Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

Background: Despite decades of research, little clarity exists regarding pathogenic
mechanisms related to schizophrenia. Investigations on the disease biology of …

Importance; Copy number variants (CNVs) classified as pathogenic are identified in 10% to
15% of patients referred for neurodevelopmental disorders. However, their effect sizes on …

Genomic copy number variants (CNVs) are routinely identified and reported back to patients
with neuropsychiatric disorders, but their quantitative effects on essential traits such as …

Intercellular karyotypic variability has been a focus of genetic research for more than 50
years. It has been repeatedly shown that chromosome heterogeneity manifesting as …

Abstract DNA methyltransferase type 1 (DNMT1) is a major enzyme involved in maintaining
the methylation pattern after DNA replication. Mutations in DNMT1 have been associated …

Psychiatric disorders such as schizophrenia and bipolar disorder are caused by complex
gene–environment interactions. While recent advances in genomic technologies have …

Lysosomes are key organelles maintaining cellular homeostasis in health and disease.
Here, we report the identification of N‐deacetylase and N‐sulfotransferase 3 (NDST3) as a …

Background Somatic chromosomal mosaicism is the presence of cell populations differing
with respect to the chromosome complements (eg normal and abnormal) in an individual …

It is hard to believe that all the cells of a human brain share identical genomes. Indeed,
single cell genetic studies have demonstrated intercellular genomic variability in the normal …