Background Overgrowth conditions are a heterogeneous group of disorders characterised
by increased growth and variable features, including macrocephaly, distinctive facial …

In this review we discuss epigenetic disorders that result from aberrations in genes linked to
epigenetic regulation. We describe current testing methods for the detection of copy number …

This update expands the prior scientific statement on the relevance of genetics and
genomics for the prevention and treatment of CVDs. 2 In the earlier report, we focused on …

The goal of sequencing the entire human genome for $1000 is almost in sight. However, the
total costs including DNA sequencing, data management, and analysis to yield a clear data …

Purpose Artificial intelligence (AI) and variant prioritization tools for genomic variant analysis
are being rapidly developed for use in clinical diagnostic testing. However, their clinical …

Hereditary neuropathies comprise a wide variety of chronic diseases associated to more
than 80 genes identified to date. We herein examined 612 index patients with either a …

Whole exome sequencing is a powerful tool to detect novel pathogenic mutations in patients
with suspected mitochondrial disease. However, the interpretation of novel genetic variants …

Purpose: Targeted next-generation sequencing provides a remarkable opportunity to
identify variants in known disease genes, particularly in extremely heterogeneous disorders …

Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to
determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without …

Abstract We describe Exome Cancer Test v1. 0 (EXaCT-1), the first New York State-
Department of Health-approved whole-exome sequencing (WES)-based test for precision …