J. Hughes

发表

Systematic determination of genetic network architecture

G. Church, R. J. Cho, M. Campbell, 1999, Nature Genetics.

Computational identification of cis-regulatory elements associated with groups of functionally related genes in Saccharomyces cerevisiae.

G. Church, Saeed Tavazoie, J. Hughes, 2000, Journal of molecular biology.

Finding DNA regulatory motifs within unaligned noncoding sequences clustered by whole-genome mRNA quantitation

G. Church, J. Hughes, F. P. Roth, 1998, Nature Biotechnology.

Are protein–protein interfaces more conserved in sequence than the rest of the protein surface?

Daniel R. Caffrey, E. Huang, J. Hughes, 2004, Protein science : a publication of the Protein Society.

Conservation of DNA regulatory motifs and discovery of new motifs in microbial genomes.

G. Church, J. Hughes, A. McGuire, 2000, Genome research.

Physiochemical drug properties associated with in vivo toxicological outcomes.

J. Hughes, Enoch S. Huang, David A. Price, 2008, Bioorganic & medicinal chemistry letters.

A computational analysis of whole-genome expression data reveals chromosomal domains of gene expression

G. Church, J. Hughes, R. Mitra, 2000, Nature Genetics.

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

Christopher W. Whelan, R. Handsaker, D. MacArthur, 2020, bioRxiv.

Mutation Detection in an Antibody-Producing Chinese Hamster Ovary Cell Line by Targeted RNA Sequencing

J. Hughes, Zhong Liu, N. Murgolo, 2016, BioMed research international.

Correction: ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans

J. Hughes, J. McElwee, J. Lyons, 2017, The Journal of experimental medicine.

ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans

J. Hughes, J. McElwee, Yuan Zhang, 2017, The Journal of experimental medicine.

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

J. Hughes, J. McElwee, Y. Zhang, 2015, Science.

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency

J. Hughes, J. McElwee, P. Wingfield, 2017, Nature Immunology.

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin

T. Clark, J. Hughes, P. Hegde, 2020, PloS one.

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

J. Hughes, J. McElwee, D. Reich, 2014, The Journal of allergy and clinical immunology.

Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

J. Hughes, J. McElwee, S. Holland, 2014 .

Magnesium Restores Activity to Peripheral Blood Cells in a Patient With Functionally Impaired Interleukin-2-Inducible T Cell Kinase

W. Wilson, J. Hughes, J. McElwee, 2019, Front. Immunol..

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Andrew J. Oler, Ryan J. Carlson, J. Hughes, 2016, Nature Genetics.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

J. B. Oliveira, J. Hughes, J. McElwee, 2014, Science.

Activated STING in a vascular and pulmonary syndrome.

Ha Won Kim, J. Hughes, J. McElwee, 2014, The New England journal of medicine.

siRNA Off-Target Effects Can Be Reduced at Concentrations That Match Their Individual Potency

Daniel R. Caffrey, J. Hughes, A. Seymour, 2011, PloS one.

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

J. Hughes, J. McElwee, M. Biancalana, 2014, The Journal of experimental medicine.

Analytical Validation of a Hybrid Capture–Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA

Doron Lipson, Bernard Fendler, Jeffrey P. Gregg, 2018, The Journal of molecular diagnostics : JMD.

Estimation of kinship coefficient in structured and admixed populations using sparse sequencing data

Dermot F. Reilly, J. Hughes, E. Tai, 2017, PLoS genetics.

PFRED: A computational platform for siRNA and antisense oligonucleotides design

Tianhong Zhang, Qing Cao, Simone Sciabola, 2020, bioRxiv.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Elisha D O Roberson, Carol J. Saunders, Lina Karam, 2015, Blood.

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

Andrew J. Oler, J. Hughes, J. McElwee, 2017, The Journal of experimental medicine.

Driver Mutation Variant Allele Frequency (VAF) in Circulating Tumor DNA and Association with Clinical Outcome in Non-Small Cell Lung Cancer (NSCLC) Patients with EGFR- and KRAS-Mutated Tumors.

J. Hughes, P. Hegde, L. Dennis, 2022, The Journal of molecular diagnostics : JMD.

Abstract 2231: Utility of plasma tumor fraction (TF) to inform sensitivity of FoundationOne Liquid CDx (F1LCDx)

J. Hughes, P. Hegde, O. Gjoerup, 2021, Molecular and Cellular Biology/Genetics.

Genomic profiling of cell-free circulating tumor DNA in patients with colorectal cancer and its fidelity to the genomics of the tumor biopsy.

J. Gregg, J. Hughes, V. Miller, 2019, Journal of gastrointestinal oncology.

Immune deficiencies, infection, and systemic immune disordersAutosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

J. Hughes, D. Reich, S. Holland, 2014 .

Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms

J. Hughes, J. McElwee, P. Korošec, 2022, medRxiv.