Developmental abnormalities of the cerebellum are among the most recognized structural
brain malformations in human prenatal imaging. Yet reliable information regarding their …

Congenital brain malformations are abnormalities present at birth that can result from
developmental disruptions at various embryonic or fetal stages. The clinical presentation is …

People with schizophrenia are enriched for rare coding variants in genes associated with
neurodevelopmental disorders, particularly autism spectrum disorders and intellectual …

Exome sequencing (ES) has become one of the important diagnostic tools in clinical
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …

Protein-truncating variants (PTVs) near the 3′ end of genes may escape nonsense-
mediated decay (NMD). PTVs in the NMD-escape region (PTVescs) can cause Mendelian …

Despite a generally better prognosis than high-grade glioma (HGG), recurrence and
malignant progression are the main causes for the poor prognosis and difficulties in the …

Purpose Incomplete penetrance is observed for most monogenic diseases. However, for
neurodevelopmental disorders, the interpretation of single and multi-nucleotide variants …

Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape.
CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical …

Synovial sarcoma is characterized by variable epithelial differentiation and specific SS18-
SSX gene fusions. The diagnosis is primarily based on phenotype, but fusion gene detection …

Background Molecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based
on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for …