Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

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

The rapid development of next-generation sequencing (NGS) technology, including
advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …

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

Mendelian and complex genetic trait diseases continue to burden and affect society both
socially and economically. The lack of effective tests has hampered diagnosis thus, the …

Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

The practice of genomic medicine stands to revolutionize our approach to medical care, and
to realize this goal will require discovery of the relationship between rare variation at each of …

Short stature remains the most common reason for referral to a pediatric Endocrinologist and
its management remains a challenge. One of the main controversies is the diagnosis of …

Rare genetic disorders, when considered together, are relatively common. Despite
advancements in genetics and genomics technologies as well as increased understanding …

In many cases of chronic kidney disease, the cause of disease remains unknown despite a
thorough nephrologic workup. Genetic testing has revolutionized many areas of medicine …