Nearly half a century has passed since the discovery of cytoplasmic inheritance of human
chloramphenicol resistance. The inheritance was then revealed to take place maternally by …

Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Microglia phenotypes are highly regulated by the brain environment, but the transcriptional
networks that specify the maturation of human microglia are poorly understood. Here, we …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

Mitochondria play a vital role in maintaining cellular energy homeostasis, regulating
apoptosis, and controlling redox signaling. Dysfunction of mitochondria has been implicated …

The concept of a mitochondrial disorder was initially described in 1962, in a patient with
altered energy metabolism. Over time, mitochondrial energy metabolism has been …

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Alzheimer's disease (AD) is one of the most prevalent age-related neurodegenerative
diseases and accounts for the majority of dementia cases worldwide. Tremendous ongoing …

Mitochondria play diverse roles in mammalian physiology. The architecture, activity, and
physiological functions of mitochondria in oocytes are largely different from those in somatic …