J. Stephens

发表

Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls

Jake K. Byrnes, Tomas W. Fitzgerald, P. Donnelly, 2010, Nature.

Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls

Jake K. Byrnes, Tomas W. Fitzgerald, Renwick, 2010 .

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Tanya M. Teslovich, Ayellet V. Segrè, P. Elliott, 2010 .

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

Christian Gieger, Thomas Meitinger, Inês Barroso, 2009, Nature Genetics.

Seventy-five genetic loci influencing the human red blood cell

Christian Gieger, Ian J. Deary, Uwe Völker, 2012, Nature.

New gene functions in megakaryopoiesis and platelet formation

Christian Gieger, Yusuke Nakamura, Ian J. Deary, 2011, Nature.

Comprehensive Exploration of the Effects of miRNA SNPs on Monocyte Gene Expression

P. Deloukas, C. Rice, A. Ziegler, 2012, PloS one.

Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis

E. Zeggini, W. Ouwehand, M. Quail, 2015, Cell reports.

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.

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Judy H. Cho, John P. Ferguson, G. Wainrib, 2019, Scientific Reports.

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

P. Donnelly, C. Spencer, C. Freeman, 2010 .

Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index

Henrik, Tanya M. Teslovich, Jennie, 2012 .

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Kenneth G. C. Smith, S. Tavaré, M. Brown, 2019, The Journal of experimental medicine.

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

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

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.

Chris I. Jones, P. Deloukas, C. Rice, 2009, 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.

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Christian Gieger, Jianxin Shi, Inês Barroso, 2013, Nature Genetics.

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.

Simon C. Potter, Chris I. Jones, C. Gieger, 2009, Blood.

Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function.

Chris I. Jones, C. Rice, W. Ouwehand, 2010, Blood.

Mapping the platelet profile for functional genomic studies and demonstration of the effect size of the GP6 locus

A H Goodall, C Berzuini, P Burns, 2007, Journal of thrombosis and haemostasis : JTH.

Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

W. Chung, Yufeng Shen, M. Humbert, 2019, bioRxiv.

Variation in thromboxane B2 concentrations in serum and plasma in patients taking regular aspirin before and after clopidogrel therapy

J. Stephens, A. Goodall, A. McConnachie, 2015, Platelets.

Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

W. Chung, Yufeng Shen, M. Humbert, 2019, bioRxiv.

Maps of open chromatin highlight cell type–restricted patterns of regulatory sequence variation at hematological trait loci

P. Deloukas, C. A. Albers, W. Ouwehand, 2013, Genome research.

Multiple Loci Are Associated with White Blood Cell Phenotypes

Christian Gieger, Yusuke Nakamura, Kazuhiko Yamamoto, 2011, PLoS genetics.

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 .

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

C. Penkett, A. Harper, H. Watkins, 2020, European Journal of Human Genetics.

Mendelian randomization analysis of red cell distribution width in pulmonary arterial hypertension

Kenneth G. C. Smith, Andreas C. Themistocleous, K. Stirrups, 2019 .

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

Lynch, Gilmour, Sri V. V. Deevi, 2020 .

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

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

Next ‐ generation sequencing for the diagnosis of MYH9 ‐ RD

Sri V. V. Deevi, K. Stirrups, W. Ouwehand, 2019 .

regulatory sequence variation at hematological trait loci restricted patterns of − Maps of open chromatin highlight cell type Material Supplemental

P. Deloukas, C. A. Albers, W. Ouwehand, 2013 .

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Sylvia Richardson, Augusto Rendon, Sjoert B. G. Jansen, 2015, Genome Medicine.

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.

Blood pressure loci identified with a gene-centric array.

Jean Tichet, Tom R. Gaunt, Jackie A Cooper, 2011, American journal of human genetics.

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

Christian Gieger, Uwe Völker, Mario Falchi, 2009, Nature Genetics.

Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations

Kenneth G. C. Smith, J. Stephens, T. Vyse, 2022, Science Immunology.

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.

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

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

SMIM1 underlies the Vel blood group and influences red blood cell traits

Asif U. Tamuri, Gregory E. Jordan, C. A. Albers, 2013, Nature Genetics.

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.

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

Ania, Eleanor, Dewhurst, 2018 .

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.

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 Identi ﬁ es the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin De ﬁ ciency

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

Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size

Inês Barroso, Kourosh R. Ahmadi, Nicole Soranzo, 2009, PLoS genetics.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, M. Caulfield, 2020, Nature Communications.

Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease

Simon C. Potter, Thomas W. Mühleisen, Benjamin J. Wright, 2011, PLoS genetics.

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 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.

Apheresis donors and platelet function: inherent platelet responsiveness influences platelet quality

Chris I. Jones, W. Ouwehand, J. Stephens, 2008, Transfusion.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

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

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.

Production of calmodulin-tagged proteins in Drosophila Schneider S2 cells: a novel system for antigen production and phage antibody isolation.

W. Ouwehand, N. Watkins, J. Stephens, 2006, Journal of immunological methods.

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

Sri V. V. Deevi, H. Firth, J. Stephens, 2020, Clinical immunology.

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Judy H. Cho, John P. Ferguson, G. Wainrib, 2019, Scientific Reports.

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

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

macrothrombocytopenia cosegregates dominantly with abnormal proplatelet formation and integrin and 3 β IIb α membrane-proximal cytoplasmic salt bridge in the gene disrupts the conserved ITGB3 A nonsynonymous SNP in the

N. Watkins, N. Debili, J. Stephens, 2012 .

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.

W. Ouwehand, N. Watkins, W. Vainchenker, 2008, Blood.

Genetic evidence of assortative mating in humans

Tanya M. Teslovich, Ross M. Fraser, Brendan P. Zietsch, 2017, Nature Human Behaviour.

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

W. Ouwehand, K. Downes, J. Stephens, 2020, Haematologica.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

A. Need, A. Pagnamenta, C. Tregidgo, 2020, Nature Communications.

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

Ana Cvejic, Panos Deloukas, Matthew E Hurles, 2012, Nature Genetics.

Next‐generation sequencing for the diagnosis ofMYH9‐RD

Sri V. V. Deevi, K. Stirrups, W. Ouwehand, 2019 .

Common genetic variants do not associate with CAD in familial hypercholesterolemia

A. Zwinderman, W. Ouwehand, N. Soranzo, 2013, European Journal of Human Genetics.

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.

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

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

FTO genotype is associated with phenotypic variability of body mass index

Joel Eriksson, Joseph E. Powell, Andres Metspalu, 2012, Nature.

Title : Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

Eleanor, Willem, Ness, 2022 .

SARS-CoV-2 evolution during treatment of chronic infection

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

protein regulating platelet function Transcription profiling in human platelets reveals LRRFIP1 as a novel

Chris I. Jones, C. Rice, W. Ouwehand, 2010 .

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.

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size SORANZO

A. Hofman, A. Uitterlinden, P. Deloukas, 2019 .

Powerful Identification of Cis-regulatory SNPs in Human Primary Monocytes Using Allele-Specific Gene Expression

P. Deloukas, C. Rice, W. Ouwehand, 2012, PloS one.

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

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

Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans.

Kenneth G. C. Smith, M. Brown, É. Oksenhendler, 2018 .

Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome

Gregory E. Jordan, C. A. Albers, W. Ouwehand, 2011, Nature Genetics.

Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia.

W. Ouwehand, K. Downes, C. Penkett, 2020, Blood.

A genome-wide association study identifies three loci associated with mean platelet volume.

Christian Gieger, Thomas Meitinger, Henry Völzke, 2009, American journal of human genetics.

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.

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

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

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 .

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.

Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Graham M Lord, Günter P. Wagner, I. Ntalla, 2014, European Journal of Human Genetics.

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.

A new pedigree with thrombomodulin‐associated coagulopathy in which delayed fibrinolysis is partially attenuated by co‐inherited TAFI deficiency

K. Downes, J. Stephens, E. Turro, 2020, Journal of thrombosis and haemostasis : JTH.

GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

Sri V. V. Deevi, Kenneth G. C. Smith, K. Stirrups, 2018, bioRxiv.

Single domain antibodies against the collagen signalling receptor glycoprotein VI are inhibitors of collagen induced thrombus formation

W. Ouwehand, J. Stephens, S. Garner, 2009, Platelets.

A Genome-wide Association Study Identiﬁes Three Loci Associated with Mean Platelet Volume

C. Gieger, A. Peters, P. Deloukas, 2022 .

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Thomas W. Mühleisen, David M. Evans, M. Jarvelin, 2013, Nature Genetics.

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