K. Megy

发表

Ensembl 2008

Andreas Prlic, Andrew M. Jenkinson, Damian Smedley, 2007, Nucleic Acids Res..

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.

Allelic Landscape of Human Blood Cell Trait Variation and Links

William J. Astle, James R. Staley, J. Danesh, 2016 .

Genome Sequence of the Tsetse Fly (Glossina morsitans): Vector of African Trypanosomiasis

Geoffrey H. Siwo, Vineet K. Sharma, R. Wilson, 2014, Science.

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

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

Comparative genomics allows the discovery of cis-regulatory elements in mosquitoes

Karyn Megy, Xiaohui S. Xie, A. James, 2009, Proceedings of the National Academy of Sciences.

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.

Whole-genome sequencing of rare disease patients in a national healthcare system

William J. Astle, Willem H. Ouwehand, K. Stirrups, 2019, bioRxiv.

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

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

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

W. Ouwehand, K. Downes, P. Reitsma, 2019, Journal of thrombosis and haemostasis : JTH.

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

Courtney E. French, Soo-Mi Park, S. Ellard, 2022, HGG advances.

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

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

Reduced transfer coefficient of carbon monoxide in pulmonary arterial hypertension implicates rare protein-truncating variants in KDR

Yufeng Shen, K. Megy, S. Gräf, 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 .

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.

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 .

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Sri V. V. Deevi, Courtney E. French, K. Stirrups, 2019, Intensive Care Medicine.

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

K. Downes, K. Megy, C. Van Geet, 2019, Platelets.

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

A. Swift, K. Megy, W. Li, 2022, medRxiv.

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

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

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 .

How common are single gene mutations as a cause for lacunar stroke?

Sri V. V. Deevi, W. Ouwehand, K. Downes, 2019, Neurology.

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.

Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time

K. Downes, K. Megy, J. Heemskerk, 2022, British journal of haematology.

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

W. Ouwehand, K. Downes, D. Trégouët, 2021, Journal of thrombosis and haemostasis : JTH.

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.

Genome Sequence of Aedes aegypti, a Major Arbovirus Vector

Evgeny M. Zdobnov, Ian T. Paulsen, Jonathan Crabtree, 2007, Science.

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.

ArrayExpress update—simplifying data submissions

Robert Petryszak, Maria Keays, Marco Brandizi, 2014, Nucleic Acids Res..

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia

William J. Astle, K. Megy, A. Mumford, 2021, British journal of haematology.

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

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

Expression Atlas update—a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments

Nuno A. Fonseca, Robert Petryszak, Maria Keays, 2013, Nucleic Acids Res..

Ensembl 2009

Andrew M. Jenkinson, Sarah C. Ayling, Damian Smedley, 2008, Nucleic Acids Res..

Next‐generation sequencing for the diagnosis ofMYH9‐RD

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

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.

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.

Implementation of individualised polygenic risk score analysis: a test case of a family of four

K. Megy, A. Metastasio, E. Lehmann, 2021, BMC Medical Genomics.

Ensembl 2007

Andreas Prlic, Damian Smedley, Ewan Birney, 2006, Nucleic Acids Res..

Whole Genome Interpretation for a Family of Five

K. Megy, Vanisha Mistry, A. Metastasio, 2021, Frontiers in Genetics.

Expression Atlas update—an integrated database of gene and protein expression in humans, animals and plants

Nuno A. Fonseca, Elisabet Barrera, Robert Petryszak, 2015, Nucleic Acids Res..

VectorBase: improvements to a bioinformatics resource for invertebrate vector genomics

Gautier Koscielny, David Campbell, Scott J. Emrich, 2011, Nucleic Acids Res..

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.

Ensembl Genomes: Extending Ensembl across the taxonomic space

Gautier Koscielny, Uma Maheswari, Paul J. Kersey, 2009, Nucleic Acids Res..

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

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

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.

VectorBase: a data resource for invertebrate vector genomics

Gregory R. Madey, Ewan Birney, Peter Atkinson, 2008, Nucleic Acids Res..

Ensembl’s 10th year

Gautier Koscielny, Andrew M. Jenkinson, Damian Smedley, 2009, Nucleic Acids Res..

Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species

Gautier Koscielny, Uma Maheswari, Paul J. Kersey, 2011, 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 .

VectorBase: a home for invertebrate vectors of human pathogens

Evgeny M. Zdobnov, Gregory R. Madey, Ewan Birney, 2006, Nucleic Acids Res..

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.

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.

Effectiveness and costs of a stepwise versus an all‐in‐one approach to diagnose mild bleeding disorders

K. Downes, K. Megy, M. Joore, 2022, British journal of haematology.

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