Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …

Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed …

The development of next generation sequencing (NGS) has radically transformed the
scientific landscape, making it possible to sequence the exome of any given individual in a …

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 …

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 2,200 previously unpublished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 …

Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically
heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples …

The unmasking of recessive mutations by virtue of biparental inheritance of the same
ancestral haplotype on which they reside (autozygosity) has provided human geneticists …

Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying
monogenic disorders. Incomplete penetrance and variable expressivity suggest a …

In a clinical setting, the number of organ systems involved is crucial for the differential
diagnosis of congenital genetic disorders. When more than one organ system is involved, a …

The molecular genetic cause of over 3,000 monogenic disorders is currently unknown. This
review discusses how novel genomic techniques like Next‐Generation DNA Sequencing …