This case series of children with autism spectrum disorder compares the diagnostic yield of chromosomal microarray analysis vs whole-exome sequencing.
This case series involving children and young adults with cancer whose genomic sequencing results were the basis for clinical case recommendations charaterizes the number of clinically actionable findings and resulting patient outcomes.
To determine the molecular basis of multiple respiratory chain complex deficiencies, Taylor and coauthors used a whole-exome sequencing approach in 53 patients with biochemical evidence of multiple respiratory chain complex defects but no primary pathogenic mitochondrial DNA mutation.
This study describes the clinical and genetic characteristics of pregnant women with maternal-fetal karyotype discordance on noninvasive prenatal testing attributable to subsequently diagnosed malignancy.
This observation trial reports that whole-exome sequencing provides a potential molecular diagnosis for patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations, contributing to disease.
Lee and coauthors report on initial clinical indications for clinical exome sequencing referrals and molecular diagnostic rates for different indications and for different test types.
A 43-year-old woman with stage IA endometrial cancer had her tumor screened for DNA mismatch repair proteins and microsatellite instability and had 1 absent immunostain. How do you interpret the test results?