Abstract tRNAs are key adaptor molecules that decipher the genetic code during translation
of mRNAs in protein synthesis. In contrast to the traditional view of tRNAs as ubiquitously …

At least 150 human proteins are glycosylphosphatidylinositol-anchored proteins (GPI-APs).
The protein moiety of GPI-APs lacking transmembrane domains is anchored to the plasma …

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

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 …

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 2,200 previously unpublished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 …

Background Whole-exome sequencing has transformed gene discovery and diagnosis in
rare diseases. Translation into disease-modifying treatments is challenging, particularly for …

Development of the human nervous system involves complex interactions among
fundamental cellular processes and requires a multitude of genes, many of which remain to …

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 …

Importance Autosomal recessive inherited neurodevelopmental disorders are highly
heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives …