Chatfield KC

Latest

• Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
• 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
• 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
• Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing