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Author Details

Jonathan Stephens
2006
52
33
PMIDPaper TitleJournal TitlePublished Year
37541188Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.Am J Hum Genet2023
35764313Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.Thromb Haemost2022
35960817Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.Sci Immunol2022
32573726Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.Blood2020
32353633ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.Clin Immunol2020
31562665Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.Hum Mutat2020
32473076Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry.Transfusion2020
32693407Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Blood2020
32686758Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.Eur J Hum Genet2020
31064749Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood2019
31235509Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.J Exp Med2019
31217188Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.Blood2019
29477724Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.J Allergy Clin Immunol2018
29909963Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.Am J Hum Genet2018
30526634Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.Genome Med2018
28041643Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet2017
28064200Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.Blood2017
26936507A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Sci Transl Med2016
26912466A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Blood2016
27084890A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.Blood2016
24433337Variation in thromboxane B2 concentrations in serum and plasma in patients taking regular aspirin before and after clopidogrel therapy.Platelets2015
25732814Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis.Cell Rep2015
25949529Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Genome Med2015
24879339Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.PLoS One2014
24219970Common genetic variants do not associate with CAD in familial hypercholesterolemia.Eur J Hum Genet2014
23570689Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.Genome Res2013
23563607Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.Nat Genet2013
23563608SMIM1 underlies the Vel blood group and influences red blood cell traits.Nat Genet2013
23222517Seventy-five genetic loci influencing the human red blood cell.Nature2012
22366785Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.Nat Genet2012
22982992FTO genotype is associated with phenotypic variability of body mass index.Nature2012
23300628Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.PLoS One2012
22139419New gene functions in megakaryopoiesis and platelet formation.Nature2011
21765411Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.Nat Genet2011
22100073Blood pressure loci identified with a gene-centric array.Am J Hum Genet2011
21738480Multiple loci are associated with white blood cell phenotypes.PLoS Genet2011
20360734Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.Nature2010
20833976Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function.Blood2010
20935630Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.Nat Genet2010
20570915Genetic determinants of major blood lipids in Pakistanis compared with Europeans.Circ Cardiovasc Genet2010
19915572Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.Nat Genet2009
19221038A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.Blood2009
19079261Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.Nat Genet2009
19429868A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.Blood2009
19343178Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.PLoS Genet2009
19110211A genome-wide association study identifies three loci associated with mean platelet volume.Am J Hum Genet2009
19459133Single domain antibodies against the collagen signalling receptor glycoprotein VI are inhibitors of collagen induced thrombus formation.Platelets2009
19820697A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.Nat Genet2009
18065693A 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.Blood2008
18194381Apheresis donors and platelet function: inherent platelet responsiveness influences platelet quality.Transfusion2008
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University of Cambridge
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Icahn School of Medicine at Mount Sinai
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German Research Center for Cardiovascular Disease (DZHK)
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University of Cambridge
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