P. Gordins

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.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.

Smita Y. Patel, A. Nicholson, Smita Y Patel, 2017, The journal of allergy and clinical immunology. In practice.

JAK inhibition as a therapeutic strategy for IgG4-RD.

P. Gordins, S. Durairaj, S. Khan, 2020, Journal of investigational allergology & clinical immunology.

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.

Do anti-smooth muscle antibodies predict development of autoimmune hepatitis in patients with normal liver function? - A retrospective cohort review.

P. Gordins, S. Holding, L. Corless, 2016, Autoimmunity reviews.

Oral hairy leukoplakia in a patient on long-term anticonvulsant treatment with lamotrigine.

P. Sloan, P. Gordins, G. Spickett, 2011, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

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.

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 Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Sri V. V. Deevi, Kenneth G. C. Smith, Nicholas S. Gleadall, 2018, bioRxiv.

Incorporation of chlorhexidine in alcohol skin swabs is not without risks of allergic reactions including anaphylaxis.

Sujoy Khan, P. Gordins, S. Holding, 2020, British journal of nursing.

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.

The Role of Omega-5 Gliadin-Specific IgE Test in Diagnosing Exercise-Induced Wheat Allergy

P. Gordins, G. Spickett, A. Mclean-Tooke, 2010, International Archives of Allergy and 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.

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.

Endovascular repair of descending thoracic aortic aneurysm in patient with Wiskott-Aldrich syndrome.

D. Lambert, P. Gordins, G. Spickett, 2013, Journal of vascular surgery.