Sean Humphray

Ontology type: schema:Person     

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Publications in SciGraph latest 50 shown

  • 2017-12 X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 in NEUROGENETICS
  • 2017-12 Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma in NPJ GENOMIC MEDICINE
  • 2015-12 Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer in NATURE COMMUNICATIONS
  • 2015-09 Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma in NATURE GENETICS
  • 2015-07 Factors influencing success of clinical genome sequencing across a broad spectrum of disorders in NATURE GENETICS
  • 2014-12 Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel in NATURE COMMUNICATIONS
  • 2014-12 Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden in NATURE COMMUNICATIONS
  • 2014-02 Intraclonal heterogeneity is a critical early event in the development of myeloma and precedes the development of clinical symptoms in LEUKEMIA
  • 2013-04-17 The zebrafish reference genome sequence and its relationship to the human genome in NATURE
  • 2013-04-07 Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA in NATURE
  • 2013-02 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas in NATURE GENETICS
  • 2012-11 Analyses of pig genomes provide insight into porcine demography and evolution in NATURE
  • 2011-12 The Medicago genome provides insight into the evolution of rhizobial symbioses in NATURE
  • 2010-01 A comprehensive catalogue of somatic mutations from a human cancer genome in NATURE
  • 2008-11 Accurate whole human genome sequencing using reversible terminator chemistry in NATURE
  • 2008-03 A systematic library for comprehensive overexpression screens in Saccharomyces cerevisiae in NATURE METHODS
  • 2007-12 Definition of the zebrafish genome using flow cytometry and cytogenetic mapping in BMC GENOMICS
  • 2007-08 Lessons learned from the initial sequencing of the pig genome: comparative analysis of an 8 Mb region of pig chromosome 17 in GENOME BIOLOGY
  • 2007-07 A high utility integrated map of the pig genome in GENOME BIOLOGY
  • 2006-06 Identification of a single killer immunoglobulin-like receptor (KIR) gene in the porcine leukocyte receptor complex on chromosome 6q in IMMUNOGENETICS
  • 2006-04 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage in NATURE
  • 2005-12 Genomic sequence of the pathogenic and allergenic filamentous fungus Aspergillus fumigatus in NATURE
  • 2004-05 DNA sequence and analysis of human chromosome 9 in NATURE
  • 2003-10 The DNA sequence and analysis of human chromosome 6 in NATURE
  • 2002-10 Sequence of Plasmodium falciparum chromosomes 1, 3–9 and 13 in NATURE
  • 2001-06-10 Contiguation of Bacterial Clones in GENOMICS PROTOCOLS
  • 2001-02 The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X in NATURE
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