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Recognition of the gene implicated in a Mendelian disorder subsequently leads to an expansion of potential phenotypes associated with mutations in that gene as patients with features beyond the core… (More)
BackgroundCopy number variations (CNVs) are genomic structural variants that are found in healthy populations and have been observed to be associated with disease susceptibility. Existing methods for… (More)
PurposeStructural variation (SV) is associated with inherited diseases. Next-generation sequencing (NGS) is an efficient method for SV detection because of its high-throughput, low cost, and… (More)
PURPOSE The current diagnostic testing algorithm for Lynch syndrome (LS) is complex and often involves multiple follow-up germline and somatic tests. We aimed to describe the results of paired… (More)
5579Background: Germline and somatic genetic testing have traditionally been offered separately; however, the clinical applications of these tests are now converging with continued FDA approval of ...
e13112Background: As the uptake of genetic testing continues to increase, clinicians have questions regarding ethnic-specific mutation rates. Founder mutations explain some variability between ethnic… (More)