Erica E. Davis Center for Human Disease Modeling, Department of Cell Biology Duke University Medical Center Biography Publications Institution JoVE Articles Erica E. Davis has not added a biography. If you are Erica E. Davis and would like to personalize this page please email our Author Liaison for assistance. Publications ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry American Journal of Human Genetics. Jul, 2013 | Pubmed ID: 23849778 TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities American Journal of Human Genetics. Jun, 2013 | Pubmed ID: 23810381 Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas PLoS Genetics. Apr, 2013 | Pubmed ID: 23599692 Delta-like 1 Homolog (dlk1): a Marker for Rhabdomyosarcomas Implicated in Skeletal Muscle Regeneration PloS One. 2013 | Pubmed ID: 23577150 Gene Therapy Rescues Cilia Defects and Restores Olfactory Function in a Mammalian Ciliopathy Model Nature Medicine. Sep, 2012 | Pubmed ID: 22941275 The Ciliopathies: a Transitional Model into Systems Biology of Human Genetic Disease Current Opinion in Genetics & Development. Jun, 2012 | Pubmed ID: 22632799 OTX2 Mutations Contribute to the Otocephaly-dysgnathia Complex Journal of Medical Genetics. Jun, 2012 | Pubmed ID: 22577225 Evolutionarily Assembled Cis-regulatory Module at a Human Ciliopathy Locus Science (New York, N.Y.). Feb, 2012 | Pubmed ID: 22282472 TMEM237 is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone American Journal of Human Genetics. Dec, 2011 | Pubmed ID: 22152675 KIF7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes Nature Genetics. Jun, 2011 | Pubmed ID: 21552264 TTC21B Contributes Both Causal and Modifying Alleles Across the Ciliopathy Spectrum Nature Genetics. Mar, 2011 | Pubmed ID: 21258341 CCDC39 is Required for Assembly of Inner Dynein Arms and the Dynein Regulatory Complex and for Normal Ciliary Motility in Humans and Dogs Nature Genetics. Jan, 2011 | Pubmed ID: 21131972 Mutation Analysis in Bardet-Biedl Syndrome by DNA Pooling and Massively Parallel Resequencing in 105 Individuals Human Genetics. Jan, 2011 | Pubmed ID: 21052717 Pitchfork Regulates Primary Cilia Disassembly and Left-right Asymmetry Developmental Cell. Jul, 2010 | Pubmed ID: 20643351 Mutations in TMEM216 Perturb Ciliogenesis and Cause Joubert, Meckel and Related Syndromes Nature Genetics. Jul, 2010 | Pubmed ID: 20512146 Individuals with Mutations in XPNPEP3, Which Encodes a Mitochondrial Protein, Develop a Nephronophthisis-like Nephropathy The Journal of Clinical Investigation. Mar, 2010 | Pubmed ID: 20179356 Epistasis Between RET and BBS Mutations Modulates Enteric Innervation and Causes Syndromic Hirschsprung Disease Proceedings of the National Academy of Sciences of the United States of America. Aug, 2009 | Pubmed ID: 19666486 A Common Allele in RPGRIP1L is a Modifier of Retinal Degeneration in Ciliopathies Nature Genetics. Jun, 2009 | Pubmed ID: 19430481 The Vertebrate Primary Cilium in Development, Homeostasis, and Disease Cell. Apr, 2009 | Pubmed ID: 19345185 Functional Interactions Between the Ciliopathy-associated Meckel Syndrome 1 (MKS1) Protein and Two Novel MKS1-related (MKSR) Proteins Journal of Cell Science. Mar, 2009 | Pubmed ID: 19208769 CC2D2A is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-associated Basal Body Protein CEP290 American Journal of Human Genetics. Nov, 2008 | Pubmed ID: 18950740 An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes PLoS Genetics. Mar, 2008 | Pubmed ID: 18369462 Hypomorphic Mutations in Syndromic Encephalocele Genes Are Associated with Bardet-Biedl Syndrome Nature Genetics. Apr, 2008 | Pubmed ID: 18327255 Cell Polarization Defects in Early Heart Development Circulation Research. Jul, 2007 | Pubmed ID: 17641235 Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-specific Branch of Chaperonin-related Proteins in Bardet-Biedl Syndrome American Journal of Human Genetics. Jan, 2007 | Pubmed ID: 17160889 The Ciliary Proteome Database: an Integrated Community Resource for the Genetic and Functional Dissection of Cilia Nature Genetics. Sep, 2006 | Pubmed ID: 16940995 The Emerging Complexity of the Vertebrate Cilium: New Functional Roles for an Ancient Organelle Developmental Cell. Jul, 2006 | Pubmed ID: 16824949 BBS10 Encodes a Vertebrate-specific Chaperonin-like Protein and is a Major BBS Locus Nature Genetics. May, 2006 | Pubmed ID: 16582908 In Vivo Modelagem do Morbid Genoma Humano utilizando Danio rerio Adrienne R. Niederriter1,2, Erica E. Davis1,3, Christelle Golzio1, Edwin C. Oh1, I-Chun Tsai1, Nicholas Katsanis1 1Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, 2Department of Evolutionary Anthropology, Duke University, 3Department of Pediatrics, Duke University Medical Center JoVE 50338 Biology
In Vivo Modelagem do Morbid Genoma Humano utilizando Danio rerio Adrienne R. Niederriter1,2, Erica E. Davis1,3, Christelle Golzio1, Edwin C. Oh1, I-Chun Tsai1, Nicholas Katsanis1 1Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, 2Department of Evolutionary Anthropology, Duke University, 3Department of Pediatrics, Duke University Medical Center JoVE 50338 Biology