Background Neural tube defects (NTDs), the second most frequent cause of human
congenital abnormalities, are debilitating birth defects due to failure of neural tube closure. It …

Neural tube defects (NTDs) are a classic example of preventable birth defects for which
there is a proven‐effective intervention, folic acid (FA); however, further methods of …

Dear Editor, Neural tube defects (NTDs) are a class of major structural malformations
affecting the brain and spinal cord. They are among the most common congenital anomalies …

The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) is a GGGGCC repeat expansion in the C9orf72 gene. We developed a …

General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63
(TFIIIC63). It binds to DNA to recruit another transcription factor, TFIIIB, and RNA polymerase …

In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …

The corpus callosum is a bundle of axon fibres that connects the two hemispheres of the
brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a …

Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an
important step towards understanding the pathophysiology of these disorders. Whole …

Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all
tissues and enriched in the brain. MORC2 protein is composed of a catalytic ATPase …

Abstract Background Neural tube defects (NTDs) are the second most common complex
birth defect, yet, our understanding of the genetic contribution to their development remains …