BRSK1 is required for neural development, but its role in human disease is poorly understood. We report 10 individuals with seven BRSK1 variants who exhibit neurodevelopmental delay, sometimes accompa...

TRranscription EXport (TREX) is an evolutionarily conserved multifunctional complex with essential roles in regulating transcription, mRNA export, gen…

GAD67 and GAD65, encoded by GAD1 and GAD2, respectively, are the two isoforms of glutamic acid decarboxylase (GAD), the enzyme responsible for γ-amino…

Gene-based therapies are being developed for retinal diseases, including RS1-related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign w...

Genes associated with rare neurodevelopmental disorders are still being identified. The authors identify ZNF536 as a developmental disease-associated gene, describing a cohort of affected individuals ...

SMAD6 encodes an inhibitory SMAD protein that modulates BMP and TGF-β signaling. Heterozygous pathogenic variants in SMAD6 have been primarily associated with aortic valve disease, radioulnar synosto....

Using RNA and mESC functional analyses of 166 BRCA1 exon 18 variants, this ENIGMA study defines evidence-based thresholds for interpreting variants that induce skipping of this in-frame exon. The find...

Background BHLHE22 encodes a basic helix-loop-helix transcription factor expressed exclusively in the retina and central nervous system and functions as an important regulator of neuronal differentiat...

Neurodevelopmental disorders encompass a large group of conditions, many of which can be explained by genetic variants. KIRREL3 has previously been associated with neurodevelopmental disorders and is...

Congenital microcephaly and lissencephaly spectrum disorders are characterized by disrupted neuronal proliferation and migration, often driven by underlying genetic variants. Here, we identified and c...

By integrating clinical phenotyping, association studies, molecular functional studies, and Drosophila modeling, the authors demonstrate that de novo variants in the RNA-binding protein ELAVL2 cause a...