Timothy J Aitman

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Timothy J



Publications in SciGraph latest 50 shown

  • 2018-12 C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity in NATURE COMMUNICATIONS
  • 2018 Multiplexed DNA Methylation Analysis of Target Regions Using Microfluidics (Fluidigm) in DNA METHYLATION PROTOCOLS
  • 2017-07 BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency in NATURE IMMUNOLOGY
  • 2016-12 De novo mutations in autosomal recessive congenital malformations in GENETICS IN MEDICINE
  • 2016-11 Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome in GENETICS IN MEDICINE
  • 2015-08 The zinc transporter ZIP12 regulates the pulmonary vascular response to chronic hypoxia in NATURE
  • 2014-12 Genomic structure of nucleotide diversity among Lyon rat models of metabolic syndrome in BMC GENOMICS
  • 2014-12 Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study in BMC MEDICAL GENETICS
  • 2014-06 Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases in ARTHRITIS RESEARCH & THERAPY
  • 2013-12 JunD/AP1 regulatory network analysis during macrophage activation in a rat model of crescentic glomerulonephritis in BMC SYSTEMS BIOLOGY
  • 2013-12 The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia in GENETICS IN MEDICINE
  • 2013-12 Combined ChIP-Seq and transcriptome analysis identifies AP-1/JunD as a primary regulator of oxidative stress and IL-1β synthesis in macrophages in BMC GENOMICS
  • 2013-04 Systematic biases in DNA copy number originate from isolation procedures in GENOME BIOLOGY
  • 2011-08 The future of model organisms in human disease research in NATURE REVIEWS GENETICS
  • 2010-09 Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-09 A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk in NATURE
  • 2009-10-28 Genetic Mapping and Positional Cloning in RAT GENOMICS
  • 2008-08 Identification of renal Cd36 as a determinant of blood pressure and risk for hypertension in NATURE GENETICS
  • 2008-05 Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass in NATURE GENETICS
  • 2008-05 Distribution and functional impact of DNA copy number variation in the rat in NATURE GENETICS
  • 2008-05 Progress and prospects in rat genetics: a community view in NATURE GENETICS
  • 2008-05 Jund is a determinant of macrophage activation and is associated with glomerulonephritis susceptibility in NATURE GENETICS
  • 2007-11 A gene harvest revealing the archeology and complexity of human disease in NATURE GENETICS
  • 2007-06 FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity in NATURE GENETICS
  • 2007-03 No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-08 Reply to “Normalization procedures and detection of linkage signal in genetical-genomics experiments” in NATURE GENETICS
  • 2006-06 Integrated gene expression profiling and linkage analysis in the rat in MAMMALIAN GENOME
  • 2006-02 Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans in NATURE
  • 2005-03 Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease in NATURE GENETICS
  • 2004-05 The rat comes clean in NATURE GENETICS
  • 2002-04 Radiation hybrid mapping of 70 rat genes from a data set of differentially expressed genes in MAMMALIAN GENOME
  • 2002-02 Molecular basis of the Cd36 chromosomal deletion underlying SHR defects in insulin action and fatty acid metabolism in MAMMALIAN GENOME
  • 2001-02 Transgenic rescue of defective Cd36 ameliorates insulin resistance in spontaneously hypertensive rats in NATURE GENETICS
  • 2000-06 Population genetics: Malaria susceptibility and CD36 mutation in NATURE
  • 1999-11 Use of biochip microarrays to discover genes for dyslipidaemia, insulin resistance and hypertension in rats and humans in NATURE GENETICS
  • 1999-08 35th Annual Meeting of the European Association for the Study of Diabetes in DIABETOLOGIA
  • 1999-05 A high-resolution radiation hybrid map of the proximal region of rat Chromosome 4 in MAMMALIAN GENOME
  • 1999-01 Identification of Cd36 (Fat) as an insulin-resistance gene causing defective fatty acid and glucose metabolism in hypertensive rats in NATURE GENETICS
  • 1997-07 Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin in DIABETOLOGIA
  • 1997-06 Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats in NATURE GENETICS
  • 1992-08 Linkage analysis of 84 microsatellite markers in intra- and interspecific backcrosses in MAMMALIAN GENOME
  • 1991-12 Additional microsatellite markers for mouse genome mapping in MAMMALIAN GENOME
  • 1991-12 Mononucleotide repeats are an abundant source of length variants in mouse genomic DNA in MAMMALIAN GENOME
  • 1991-06 Genetic analysis of autoimmune type 1 diabetes mellitus in mice in NATURE
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