Mark J Rieder

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Mark J



Publications in SciGraph latest 50 shown

  • 2017-05 Immunosequencing identifies signatures of cytomegalovirus exposure history and HLA-mediated effects on the T cell repertoire in NATURE GENETICS
  • 2015-12 Annotation of pseudogenic gene segments by massively parallel sequencing of rearranged lymphocyte receptor loci in GENOME MEDICINE
  • 2013-12 Using synthetic templates to design an unbiased multiplex PCR assay in NATURE COMMUNICATIONS
  • 2013-10 A statin-dependent QTL for GATM expression is associated with statin-induced myopathy in NATURE
  • 2013-08 Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes in THE PHARMACOGENOMICS JOURNAL
  • 2013-03 Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants in NATURE
  • 2012-08 Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis in NATURE GENETICS
  • 2012-08 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome in NATURE GENETICS
  • 2012-04-04 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations in NATURE
  • 2012-04 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations in NATURE GENETICS
  • 2012-02 Detection of structural variants and indels within exome data in NATURE METHODS
  • 2011-06 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations in NATURE GENETICS
  • 2010-09 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome in NATURE GENETICS
  • 2009-12 An excess of rare genetic variation in ABCE1 among Yorubans and African-American individuals with HIV-1 in GENES & IMMUNITY
  • 2008-12 Sequence variation in the human transcription factor gene POU5F1 in BMC GENETICS
  • 2008-09 Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2008-07 Estimating coverage and power for genetic association studies using near-complete variation data in NATURE GENETICS
  • 2008-02 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans in NATURE GENETICS
  • 2008 The Functional Consequences of Polymorphisms in the Human PON1 Gene in THE PARAOXONASES: THEIR ROLE IN DISEASE DEVELOPMENT AND XENOBIOTIC METABOLISM
  • 2007-03 TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects in HUMAN GENETICS
  • 2006-08 Efficient selection of tagging single-nucleotide polymorphisms in multiple populations in HUMAN GENETICS
  • 2006-06 Allelic spectrum of the natural variation in CRP in HUMAN GENETICS
  • 2005-05 CYP2C9 Haplotype Structure in European American Warfarin Patients and Association with Clinical Outcomes in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2004-07 Evidence for substantial fine-scale variation in recombination rates across the human genome in NATURE GENETICS
  • 2003-04 Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans in NATURE GENETICS
  • 1999-05 Sequence variation in the human angiotensin converting enzyme in NATURE GENETICS
  • 1996-07 Mathematical analysis of type-I and type-IIb muscle fiber force generation in renal hypertension in ANNALS OF BIOMEDICAL ENGINEERING
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