Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This statement …

… Gropman: drafting/revising the manuscript, study concept or design, acquisition of data. Dr.
Ashwal: drafting/revising the manuscript, study concept or design, analysis or interpretation of …

The urea cycle disorders constitute a group of rare congenital disorders caused by a deficiency
of the enzymes or transport proteins required to remove ammonia from the body. Via a …

Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …

Aminoglycosides have previously been shown to suppress nonsense mutations, allowing
translation of full‐length proteins in vitro and in animal models. In the mdx mouse, where …

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the landscape …

Somatic chromosomal mosaicism is a well‐established cause for birth defects, mental
retardation, and, in some instances, specific genetic syndromes. We have developed a clinically …

Since 1975, Dr. Kenneth Swaiman’s classic text has been the reference of choice for
authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of …

One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes. …

… with atomoxetine would indicate that this should not be a first-line strategy for children
with Smith-Magenis syndrome owing to increased incidence of psychotic behaviors (Gropman, …