A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.

Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.

TMEM95, a protein localized to the sperm acrosome cap, is essential for fertilization.

Forward genetic screens define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission.

Genetic and molecular analyses show that FOXC1 and FOXC2 play a role in controlling lymphatic valve maintenance as key mediators of mechanotransduction to control cytoskeletal organization and RhoA/ROCK signaling.

SLC7A8 a neutral amino acid transporter has a key role in the maintenance of hearing during aging and its absence causes early onset of hearing loss.

Quantitative genetic analyses reveal remarkably broad genetic variation underlies the requirement for two critical regulatory inputs into a core embryonic gene regulatory network within one animal species.

Migrating skin carries the amphid rosette vertex anteriorly to extrude and position dendrites.

Ancient features of the p53 regulatory network are coupled to the stem cell compartment in normal and pathologic contexts.

A molecular mechanism that involves highly conserved transcription factors enables cholinergic motor neurons of the nematode Caenorhabditis elegans to become and remain functional.