All Stories

  1. New overlaps between mental health, antipsychotic medication and the immune system revealed

    Article • Journal of Clinical Pathology, February 2020, BMJ

    Mark Ponsford

  2. Clinical and laboratory characteristics of clozapine treated schizophrenia patients referred to a national immunodeficiency clinic reveals a B-cell signature resembling CVID.

    Article • October 2019, Cold Spring Harbor Laboratory Press

    Mark Ponsford

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

    Article • Current Opinion in Allergy and Clinical Immunology, December 2018, Wolters Kluwer Health

    Mark Ponsford

  4. Hyper-IgE in the allergy clinic--when is it primary immunodeficiency?

    Article • Allergy, October 2018, Wiley

    Mark Ponsford

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

    Article • Journal of Clinical Immunology, October 2018, Springer Science + Business Media

    Mark Ponsford

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

    Article • Journal of Allergy and Clinical Immunology, October 2018, Elsevier

    Mark Ponsford

  7. Clozapine is associated with secondary antibody deficiency

    Article • The British Journal of Psychiatry, September 2018, Royal College of Psychiatrists

    Mark Ponsford

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

    Article • Journal of Clinical Laboratory Analysis, July 2018, Wiley

    Mark Ponsford

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

    Article • The American Journal of Human Genetics, July 2018, Elsevier

    Mark Ponsford, Professor Allan Lawrie

  10. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

    Article • The American Journal of Human Genetics, July 2018, Elsevier

    Mark Ponsford, Professor Allan Lawrie

  11. Quantification of human complement C2 protein using an automated turbidimetric immunoassay

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), May 2018, De Gruyter

    Mark Ponsford

  12. Measurement of Typhi Vi antibodies can be used to assess adaptive immunity in patients with immunodeficiency

    Article • Clinical & Experimental Immunology, April 2018, Wiley

    Chris Scott, Mark Ponsford

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

    Article • Scientific Reports, January 2018, Springer Science + Business Media

    Mark Ponsford, Professor Allan Lawrie

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

    Article • Circulation, November 2017, Wolters Kluwer Health

    Mark Ponsford, Professor Allan Lawrie

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

    Article • The American Journal of Human Genetics, February 2017, Elsevier

    Mark Ponsford, Professor Allan Lawrie

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

    Article • The American Journal of Human Genetics, January 2017, Elsevier

    Mark Ponsford, Professor Allan Lawrie

  17. Skin Necrosis Following Subcutaneous Immunoglobulin (SCIg)

    Article • Journal of Clinical Immunology, October 2016, Springer Science + Business Media

    Mark Ponsford, Mark Ponsford

  18. Facilitated subcutaneous immunoglobulin (fSCIg) therapy - practical considerations

    Article • Clinical & Experimental Immunology, September 2015, Wiley

    Mark Ponsford

  19. Five years of self-administered hyaluronidase facilitated subcutaneous immunoglobulin (fSCIg) home therapy in a patient with primary immunodeficiency

    Article • Journal of Clinical Pathology, July 2015, BMJ

    Mark Ponsford

  20. Long-term follow-up of patients undergoing free tissue transfer to the lower limb following trauma

    Article • European Journal of Plastic Surgery, April 2013, Springer Science + Business Media

    Mark Ponsford

  21. Sequestration and Microvascular Congestion Are Associated With Coma in Human Cerebral Malaria

    Article • The Journal of Infectious Diseases, December 2011, Oxford University Press (OUP)

    Mark Ponsford

  22. Laboratory sample turnaround times: do they cause delays in the ED?

    Article • Journal of Evaluation in Clinical Practice, September 2010, Wiley

    Mark Ponsford