C. Penkett

发表

Dynamic repertoire of a eukaryotic transcriptome surveyed at single-nucleotide resolution

I. Goodhead, V. Wood, J. Bähler, 2008, Nature.

Genome‐wide characterization of fission yeast DNA replication origins

Jürg Bähler, Paul Nurse, P. Nurse, 2006, The EMBO journal.

Periodic gene expression program of the fission yeast cell cycle

P. Lio’, A. Brazma, K. Kivinen, 2004, Nature Genetics.

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.

Distinct Epigenomic Features in End-Stage Failing Human Hearts

David A. Knowles, P. Lio’, T. Down, 2011, Circulation.

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.

The Polygenic and Monogenic Basis of Blood Traits and Diseases

William J. Astle, Andrew D. Johnson, Cassandra N. Spracklen, 2020, Cell.

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

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

NMR analysis of main-chain conformational preferences in an unfolded fibronectin-binding protein.

C. Dobson, C. Penkett, L. J. Smith, 1997, Journal of molecular biology.

Germline selection shapes human mitochondrial DNA diversity

David L. Bennett, Kenneth G. C. Smith, Katherine R. Smith, 2019, Science.

The Polygenic and Monogenic Basis of Blood Traits and Diseases

William J. Astle, Andrew D. Johnson, P. Elliott, 2020, Cell.

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

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

Opinion: The germicidal effect of ambient air (open-air factor) revisited

A. Mellouki, T. Wallington, C. Penkett, 2021, Atmospheric Chemistry and Physics.

Opinion: The Germicidal Effect of Ambient Air (Open Air Factor) Revisited

R. A. Cox, A. Mellouki, T. Wallington, 2021 .

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 .

Title : Germline selection shapes the landscape of human mitochondrial DNA

Kenneth G. C. Smith, Katherine R. Smith, K. Stirrups, 2019 .

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.

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 .

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.

PDBe: Protein Data Bank in Europe

Ingvar C. Lagerstedt, Alan W. Sousa da Silva, Robert A. Slowley, 2010, Nucleic Acids Res..

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Next ‐ generation sequencing for the diagnosis of MYH9 ‐ RD

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

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.

Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing

J. Todd, C. Wallace, C. Penkett, 2015, European journal of immunology.

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

C. Penkett, K. Megy, M. Saleem, 2022, Pediatric Nephrology.

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 .

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.

K. Stirrups, C. Penkett, G. Holder, 2016, Ophthalmology.

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.

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.

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.

Rapidly regulated genes are intron poor.

J. Bähler, C. Penkett, D. Jeffares, 2008, Trends in genetics : TIG.

Structural and dynamical characterization of a biologically active unfolded fibronectin-binding protein from Staphylococcus aureus.

C. Dobson, C. Penkett, R. Smith, 1998, Biochemistry.

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

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

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Kathleen Stirrups, Isabelle Meyts, Ernest Turro, 2018, The Journal of allergy and clinical immunology.

Next‐generation sequencing for the diagnosis ofMYH9‐RD

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

Impairment of the TFIIH-associated CDK-activating kinase selectively affects cell cycle-regulated gene expression in fission yeast.

J. Bähler, S. Watt, C. Penkett, 2005, Molecular biology of the cell.

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.

K. Stirrups, C. Penkett, K. Megy, 2020, Journal of the American Society of Nephrology : JASN.

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

William J. Astle, Jonathan M. Cairns, Benjamin B. Sun, 2017, Nature Communications.

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.

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

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

Multiple pathways differentially regulate global oxidative stress responses in fission yeast.

Dongrong Chen, W. Toone, N. Jones, 2008, Molecular biology of the cell.

Navigating Public Microarray Databases

Jürg Bähler, Christopher J. Penkett, J. Bähler, 2004, Comparative and functional genomics.

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.

Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia.

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

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.

SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds

Richard T. Lee, C. Penkett, I. Karakikes, 2021, Frontiers in Genetics.

Whole-genome microarrays of fission yeast: characteristics, accuracy, reproducibility, and processing of array data

Jürg Bähler, Gabriella Rustici, Juan Mata, 2003, BMC Genomics.

YOGY: a web-based, integrated database to retrieve protein orthologs and associated Gene Ontology terms

Jürg Bähler, James A. Morris, Valerie Wood, 2006, Nucleic Acids Res..

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

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

PDBe: Protein Data Bank in Europe

Sameer Velankar, Gerard J. Kleywegt, Wim F. Vranken, 2009, Nucleic Acids Res..

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 .

CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythaemia

Amber L. Couzens, R. Read, D. Adams, 2022, Blood.

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.

Simplified primer design for PCR-based gene targeting and microarray primer database: two web tools for fission yeast

J. Bähler, C. Penkett, Zoë Birtle, 2006, Yeast.

Arginine methylation at histone H3R2 controls deposition of H3K4 trimethylation

Jürg Bähler, Matthias Mann, Helena Santos-Rosa, 2007, Nature.

Opinion: The germicidal effect of ambient air (open-air factor) revisited

A. Mellouki, T. Wallington, C. Penkett, 2021, Atmospheric Chemistry and Physics.

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.

Distinct transcriptional outputs associated with mono- and dimethylated histone H3 arginine 2

Helena Santos-Rosa, Tony Kouzarides, Michael A Singer, 2009, Nature Structural &Molecular Biology.

Straightforward and complete deposition of NMR data to the PDBe

Sameer Velankar, Gerard J. Kleywegt, Tim J. Stevens, 2010, Journal of biomolecular NMR.

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

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

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