Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and
promoting patient and family well-being. However, families with a rare genetic disease …

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 …

Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic
overlap complicating the clinical diagnosis. Whole‐exome sequencing (WES) has increased …

Background At least 50% of patients with suspected Mendelian disorders remain
undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding …

Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and
predisposition to cancer. However, identification of variants that impact splicing remains a …

We describe a case of life-threatening disseminated coccidioidomycosis in a previously
healthy child. Like most patients with disseminated coccidioidomycosis, this child had no …

The technological advances in diagnostics and therapy of primary immunodeficiency are
progressing at a fast pace. This review examines recent developments in the field of inborn …

ABSTRACT X‐linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic
variants in the PHEX gene, affects both sexes of all ages and results in elevated serum …