subject area of
- 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