Nicholas S. Gleadall

发表

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

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

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Andrew R. Webster, Topun Austin, Kathleen Stirrups, 2018, Genome Medicine.

Loss of function variant in SMIM1 is associated with reduced energy expenditure and weight gain

William J. Astle, Nicholas S. Gleadall, H. Ullum, 2022 .

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2018, bioRxiv.

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity

Frances E. Muldoon, Kenneth G. C. Smith, Eleanor F. Dewhurst, 2022, Nature.

SARS-CoV-2 evolution during treatment of chronic infection

Graham W. Taylor, William L. Hamilton, Joshua B. Singer, 2021, Nature.

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

Nicholas S. Gleadall, W. Ouwehand, P. Morange, 2022, Thrombosis and haemostasis.

Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

Nicholas S. Gleadall, W. Ouwehand, P. Morange, 2020, bioRxiv.

Long-Read Sequencing Identi ﬁ es the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin De ﬁ ciency

Nicholas S. Gleadall, W. Ouwehand, P. Morange, 2022 .

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Eleanor, Joy, Josh, 2022 .

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2023, medRxiv.

Contrasting patterns of longitudinal population dynamics and antimicrobial resistance mechanisms in two priority bacterial pathogens over 7 years in a single center

Amy K. Cain, Christine J. Boinett, Nicholas S. Gleadall, 2019, Genome Biology.

Frances E. Muldoon, Sarah E. Jackson, Kenneth G. C. Smith, 2021, Nature.

Validation of self-administered nasal swabs and postage for the isolation of Staphylococcus aureus

Nicholas S. Gleadall, J. Danesh, S. Peacock, 2016, Journal of medical microbiology.

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

Sri V. V. Deevi, Nicholas S. Gleadall, W. Ouwehand, 2018, bioRxiv.

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

Sri V. V. Deevi, Nicholas S. Gleadall, K. Stirrups, 2019, Human mutation.

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.

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.

SARS-CoV-2 evolution during treatment of chronic infection

Graham W. Taylor, William L. Hamilton, Joshua B. Singer, 2021, Nature.

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Randy J Read, Karyn Megy, Suthesh Sivapalaratnam, 2019, Blood.

A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk

Nicholas S. Gleadall, J. Danesh, W. Ouwehand, 2023, medRxiv.

G protein–coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1

William J. Astle, Nicholas S. Gleadall, K. Stirrups, 2021, Blood advances.

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.

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.

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study.

Matthew S. Lebo, Nicholas S. Gleadall, J. Danesh, 2018, The Lancet. Haematology.

Dis-AE: Multi-domain & Multi-task Generalisation on Real-World Clinical Data

J. H. Rudd, Nicholas S. Gleadall, J. Aston, 2023, ArXiv.

Genomic identification of cryptic susceptibility to penicillins and β-lactamase inhibitors in methicillin-resistant Staphylococcus aureus

Nicholas S. Gleadall, F. Lowy, J. Parkhill, 2019, Nature Microbiology.

Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.

Sri V. V. Deevi, Nicholas S. Gleadall, W. Ouwehand, 2019, Blood.

Contrasting patterns of longitudinal population dynamics and antimicrobial resistance mechanisms in two priority bacterial pathogens over 7 years in a single center

Amy K. Cain, Christine J. Boinett, Nicholas S. Gleadall, 2019, Genome Biology.

Old Drugs To Treat Resistant Bugs: Methicillin-Resistant Staphylococcus aureus Isolates with mecC Are Susceptible to a Combination of Penicillin and Clavulanic Acid

Nicholas S. Gleadall, J. Parkhill, R. Zadoks, 2015, Antimicrobial Agents and Chemotherapy.

Genetic determinants of ferritin, haemoglobin levels and haemoglobin trajectories: results from Donor InSight

Nicholas S. Gleadall, K. Stirrups, C. Penkett, 2021, Vox sanguinis.

Low-Density TaqMan® Array Cards for the Detection of Pathogens

Nicholas S. Gleadall, J. Heaney, Nicholas S Gleadall, 2015, Methods in Microbiology.

Blood Group Genotyping.

Nicholas S. Gleadall, William Arbuthnot Sir Lane, Nicholas S Gleadall, 2021, Clinics in laboratory medicine.

Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing

Nicholas S. Gleadall, J. Fernández-breis, Javier Cuenca-Guardiola, 2023, iScience.

Recent Methodological Advances in Federated Learning for Healthcare

Nicholas S. Gleadall, C. Schönlieb, J. Preller, 2023, ArXiv.

Multiple GYPB gene deletions associated with the U− phenotype in those of African ancestry

Matthew S. Lebo, Nicholas S. Gleadall, R. Green, 2020, Transfusion.

SMIM1 absence is associated with reduced energy expenditure and excess weight.

Tanya M. Teslovich, May E. Montasser, Nicholette D. Palmer, 2024, i Medicina.

Development and validation of a universal blood donor genotyping platform: a multinational prospective study.

William J. Astle, Colin J. Brown, Nicholas S. Gleadall, 2020, Blood advances.