S. Papadia

发表

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Sri V. V. Deevi, W. Ouwehand, A. Attwood, 2016, Blood.

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.

Induction of sulfiredoxin expression and reduction of peroxiredoxin hyperoxidation by the neuroprotective Nrf2 activator 3H‐1,2‐dithiole‐3‐thione

J. Hayes, Francesc X. Soriano, G. Hardingham, 2008, Journal of neurochemistry.

Factor V is an immune inhibitor that is expressed at increased levels in leukocytes of patients with severe Covid-19

Nicola K. Wilson, Kenneth G. C. Smith, W. Ouwehand, 2021, medRxiv.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

W. Ouwehand, Frances Burden, M. Frontini, 2018, Haematologica.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

William J. Astle, Sylvia Richardson, Kathleen Stirrups, 2016, Blood.

PLATELETS AND THROMBOPOIESIS A gain-of-function variant in DIAPH 1 causes dominant macrothrombocytopenia and hearing loss

William J. Astle, Sjoert B. G. Jansen, S. Richardson, 2016 .

A gain-of-function DIAPH1 variant causes dominant macrothrombocytopenia and hearing loss

William J. Astle, Sandrine, S. Richardson, 2015 .

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

William J. Astle, Sri V. V. Deevi, Matthew C. Sims, 2020, medRxiv.

Specific Targeting of Pro-Death NMDA Receptor Signals with Differing Reliance on the NR2B PDZ Ligand

R. Duncan, P. Clarke, Francesc X. Soriano, 2008, The Journal of Neuroscience.

A prospective study of risk factors associated with seroprevalence of SARS-CoV-2 antibodies in healthcare workers at a large UK teaching hospital

K. Stirrups, N. Walker, G. Dougan, 2020, Journal of Infection.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Sylvia Richardson, Kathleen Stirrups, Wendy N. Erber, 2016, Science Translational Medicine.

Edinburgh Research Explorer Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

S. O’Rahilly, S. Bouret, I. Barroso, 2019 .

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

William J. Astle, Sri V. V. Deevi, Matthew C. Sims, 2020, medRxiv.

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.

Excitotoxic insults lead to peroxiredoxin hyperoxidation

Francesc X. Soriano, G. Hardingham, S. Papadia, 2009, Oxidative medicine and cellular longevity.

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

Eleanor, Joy, Josh, 2022 .

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.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

William J. Astle, Suthesh Sivapalaratnam, Kathleen Stirrups, 2017, Blood.

Combined Point-of-Care Nucleic Acid and Antibody Testing for SARS-CoV-2 following Emergence of D614G Spike Variant

Steven F. Baker, Kenneth G. C. Smith, N. Walker, 2020, Cell Reports Medicine.

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.

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

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

S. O’Rahilly, S. Bouret, I. Barroso, 2019, Cell.

Single-cell multi-omics analysis of the immune response in COVID-19

Frances E. Muldoon, Nicola K. Wilson, Kenneth G. C. Smith, 2021, Nature Medicine.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

The Dichotomy of NMDA Receptor Signaling

G. Hardingham, S. Papadia, 2007, The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry.

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Wendy N Erber, Chantal Thys, Kate Downes, 2018, Blood advances.

Neuronal activity controls the antagonistic balance between peroxisome proliferator-activated receptor-γ coactivator-1α and silencing mediator of retinoic acid and thyroid hormone receptors in regulating antioxidant defenses.

Francesc X. Soriano, G. Hardingham, C. Puddifoot, 2011, Antioxidants & redox signaling.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

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

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

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

SynGAP isoforms exert opposing effects on synaptic strength

P. Kind, S. Grant, M. Collins, 2012, Nature Communications.

Cellular Notch responsiveness is defined by phosphoinositide 3-kinase-dependent signals

G. McKenzie, E. Briend, B. Champion, 2006, BMC Cell Biology.

Implication of TAp73 in the p53‐independent pathway of Puma induction and Puma‐dependent apoptosis in primary cortical neurons

G. Hardingham, A. Tolkovsky, M. Fricker, 2010, Journal of neurochemistry.

SARS-CoV-2 evolution during treatment of chronic infection

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

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.

A thermostable, closed SARS-CoV-2 spike protein trimer

John A.G. Briggs, Ian Goodfellow, Andrew P. Carter, 2020, Nature Structural & Molecular Biology.

SARS-CoV-2 evolution during treatment of chronic infection

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

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.

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Ernest Turro, Daniel Greene, Kate Downes, 2017, Blood.

A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding , thrombotic and platelet disorders

Sri V. V. Deevi, W. Ouwehand, J. Jolley, 2015 .

Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses

P. Ghazal, G. McKenzie, R. Corriveau, 2008, Nature Neuroscience.

Characterisation of dstpk61 in Drosophila development and the role of extramacrochaetae in Drosophila oogenesis

S. Papadia, 2005 .

Suppression of the Intrinsic Apoptosis Pathway by Synaptic Activity

Francesc X. Soriano, G. Hardingham, A. Tolkovsky, 2010, The Journal of Neuroscience.

Nuclear Ca2+ and the cAMP Response Element-Binding Protein Family Mediate a Late Phase of Activity-Dependent Neuroprotection

N. Hardingham, H. Bading, G. Hardingham, 2005, The Journal of Neuroscience.

Explorer The dichotomy of NMDA receptor signaling

G. Hardingham, S. Papadia, 2016 .

Nuclear Ca2+ and CaM kinase IV specify hormonal‐ and Notch‐responsiveness

G. McKenzie, H. Bading, G. Hardingham, 2005, Journal of neurochemistry.

Preconditioning Doses of NMDA Promote Neuroprotection by Enhancing Neuronal Excitability

N. Hardingham, H. Bading, Francesc X. Soriano, 2006, The Journal of Neuroscience.

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.

Nrf2 target genes can be controlled by neuronal activity in the absence of Nrf2 and astrocytes

R. Deighton, J. Hayes, G. Hardingham, 2014, Proceedings of the National Academy of Sciences.

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

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

Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19

Nicola K. Wilson, Kenneth G. C. Smith, K. Stirrups, 2022, iScience.

Author response: Screening of healthcare workers for SARS-CoV-2 highlights the role of asymptomatic carriage in COVID-19 transmission

Kenneth G. C. Smith, K. Stirrups, R. Samworth, 2020 .

Role of histone acetylation in the activity-dependent regulation of sulfiredoxin and sestrin 2

Francesc X. Soriano, G. Hardingham, S. Papadia, 2009, Epigenetics.

emc has a role in dorsal appendage fate formation in Drosophila oogenesis

P. Taylor, D. Clyde, M. Bownes, 2005, Mechanisms of Development.

THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders