S. Hackett

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.

Duration of intravenous antibiotic therapy for children with acute osteomyelitis or septic arthritis: a feasibility study.

C. Gamble, P. Williamson, C. Ballinger, 2017, Health technology assessment.

Paediatric Inflammatory Multisystem Syndrome: Temporally Associated with SARS-CoV-2 (PIMS-TS): Cardiac Features, Management and Short-Term Outcomes at a UK Tertiary Paediatric Hospital

B. Scholefield, H. Kanthimathinathan, A. Richter, 2020, Pediatric Cardiology.

Treatment of acromegaly with the growth hormone-receptor antagonist pegvisomant.

J. A. Scarlett, L. Phillips, M. Vance, 2000, The New England journal of medicine.

Toxic shock syndrome surveillance in UK children

S. Hackett, J. Clark, S. Adalat, 2014, Archives of Disease in Childhood.

Systemic reactions and anaphylaxis with an acute serum tryptase ≥14 μg/L: retrospective characterisation of aetiology, severity and adherence to National Institute of Health and Care Excellence (NICE) guidelines for serial tryptase measurements and specialist referral

S. Srivastava, M. Cooke, M. Krishna, 2014, Journal of Clinical Pathology.

Vitamin D status of children with paediatric inflammatory multisystem syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 (PIMS-TS)

B. Scholefield, H. Kanthimathinathan, S. Hackett, 2021, British Journal of Nutrition.

Clinical characteristics of paediatric H1N1 admissions in Birmingham, UK

E. Smit, S. Hackett, S. Welch, 2009, The Lancet.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

Immunode fi ciency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL 1

G. Charras, S. Nejentsev, V. Plagnol, 2022 .

Outcomes Following SARS-CoV-2 Infection in Patients With Primary and Secondary Immunodeficiency in The United Kingdom

Smita Y. Patel, F. Dhalla, Smita Y Patel, 2021 .

Paediatric practice note for the management of critically ill children with pandemic (H1N1) 2009 Influenza

S. Faust, I. Jenkins, S. Hackett, 2009 .

Anaphylaxis and ethnicity: higher incidence in British South Asians

M. Cooke, R. Buka, M. Cooke, 2015, Allergy.

The Innate and Adaptive Immune Landscape of SARS-CoV-2-Associated Multisystem Inflammatory Syndrome in Children (MIS-C) from Acute Disease to Recovery

P. Kearns, S. Ott, N. Khan, 2020, SSRN Electronic Journal.

Meningococcal bacterial DNA load at presentation correlates with disease severity

C. Hart, J. Sills, E. Kaczmarski, 2002, Archives of disease in childhood.

Cytokines, chemokines and other effector molecules involved in meningococcal disease.

C. Hart, A. Thomson, S. Hackett, 2001, Journal of medical microbiology.

Meningococcal Disease in Children in Merseyside, England: A 31 Year Descriptive Study

P. Diggle, D. Taylor-Robinson, C. Hart, 2011, PloS one.

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.

Anaphylaxis and Clinical Utility of Real-World Measurement of Acute Serum Tryptase in UK Emergency Departments.

R. Buka, M. Cooke, M. Krishna, 2017, The journal of allergy and clinical immunology. In practice.

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012

Smita Y. Patel, A. Gennery, S. Marshall, 2014, Clinical and experimental 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.

Achieving equitable management of allergic disorders and primary immunodeficiency in a Black, Asian and Minority Ethnic population

M. Krishna, C. Bethune, S. Hackett, 2020, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

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.

Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom.

A. Gennery, M. Pearce, D. Goldblatt, 2017, The Journal of allergy and clinical immunology.

UK vaccination schedule: persistence of immunity to hepatitis B in children vaccinated after perinatal exposure

Ly-Mee Yu, A. Pollard, M. Snape, 2013, Archives of Disease in Childhood.

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

G. Charras, S. Nejentsev, V. Plagnol, 2015, Blood.

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

S. Nejentsev, V. Plagnol, H. Wajant, 2018, Science.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Persistently positive HIV serology at age 18 months in uninfected children

E. Smit, S. Hackett, S. Welch, 2008, Archives of Disease in Childhood.

Dual Proteolytic Pathways Govern Glycolysis and Immune Competence

W. Lu, V. Korolchuk, David McDonald, 2014, Cell.

A UK national audit of hereditary and acquired angioedema

P. Williams, P. Arkwright, S. Jolles, 2014, Clinical and experimental immunology.

The immune landscape of SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Children (MIS-C) from acute disease to recovery

P. Kearns, S. Ott, N. Khan, 2021, iScience.

A national consensus management pathway for paediatric inflammatory multisystem syndrome temporally associated with COVID-19 (PIMS-TS): results of a national Delphi process

S. Tibby, D. Kelly, M. Levin, 2020, The Lancet Child & Adolescent Health.

Management of a Transcranial Abscess Secondary to Interleukin-1 Receptor Associated Kinase 4 Deficiency

S. Hackett, D. Rodrigues, T. Pidgeon, 2015, The Journal of craniofacial surgery.

Improved case confirmation in meningococcal disease with whole blood Taqman PCR

C. Hart, J. Sills, E. Kaczmarski, 2002, Archives of disease in childhood.

STAT2 deficiency and susceptibility to viral illness in humans

N. McGovern, P. Ghazal, S. Goodbourn, 2013, Proceedings of the National Academy of Sciences.

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.

Selective screening for complement deficiencies in patients with meningococcal disease.

S. Hackett, T. Flood, 2004, The Pediatric Infectious Disease Journal.

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.

Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe

P. Kralickova, J. Litzman, A. Turley, 2015, Journal of Clinical Immunology.

Degos disease: a new simulator of non‐accidental injury

H. Shahidullah, R. Malcomson, E. Wassmer, 2009, Developmental medicine and child neurology.

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

J. Casanova, A. Bousfiha, Shen-Ying Zhang, 2023, The Journal of clinical investigation.

Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe

P. Kralickova, J. Litzman, N. Kutukculer, 2015, Journal of Clinical Immunology.

Republished: Immune deficiencies in children: an overview

S. Hackett, S. Welch, S. Lissauer, 2013, Postgraduate Medical Journal.

Immune deficiencies in children: an overview

S. Hackett, S. Welch, S. Lissauer, 2013, Archives of Disease in Childhood: Education & Practice Edition.

Serology confirms SARS-CoV-2 infection in PCR-negative children presenting with Paediatric Inflammatory Multi-System Syndrome

M. Drayson, A. Cunningham, D. Wraith, 2020, medRxiv.

Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA

J. Hadfield, R. Geha, M. Massaad, 2017, Journal of Clinical Immunology.

Critical Care Course of Pediatric Inflammatory Multisystem Syndrome Temporally Associated with SARS-CoV-2 and Response to Immunomodulation

B. Scholefield, H. Kanthimathinathan, A. Richter, 2020, Journal of Pediatric Intensive Care.

Paediatric Inflammatory Multisystem Syndrome: Temporally Associated with SARS-CoV-2 (PIMS-TS): Cardiac Features, Management and Short-Term Outcomes at a UK Tertiary Paediatric Hospital

B. Scholefield, H. Kanthimathinathan, A. Richter, 2020, Pediatric Cardiology.

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

V. Lougaris, A. Plebani, G. Driessen, 2018, Journal of 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.

UK vaccination schedule: persistence of immunity to hepatitis B in children vaccinated after perinatal exposure

Ly-Mee Yu, A. Pollard, M. Snape, 2013, Archives of Disease in Childhood.

STAT2 deficiency and susceptibility to viral illness in humans

N. McGovern, S. Goodbourn, R. Randall, 2013, Proceedings of the National Academy of Sciences.

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.

SARS‐CoV‐2‐specific IgG1/IgG3 but not IgM in children with Pediatric Inflammatory Multi‐System Syndrome

M. Drayson, A. Cunningham, D. Wraith, 2020, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK

Smita Y. Patel, F. Dhalla, N. Verma, 2022, Clinical and experimental immunology.

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.

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

G. Charras, S. Nejentsev, V. Plagnol, 2015, Blood.

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

V. Lougaris, A. Plebani, G. Driessen, 2018, Journal of Clinical Immunology.