Genes, X-Linked

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  Subject Areas on Research

  • A New Resource for Characterizing X-linked Genes in Drosophila melanogaster: Systematic Coverage and Subdivision of the X Chromosome with Nested, Y-linked Duplications. 
  • A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 
  • An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. 
  • Association test for X-linked QTL in family-based designs. 
  • Bimodal quantitative relationships between histone modifications for X-linked and autosomal loci. 
  • Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. 
  • Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 
  • Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? 
  • Rare coding variants and X-linked loci associated with age at menarche. 
  • Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant. 
  • X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design. 
  • X-chromosome hyperactivation in mammals via nonlinear relationships between chromatin states and transcription. 
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  Keywords of People

  • Li, Yi-Ju, Professor of Biostatistics & Bioinformatics, Biostatistics & Bioinformatics