Publications
Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn 20, 995-1002 (2020).
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med 5, 57 (2013).
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen 56, 419-36 (2015).