De novo mutations in protein-coding genes are a well-established cause of developmental
disorders 1 . However, genes known to be associated with developmental disorders account …

To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …

For next‐generation sequencing technologies, sufficient base‐pair coverage is the foremost
requirement for the reliable detection of genomic variants. We investigated whether whole‐…

Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic
diagnosis cumbersome. An exome-sequencing approach was developed in which data …

Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling
and molecular diagnosis. Testing of several single HI-related genes is laborious and …

Haploinsufficiency (HI) is the best characterized mechanism through which dominant mutations
exert their effect and cause disease. Non-haploinsufficiency (NHI) mechanisms, such as …

Linkage analysis combined with whole-exome sequencing in a large family with congenital
and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a …

Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome
yet important for the clinical management of the disease. Exome sequencing may provide a …

Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic
heterogeneous group of neurodevelopmental diseases. The identification of pathogenic …

BACKGROUND Despite advances in next generation DNA sequencing (NGS), NGS-based
single gene tests for diagnostic purposes require improvements in terms of completeness, …