Joshua D Smith


Ontology type: schema:Person     


Person Info

NAME

Joshua D

SURNAME

Smith

Publications in SciGraph latest 50 shown

  • 2017-06 Statin-induced expression change of INSIG1 in lymphoblastoid cell lines correlates with plasma triglyceride statin response in a sex-specific manner in THE PHARMACOGENOMICS JOURNAL
  • 2016-12 Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP in BMC MEDICAL GENETICS
  • 2016-08 Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-06 Statin-induced expression change of INSIG1 in lymphoblastoid cell lines correlates with plasma triglyceride statin response in a sex-specific manner in THE PHARMACOGENOMICS JOURNAL
  • 2015-09 Mutation of ATF6 causes autosomal recessive achromatopsia in HUMAN GENETICS
  • 2014-04 Mutations in TJP2 cause progressive cholestatic liver disease in NATURE GENETICS
  • 2013-10 A statin-dependent QTL for GATM expression is associated with statin-induced myopathy in NATURE
  • 2012-04-04 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations in NATURE
  • 2010-09 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome in NATURE GENETICS
  • 2006-06 Allelic spectrum of the natural variation in CRP in HUMAN GENETICS
  • 2004-06 The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster in HUMAN GENETICS
  • 2003-04 Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans in NATURE GENETICS
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