technical Presentations & Resources
PublicationsQuantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome
Annual Meeting of the American Society of Human Genetics, 2014Beyond Bias: Broadening the phenotype of genetic seizure disorders using very large gene panels
Expanding the Phenotype of Mitochondrial Disease From Last to First: Repositioning Genetic Testing in the Diagnostic Process,
National Society of Genetic Counselors, Annual Education Conference, 2014
ACMG Annual Meeting Clinical Genetics, 2013
Time to CHAT with your Patients? Can a Mutation in Choline-O-Acetyltransferase Exacerbate Mitochondrial Disease?
Annual Meeting of the American Society of Human Genetics, 2013
Mutations in the mitochondrial chaperone TRAP1 are associated with the triad of chronic fatigue, pain and gut dysmotility: Crazy, criminal, or just caught in the TRAP?
United Mitochondrial Disease Foundation Annual Meeting, 2013DNA Testing For Mitochondrial Disorders, Presentation, Dr. Richard G. Boles, M.D.
Next Generation Sequencing of a Thousand Nuclear Mitochondrial Genes, Dr. Richard G. Boles, M.D.
mtSEEK® Mitochondrial Genome Sequencing with Deletion Detection and Heteroplasmy Analysis
nucSEEK® Technical Note | Patient Study
epiSEEK® Technical Note|Patient Study
Resource GuideClinical Report Resource Guide
mtSEEK® Mitochondrial Genome Resource Guide