Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective
cellular energy production due to abnormal oxidative phosphorylation (oxphos). Primary …

Recurrent pregnancy loss (RPL) has become an important reproductive health issue
worldwide. RPL affects about 2%–3% of reproductive-aged women, and makes serious …

Genetic testing has the potential to guide the prevention and treatment of disease in a
variety of settings, and recent technical advances have greatly increased our ability to …

Meniere's disease (MD) is a chronic disorder of the inner ear defined by sensorineural
hearing loss, tinnitus and episodic vertigo, and familial MD is observed in 5–15% of sporadic …

Background The loss of ovarian function in women, referred to as premature ovarian
insufficiency (POI), is associated with a series of concomitant diseases. POI is genetically …

As prenatal exome sequencing becomes integrated into clinical care, it is critical that
providers caring for women with fetal anomalies recognize not only the benefits, but also the …

Genetic testing in a multisite clinical trial network for inherited eye conditions is described in
this retrospective review of data collected through eyeGENE®, the National Ophthalmic …

Chronic pain is a prevalent disease with increasing clinical challenges. Genome-wide
association studies in chronic pain patients have identified hundreds of common pathogenic …

The excessive hospital mortality associated with acute respiratory distress syndrome
(ARDS) in adults mandates an urgent need for developing new therapies and tools for the …

Background It remains unclear whether disease course in multiple sclerosis (MS) is
influenced by genetic polymorphisms. Here, we aimed to identify genetic variants associated …