We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations
for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to …

Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Purpose Diagnostic exome sequencing was immediately successful in diagnosing patients
in whom traditional technologies were uninformative. Herein, we provide the results from the …

Purpose Whole-exome sequencing (WES) can help identify known and novel pathogenic
molecular aberrations. Here, we examined the diagnostic yield of WES in population from …

BACKGROUND Ultrasonography-detected fetal sonographic abnormalities are identified in
2% to 3% of pregnancies. 1 Genetic diagnosis with amniocentesis or chorionic villus …

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

Massively parallel sequencing has revolutionized our understanding of Mendelian
disorders, and many novel genes have been discovered to cause disease phenotypes when …