Interstitial 6q deletions can cause a variable phenotype depending on the size and location
of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct …

The neuro-oncological ventral antigen 2 (NOVA2) protein is a major factor regulating neuron-specific
alternative splicing (AS), previously associated with an acquired neurologic …

Background and objective Whole-exome sequencing (WES) has now entered medical
practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the …

Purpose Congenital anomalies and intellectual disability (CA/ID) are a major diagnostic
challenge in medical genetics—50% of patients still have no molecular diagnosis after a long …

Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas
loss-of-function mutations in the same genes have distinct phenotypes. This appears to be …

Establishing causal links between non-coding variants and human phenotypes is an increasing
challenge. Here, we introduce a high-throughput mouse reporter assay for assessing …

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

In clinical exome sequencing (cES), the American College of Medical Genetics and Genomics
recommends limiting variant interpretation to established human-disease genes. The …

Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders,
facial features with macrocephaly, and a progressive phenotype with hearing loss and …

Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people
worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an …