Kathryn C. Chatfield

Chromosome Breakpoints

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

Yulia Mostovoy

• Feb 1, 2021 • 1 min read

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

Marisa W. Friederich

• Feb 1, 2017 • 1 min read

Intellectual Disability

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

Hung-Chun Yu

• May 1, 2016 • 1 min read

3-Hydroxyacyl CoA Dehydrogenases

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Kathryn C. Chatfield

• Mar 1, 2015 • 1 min read