Erica E. Davis

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle.

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia.

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Cell polarization defects in early heart development.

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.

The vertebrate primary cilium in development, homeostasis, and disease.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Pitchfork regulates primary cilia disassembly and left-right asymmetry.

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

The ciliopathies: a transitional model into systems biology of human genetic disease.

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration.

Mutations in LRRC50 predispose zebrafish and humans to seminomas.

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry.