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Author Details

Christopher J Penkett
National Health Service Blood and Transplant, University of Cambridge
1997
45
28
PMIDPaper TitleJournal TitlePublished Year
37541188Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.Am J Hum Genet2023
35051265CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia.Blood2022
35211795Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.Pediatr Nephrol2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
33491795Genetic determinants of ferritin, haemoglobin levels and haemoglobin trajectories: results from Donor InSight.Vox Sang2021
31562665Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.Hum Mutat2020
32888494The Polygenic and Monogenic Basis of Blood Traits and Diseases.Cell2020
32686758Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.Eur J Hum Genet2020
32573726Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.Blood2020
32750130Development and validation of a universal blood donor genotyping platform: a multinational prospective study.Blood Adv2020
31064749Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood2019
31217188Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.Blood2019
31123110Germline selection shapes human mitochondrial DNA diversity.Science2019
29391254Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.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
28064200Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.Blood2017
28703137Platelet function is modified by common sequence variation in megakaryocyte super enhancers.Nat Commun2017
28041643Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet2017
27084890A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.Blood2016
26560832Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.Ophthalmology2016
26912466A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Blood2016
26936507A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Sci Transl Med2016
26420295Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.Eur J Immunol2015
21045060PDBe: Protein Data Bank in Europe.Nucleic Acids Res2011
22025602Distinct epigenomic features in end-stage failing human hearts.Circulation2011
19858099PDBe: Protein Data Bank in Europe.Nucleic Acids Res2010
20680401Straightforward and complete deposition of NMR data to the PDBe.J Biomol NMR2010
19270702Distinct transcriptional outputs associated with mono- and dimethylated histone H3 arginine 2.Nat Struct Mol Biol2009
19809795The NMR restraints grid at BMRB for 5,266 protein and nucleic acid PDB entries.J Biomol NMR2009
18003976Multiple pathways differentially regulate global oxidative stress responses in fission yeast.Mol Biol Cell2008
18488015Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution.Nature2008
18586348Rapidly regulated genes are intron poor.Trends Genet2008
17898715Arginine methylation at histone H3R2 controls deposition of H3K4 trimethylation.Nature2007
16845020YOGY: a web-based, integrated database to retrieve protein orthologs and associated Gene Ontology terms.Nucleic Acids Res2006
17072893Simplified primer design for PCR-based gene targeting and microarray primer database: two web tools for fission yeast.Yeast2006
17053780Genome-wide characterization of fission yeast DNA replication origins.EMBO J2006
15829570Impairment of the TFIIH-associated CDK-activating kinase selectively affects cell cycle-regulated gene expression in fission yeast.Mol Biol Cell2005
15195092Periodic gene expression program of the fission yeast cell cycle.Nat Genet2004
18629145Navigating public microarray databases.Comp Funct Genomics2004
12854975Whole-genome microarrays of fission yeast: characteristics, accuracy, reproducibility, and processing of array data.BMC Genomics2003
10715108Identification of residues involved in the interaction of Staphylococcus aureus fibronectin-binding protein with the (4)F1(5)F1 module pair of human fibronectin using heteronuclear NMR spectroscopy.Biochemistry2000
10380226Characterisation of side-chain conformational preferences in a biologically active but unfolded protein.Pac Symp Biocomput1999
9836601Structural and dynamical characterization of a biologically active unfolded fibronectin-binding protein from Staphylococcus aureus.Biochemistry1998
9398523NMR analysis of main-chain conformational preferences in an unfolded fibronectin-binding protein.J Mol Biol1997
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Collaborators

University of Cambridge
Co-authored papers 16
University of Cambridge
Co-authored papers 15
Co-authored papers 13
Icahn School of Medicine at Mount Sinai
Co-authored papers 11
University College London
Co-authored papers 11
University of Cambridge
Co-authored papers 9
Center for Molecular and Vascular Biology, University of Leuven
Co-authored papers 9
University of Cambridge
Co-authored papers 8
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 8
Cambridge University Hospitals NHS Foundation
Co-authored papers 7
Genomics England Ltd
Co-authored papers 7
University of Cambridge
Co-authored papers 6
Co-authored papers 6
Co-authored papers 6
University of Bristol
Co-authored papers 6
Co-authored papers 5
Co-authored papers 5
Co-authored papers 5
Institute of Ophthalmology, University College London
Co-authored papers 5
Co-authored papers 5
Co-authored papers 4
Queen Mary University of London, United Kingdom Healx Ltd
Co-authored papers 4
Co-authored papers 4
University of Oxford
Co-authored papers 4
Institute of Ophthalmology, University College London
Co-authored papers 4
Co-authored papers 4
Wellcome Sanger Institute
Co-authored papers 4
Co-authored papers 4
Co-authored papers 4
University of Cambridge
Co-authored papers 4