Steven J M Jones

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Steven J M



Publications in SciGraph latest 50 shown

  • 2018-12 Tigmint: correcting assembly errors using linked reads from large molecules in BMC BIOINFORMATICS
  • 2018-12 A new quinoline-based chemical probe inhibits the autophagy-related cysteine protease ATG4B in SCIENTIFIC REPORTS
  • 2018-12 A-to-I miR-378a-3p editing can prevent melanoma progression via regulation of PARVA expression in NATURE COMMUNICATIONS
  • 2018-12 Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma in NATURE COMMUNICATIONS
  • 2018-12 Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma in NPJ PRECISION ONCOLOGY
  • 2018-05 Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018-01 Modern drug design: the implication of using artificial neuronal networks and multiple molecular dynamic simulations in JOURNAL OF COMPUTER-AIDED MOLECULAR DESIGN
  • 2017-12 Increasing quality, throughput and speed of sample preparation for strand-specific messenger RNA sequencing in BMC GENOMICS
  • 2017-12 Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability in BMC GENOMICS
  • 2017-07 The whole-genome landscape of medulloblastoma subtypes in NATURE
  • 2017-05 Spatial heterogeneity in medulloblastoma in NATURE GENETICS
  • 2017-02 CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer in NATURE GENETICS
  • 2016-12 rAAV-compatible MiniPromoters for restricted expression in the brain and eye in MOLECULAR BRAIN
  • 2016-07 A somatic reference standard for cancer genome sequencing in SCIENTIFIC REPORTS
  • 2016-05 The Atlantic salmon genome provides insights into rediploidization in NATURE
  • 2016-01 Divergent clonal selection dominates medulloblastoma at recurrence in NATURE
  • 2015-12 VisRseq: R-based visual framework for analysis of sequencing data in BMC BIOINFORMATICS
  • 2015-12 Retrospective review using targeted deep sequencing reveals mutational differences between gastroesophageal junction and gastric carcinomas in BMC CANCER
  • 2015-12 MEG3 long noncoding RNA regulates the TGF-β pathway genes through formation of RNA–DNA triplex structures in NATURE COMMUNICATIONS
  • 2015-12 Epigenetic and transcriptional determinants of the human breast in NATURE COMMUNICATIONS
  • 2015-12 LINKS: Scalable, alignment-free scaffolding of draft genomes with long reads in GIGASCIENCE
  • 2015-12 Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development in BMC GENOMICS
  • 2015-12 The genomic and transcriptomic landscape of anaplastic thyroid cancer: implications for therapy in BMC CANCER
  • 2015-06 A novel mutation in EED associated with overgrowth in JOURNAL OF HUMAN GENETICS
  • 2015-03 Reduced adenosine-to-inosine miR-455-5p editing promotes melanoma growth and metastasis in NATURE CELL BIOLOGY
  • 2015-02 Integrative analysis of 111 reference human epigenomes in NATURE
  • 2014-12 Evolution of gene structure in the conifer Picea glauca: a comparative analysis of the impact of intron size in BMC PLANT BIOLOGY
  • 2014-12 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-11 Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm in NATURE GENETICS
  • 2014-10 Genetic Counseling in Direct-to-Consumer Exome Sequencing: A Case Report in JOURNAL OF GENETIC COUNSELING
  • 2014-07-23 Comprehensive molecular characterization of gastric adenocarcinoma in NATURE
  • 2014-07-09 Comprehensive molecular profiling of lung adenocarcinoma in NATURE
  • 2013-12 Distinct roles of KAP1, HP1 and G9a/GLP in silencing of the two-cell-specific retrotransposon MERVL in mouse ES cells in EPIGENETICS & CHROMATIN
  • 2013-12 Identifying cancer mutation targets across thousands of samples: MuteProc, a high throughput mutation analysis pipeline in BMC BIOINFORMATICS
  • 2013-12 Non-coding-regulatory regions of human brain genes delineated by bacterial artificial chromosome knock-in mice in BMC BIOLOGY
  • 2013-12 Transcriptome resources and functional characterization of monoterpene synthases for two host species of the mountain pine beetle, lodgepole pine (Pinus contorta) and jack pine (Pinus banksiana) in BMC PLANT BIOLOGY
  • 2013-05-01 Integrated genomic characterization of endometrial carcinoma in NATURE
  • 2013-03 Draft genome of the mountain pine beetle, Dendroctonus ponderosae Hopkins, a major forest pest in GENOME BIOLOGY
  • 2013-03 The genetic landscape of high-risk neuroblastoma in NATURE GENETICS
  • 2013-03 Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma in ACTA NEUROPATHOLOGICA
  • 2012-09-23 Comprehensive molecular portraits of human breast tumours in NATURE
  • 2012-08 Subgroup-specific structural variation across 1,000 medulloblastoma genomes in NATURE
  • 2012-06 The clonal and mutational evolution spectrum of primary triple-negative breast cancers in NATURE
  • 2012-04 Genetic basis of transcriptome differences between the founder strains of the rat HXB/BXH recombinant inbred panel in GENOME BIOLOGY
  • 2012-03 Drug repositioning for personalized medicine in GENOME MEDICINE
  • 2012-02 Ab initio parameterization of YFF1, a universal force field for drug-design applications in JOURNAL OF MOLECULAR MODELING
  • 2011-12 Gene expression profiling of oxidative stress response of C. elegans aging defective AMPK mutants using massively parallel transcriptome sequencing in BMC RESEARCH NOTES
  • 2011-12 Updated genome assembly and annotation of Paenibacillus larvae, the agent of American foulbrood disease of honey bees in BMC GENOMICS
  • 2011-09 Detection and Management of Hypothyroidism Following Thyroid Lobectomy: Evaluation of a Clinical Algorithm in ANNALS OF SURGICAL ONCOLOGY
  • 2011-08 Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma in NATURE
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