Timothy C. Cox

This study shows that Ift43 regulates Gli2 and Gli3 levels in cilia, affecting Hedgehog signaling and causing developmental defects in mice.

This study identifies a CNV involving three enhancers that drive bilateral constricted ear malformations by coordinating HMX1 expression through distinct regulatory mechanisms.

The paper identifies a critical noncoding superenhancer region essential for regulating anterior HOXA genes in craniofacial development, showing its deletion causes severe developmental defects in mice and a human patient.

The paper shows that correcting interferon receptor gene dosage in a mouse model of trisomy 21 rescues multiple key phenotypes associated with Down syndrome.

This study identifies TRIM1 as an E3 ligase that ubiquitinates LRRK2, regulating its localization, degradation, and toxicity in Parkinson's Disease.

This study shows that Gata3 disruption in mouse embryos causes facial abnormalities due to impaired separation of mandibular and maxillary domains during development.

The paper presents a dataset and analysis of spiking activity across multiple mouse visual areas, revealing that functional connectivity mirrors anatomical hierarchy.