Fengyuan Hu

发表

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.

Understanding Regulation of Metabolism through Feasibility Analysis

Marcel J. T. Reinders, Fengyuan Hu, Bas Teusink, 2012, PloS one.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

HumanMine: advanced data searching, analysis and cross-species comparison

Julie M. Sullivan, R. Lyne, S. Contrino, 2022, bioRxiv.

A minimal role for synonymous variation in human disease

James E. DiCarlo, D. MacArthur, M. Hurles, 2022, 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.

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.

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

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

InterMine: extensive web services for modern biology

Sergio Contrino, Gos Micklem, Fengyuan Hu, 2014, Nucleic Acids Res..

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Sri V. V. Deevi, Katherine R. Smith, B. Linghu, 2021, Nature.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

metabolicMine: an integrated genomics, genetics and proteomics data warehouse for common metabolic disease research

Gos Micklem, Fengyuan Hu, Richard N. Smith, 2013, Database J. Biol. Databases Curation.

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.

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 .

InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data

Sergio Contrino, Gos Micklem, Fengyuan Hu, 2012, Bioinform..

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.

Codon affinity in mitochondrial DNA shapes evolutionary and somatic fitness

Jacob C. Ulirsch, Sri V. V. Deevi, Ansuman T. Satpathy, 2023, bioRxiv.

modMine: flexible access to modENCODE data

Sergio Contrino, Gos Micklem, Fengyuan Hu, 2011, Nucleic Acids Res..

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

Cross‐organism analysis using InterMine

Sergio Contrino, Fengyuan Hu, Monte Westerfield, 2015, Genesis.

Prognostic value of extrahepatic metastasis on colon cancer with liver metastasis: a retrospective cohort study

Shuheng Bai, Yanli Yan, Juan Ren, 2023, Frontiers in Oncology.

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

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

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.

A comparative study of RNA-seq analysis strategies

Jürgen Jänes, Fengyuan Hu, Alex Lewin, 2015, Briefings Bioinform..

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2023, Journal of Clinical Immunology.

Genetic architecture of telomere length in 462,675 UK Biobank whole-genome sequences

N. Samani, R. Dhindsa, M. Pangalos, 2023, medRxiv.

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

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

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

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

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

Rare variant associations with plasma protein levels in the UK Biobank

J. Harrow, R. Dhindsa, I. Tachmazidou, 2023, Nature.