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  • Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity  Academic Article
  • Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing  Academic Article
  • Chip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospects  Academic Article
  • Contribution of mutations in known Mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma  Academic Article
  • Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2  Academic Article
  • Genomic analysis of smoothened inhibitor resistance in basal cell carcinoma  Academic Article
  • High points and hurdles in the translation of genomics  Academic Article
  • High-resolution mutational profiling suggests the genetic validity of glioblastoma patient-derived pre-clinical models  Academic Article
  • Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations  Academic Article
  • Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: An immediate source for thousands of new mouse models  Academic Article
  • Molecular autopsy for sudden unexpected death  Academic Article
  • Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans  Academic Article
  • Ocular phenotype of a family with FAM161A-associated retinal degeneration  Academic Article
  • Omics Pipe: a community-based framework for reproducible multi-omics data analysis  Academic Article
  • Personalized circulating tumor DNA biomarkers dynamically predict treatment response and survival in gynecologic cancers  Academic Article
  • Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease  Academic Article
  • Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma  Academic Article
  • Serine and lipid metabolism in macular disease and peripheral neuropathy  Academic Article
  • Variant calling in low-coverage whole genome sequencing of a Native American population sample  Academic Article
  • Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites  Academic Article

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