Autozygosity, or the inheritance of two copies of an ancestral allele, has the potential to not
only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to …

Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …

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 2,200 previously unpublished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 …

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of
photoreceptor function and contributes significantly to the etiology of blindness globally but …

Homozygosity mapping (HM), also known as autozygosity mapping, was originally used to
map genes underlying homozygous autosomal recessive Mendelian diseases in patients …

Background Long-read whole genome sequencing (lrWGS) has the potential to address the
technical limitations of exome sequencing in ways not possible by short-read WGS …

Background Embryonic lethality is a recognized phenotypic expression of individual gene
mutations in model organisms. However, identifying embryonic lethal genes in humans is …

Background Primordial dwarfism is a state of extreme prenatal and postnatal growth
deficiency, and is characterized by marked clinical and genetic heterogeneity. Results Two …

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

Intellectual disability is a common and highly heterogeneous disorder etiologically. In a
multiplex consanguineous family, we applied autozygosity mapping and exome sequencing …