In the retina, rod and cone photoreceptors form distinct connections with different classes of
downstream bipolar cells. However, the molecular mechanisms responsible for their …

De novo mutations arising on the paternal chromosome make the largest known contribution
to autism risk, and correlate with paternal age at the time of conception. The recurrence risk …

Neuronal migration defects, including pachygyria, are among the most severe developmental
brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, …

Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting
the myelin sheath. We have used whole-exome sequencing in patients with undetermined …

Throughout development and aging, human cells accumulate mutations resulting in genomic
mosaicism and genetic diversity at the cellular level. Mosaic mutations present in the …

Kinesin proteins are critical for various cellular functions such as intracellular transport and
cell division, and many members of the family have been linked to monogenic disorders and …

Malformations of cortical development (MCD) are neurological conditions involving focal
disruptions of cortical architecture and cellular organization that arise during embryogenesis, …

The tRNA splicing endonuclease is a highly evolutionarily conserved protein complex, involved
in the cleavage of intron-containing tRNAs. In human it consists of the catalytic subunits …

Ubiquitination is a posttranslational modification that regulates many cellular processes
including protein degradation, intracellular trafficking, cell signaling, and protein-protein …

To investigate the diagnostic and clinical utility of a partially automated reanalysis pipeline,
forty-eight cases of seriously ill children with suspected genetic disease who did not receive …