This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …

Clinical Next-Generation Sequencing—A Wild Frontier The technologies and chemistries
underlying next-generation sequencing of DNA are evolving rapidly. This review describes …

Precision medicine aims to approach disease treatment and prevention with consideration
of the variability in genes, environment, and lifestyle for each person. This focus on the …

Background: The utility of whole-exome sequencing (WES) for the diagnosis and
management of adult-onset constitutional disorders has not been adequately studied …

Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and
pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic …

Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge
of clinical sequence variant interpretation. The demand for high‐quality interpretation …

Purpose Congenital anomalies and intellectual disability (CA/ID) are a major diagnostic
challenge in medical genetics—50% of patients still have no molecular diagnosis after a …