Now showing items 1-5 of 5

    • D-DEMØ, a distinct phenotype caused by ATP1A3 mutations. 

      Prange, Lyndsey; Pratt, Milton; Herman, Kristin; Schiffmann, Raphael; Mueller, David M; McLean, Melissa; Mendez, Mary Moya; ... (14 authors) (Neurology. Genetics, 2020-10)
      Objective:To describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, ...
    • Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals. 

      Rotger, Margalida; Dang, Kristen K; Fellay, Jacques; Heinzen, Erin L; Feng, Sheng; Descombes, Patrick; Shianna, Kevin V; ... (13 authors) (PLoS Pathog, 2010-02-26)
      There is great interindividual variability in HIV-1 viral setpoint after seroconversion, some of which is known to be due to genetic differences among infected individuals. Here, our focus is on determining, genome-wide, ...
    • Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. 

      Cirulli, Elizabeth T; Singh, Abanish; Shianna, Kevin V; Ge, Dongliang; Smith, Jason P; Maia, Jessica M; Heinzen, Erin L; ... (10 authors) (Genome Biol, 2010)
      BACKGROUND: There is considerable interest in the development of methods to efficiently identify all coding variants present in large sample sets of humans. There are three approaches possible: whole-genome sequencing, ...
    • The characterization of twenty sequenced human genomes. 

      Pelak, Kimberly; Shianna, Kevin V; Ge, Dongliang; Maia, Jessica M; Zhu, Mingfu; Smith, Jason P; Cirulli, Elizabeth T; ... (25 authors) (PLoS Genet, 2010-09-09)
      We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals ...
    • Tissue-specific genetic control of splicing: implications for the study of complex traits. 

      Heinzen, Erin L; Ge, Dongliang; Cronin, Kenneth D; Maia, Jessica M; Shianna, Kevin V; Gabriel, Willow N; Welsh-Bohmer, Kathleen A; ... (10 authors) (PLoS Biol, 2008-12-23)
      Numerous genome-wide screens for polymorphisms that influence gene expression have provided key insights into the genetic control of transcription. Despite this work, the relevance of specific polymorphisms to in vivo expression ...