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Erica Ellen Davis, PhD

Associate Professor of Pediatrics
Assistant Professor of Cell Biology
Associate Professor of Cell Biology
Member of the Duke Cancer Institute
Campus mail: 300 North Duke Street, DUMC, Durham, NC 27701
Phone: (919) 684-2018
Email address: erica.davis@duke.edu

Two key questions thematically underscore my research in the Center for Human Disease Modeling at Duke University: First of all, how can variation at the DNA level be functionally interpreted beyond the resolution of genetics arguments alone? Secondly, once empowered with functional information about genetic variants, how can pathogenic alleles be mapped back to disease phenotypes? Using the ciliary disease module as a model system of investigation, we are using multidisciplinary tactics to address these questions and continue to harness these approaches toward the further dissection of the architecture of human genetic disease. Moreover, we have applied the in vivo tools and lessons learned from ciliary phenotypes affecting the renal, craniofacial, and central nervous systems to interrogate rare pediatric disorders characterized by these phenotypic hallmarks.

Education and Training

  • Postdoctoral Research Fellow, Cell Biology, Duke University, 2009 - 2010
  • Postdoctoral Research Fellow, Institute Of Genetic Medicine, Johns Hopkins University, 2005 - 2009
  • Ph.D., University of Liege (Belgium), 2005

Publications

Ansar, Muhammad, Farid Ullah, Sohail A. Paracha, Darius J. Adams, Abbe Lai, Lynn Pais, Justyna Iwaszkiewicz, et al. “Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features..” Am J Hum Genet 104, no. 6 (June 6, 2019): 1073–87. https://doi.org/10.1016/j.ajhg.2019.04.002.

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Niihori, Tetsuya, Koki Nagai, Atsushi Fujita, Hirofumi Ohashi, Nobuhiko Okamoto, Satoshi Okada, Atsuko Harada, et al. “Germline-Activating RRAS2 Mutations Cause Noonan Syndrome..” Am J Hum Genet 104, no. 6 (June 6, 2019): 1233–40. https://doi.org/10.1016/j.ajhg.2019.04.014.

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Khan, Kamal, Michael Zech, Angela T. Morgan, David J. Amor, Matej Skorvanek, Tahir N. Khan, Michael S. Hildebrand, et al. “Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia..” Genet Med, April 30, 2019. https://doi.org/10.1038/s41436-019-0523-0.

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Schwartz, C. E., Y. R. Lee, K. Khan, K. Armfield-Uhas, J. W. Norris, K. Gripp, K. A. Aleck, et al. “ARMFIELD XLID SYNDROME HAS A DISTINCT PHENOTYPE (SHORT STATURE, SMALL HANDS/ FEET, OCULAR ANOMALIES, SEIZURES), RESULTS FROM MUTATIONS IN FAM50A, AND IS A SPLICEOSOMOPATHY.” In American Journal of Medical Genetics Part A, 179:711–711. WILEY, 2019.

Scholars@Duke

Helbig, Katherine L., Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, et al. “De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias..” Am J Hum Genet 104, no. 3 (March 7, 2019). https://doi.org/10.1016/j.ajhg.2019.02.015.

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Vora, Neeta L., Julie K. Holsclaw, Kelly Gilmore, and Erica E. Davis. “A Multidisciplinary Strategy for Identification of Novel Candidate Genes in Prenatal Cases with Congenital Anomalies of the Kidney and Urinary Tract..” In Reproductive Sciences, 26:84A-84A. SAGE PUBLICATIONS INC, 2019.

Scholars@Duke

Qiu, Yuqi, Thomas Arbogast, Sandra Martin Lorenzo, Honying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, et al. “Oligogenic Effects of 16p11.2 Copy Number Variation on Craniofacial Development,” January 29, 2019.

Scholars@Duke

Khan, Tahir N., Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie T. McDonald, William B. Gallentine, et al. “Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies..” Am J Hum Genet 104, no. 1 (January 3, 2019): 94–111. https://doi.org/10.1016/j.ajhg.2018.11.017.

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Bundy, Joseph L., Blair R. Anderson, Ludmila Francescatto, Melanie E. Garrett, Karen L. Soldano, Marilyn J. Telen, Erica E. Davis, and Allison E. Ashley-Koch. “RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes..” In Plos One, Vol. 14, 2019. https://doi.org/10.1371/journal.pone.0217042.

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Heydeck, Westley, Lorraine Fievet, Erica E. Davis, and Nicholas Katsanis. “The complexity of the cilium: spatiotemporal diversity of an ancient organelle..” Curr Opin Cell Biol 55 (December 2018): 139–49. https://doi.org/10.1016/j.ceb.2018.08.001.

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