D. Edgar

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.

Gingival Inflammation and Aggressive Periodontitis in a Child with a Specific Antibody Deficiency.

M. Shields, D. Edgar, G. Linden, 2016, Dental update.

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

S. Ammann, S. Burns, K. Gilmour, 2016, Journal of Clinical Immunology.

Chronic lung disease in common variable immune deficiency (CVID): A pathophysiological role for microbial and non-B cell immune factors

M. Tunney, D. Edgar, G. Einarsson, 2017, Critical reviews in microbiology.

Specific Antibody Deficiencies in Clinical Practice.

R. Sorensen, D. Edgar, 2019, The journal of allergy and clinical immunology. In practice.

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

Ania, Eleanor, Dewhurst, 2018 .

Long‐term outcomes of 176 patients with X‐linked hyper‐IgM syndrome treated with or without hematopoietic cell transplantation

L. Notarangelo, J. Chou, C. Cunningham-Rundles, 2017, 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.

Preparing for severe contrast media reactions in children - results of a national survey, a literature review and a suggested protocol.

A. Paterson, D. Edgar, R. Lindsay, 2011, Clinical radiology.

Treating secondary antibody deficiency in patients with haematological malignancy: European expert consensus

R. Ria, L. Trentin, C. Agostini, 2021, European journal of haematology.

Suspected Anaphylactic Reactions Associated with Anaesthesia

J. Soar, P. Hopkins, P. Williams, 2009, Anaesthesia.

Angioedema of the Tongue Due to Acquired C1 Esterase Inhibitor Deficiency

D. Edgar, J. Trinder, G. Dobson, 2003, Anaesthesia and intensive care.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

Liver disease predicts mortality in patients with X‐linked immunodeficiency with hyper‐IgM but can be prevented by early hematopoietic stem cell transplantation

W. Griffiths, D. Kumararatne, D. Edgar, 2018, The Journal of allergy and clinical immunology.

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

S. Dorman, A. Fischer, R. Döffinger, 1999, Nature Genetics.

C1 inhibitor deficiency: 2014 United Kingdom consensus document

M. Gompels, S. Seneviratne, C. Cale, 2015, Clinical and experimental immunology.

A Low Serum sICAM-1 Level May Assist in the Exclusion of Neonatal Infection

D. Edgar, Moira J. Thomas, J. Grant, 2002, Neonatology.

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.

The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017

Smita Y. Patel, A. Gennery, A. Worth, 2018, Clinical and experimental immunology.

Diagnosis of defects in the type 1 cytokine pathway.

D. Lammas, D. Edgar, J. Girdlestone, 2000, Microbes and infection.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Bodo Grimbacher, James Curtis, Siobhan O. Burns, 2017, The Journal of allergy and clinical immunology.

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.

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.

Detection of multiple allergen-specific IgEs on microarrays by immunoassay with rolling circle amplification.

S O'Malley, S. Kingsmore, S. Wiltshire, 2000, Clinical chemistry.

T cell immunodeficiency

D. Edgar, J. D. Edgar, 2008, Journal of Clinical Pathology.