Genetic studies in yeast and Drosophila led to identification of cyclin-dependent kinases
(CDKs), Polo-like kinases (PLKs) and Aurora kinases as essential regulators of mitosis …

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 2,200 previously unpublished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 …

A remarkable number of neurodevelopmental disorders have been linked to defects in tRNA
modifications. These discoveries place tRNA modifications in the spotlight as critical …

Despite large sequencing and data sharing efforts, previously characterized pathogenic
variants only account for a fraction of Mendelian disease patients, which highlights the need …

Intellectual disability (ID) is a measurable phenotypic consequence of genetic and
environmental factors. In this study, we prospectively assessed the diagnostic yield of …

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

Abstract tRNA are post-transcriptionally modified by chemical modifications that affect all
aspects of tRNA biology. An increasing number of mutations underlying human genetic …

Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable
progress has been made in understanding the molecular basis of these genetically …

Abstract Purpose Establishing links between Mendelian phenotypes and genes enables the
proper interpretation of variants therein. Autozygome, a rich source of homozygous variants …

Background Most autosomal recessive diseases are rare, but they collectively account for a
substantial proportion of disease burden, especially in consanguineous populations …