Among Patients with Primary Antibody Deficiency: Results from the BIPAD Study

Mark J. Ponsford, D. Farewell, G. Greene, 2020, The Journal of Allergy and Clinical Immunology: In Practice.

Clozapine is associated with secondary antibody deficiency

Mark J. Ponsford, D. Farewell, T. Tahir, 2018, The British journal of psychiatry : the journal of mental science.

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders

Mark J. Ponsford, T. Vulliamy, M. Ponsford, 2021, Human Genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

COVID-19 and X-linked agammaglobulinemia (XLA) – insights from a monogenic antibody deficiency

Mark J. Ponsford, A. Gennery, I. Humphreys, 2021, Current opinion in allergy and clinical immunology.

Improved anaphylaxis referral rates to specialized services from an Emergency Department

Mark J. Ponsford, M. Ponsford, S. Jolles, 2020, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

Quantification of human C1 esterase inhibitor protein using an automated turbidimetric immunoassay

Mark J. Ponsford, N. Verma, M. Ponsford, 2018, Journal of clinical laboratory analysis.

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency

Ivan K. Chinn, Mark J. Ponsford, L. Forbes, 2018, Journal of Clinical Immunology.

Cardiometabolic Traits, Sepsis, and Severe COVID-19

Mark J. Ponsford, V. Zuber, C. Willer, 2020, Circulation.

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.

What is new in HIES? Recent insights from the interface of primary immune deficiency and atopy

Mark J. Ponsford, W. Rae, M. Ponsford, 2018, Current opinion in allergy and clinical immunology.

COVID-19 Vaccine Uptake and Efficacy in a National Immunodeficiency Cohort

Mark J. Ponsford, D. Farewell, M. Ponsford, 2022, Journal of Clinical Immunology.

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.

Detection of antibodies to the SARS-CoV-2 spike glycoprotein in both serum and saliva enhances detection of infection

Mark J. Ponsford, M. Drayson, A. Cunningham, 2020, medRxiv.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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

Facilitated subcutaneous immunoglobulin (fSCIg) therapy – practical considerations

Mark J. Ponsford, P. Williams, M. Ponsford, 2015, Clinical and experimental immunology.

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.