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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

Sanna-Cherchi, S, Khan, K, Westland, R, Krithivasan, P, Fievet, L, Rasouly, HM, Ionita-Laza, I, Capone, VP, Fasel, DA, Kiryluk, K, Kamalakaran, S, Bodria, M, Otto, EA, Sampson, MG, Gillies, CE, Vega-Warner, V, Vukojevic, K, Pediaditakis, I, Makar, GS, Mitrotti, A, Verbitsky, M, Martino, J, Liu, Q, Na, YJ, Goj, V, Ardissino, G, Gigante, M, Gesualdo, L, Janezcko, M, Zaniew, M, Mendelsohn, CL, Shril, S, Hildebrandt, F, van Wijk, JAE, Arapovic, A, Saraga, M, Allegri, L, Izzi, C, and Scolari, F et al. "Erratum: Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))." American Journal of Human Genetics 101, no. 6 (December 7, 2017): 1034-.

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Sanna-Cherchi, S, Khan, K, Westland, R, Krithivasan, P, Fievet, L, Rasouly, HM, Ionita-Laza, I, Capone, VP, Fasel, DA, Kiryluk, K, Kamalakaran, S, Bodria, M, Otto, EA, Sampson, MG, Gillies, CE, Vega-Warner, V, Vukojevic, K, Pediaditakis, I, Makar, GS, Mitrotti, A, Verbitsky, M, Martino, J, Liu, Q, Na, Y-J, Goj, V, Ardissino, G, Gigante, M, Gesualdo, L, Janezcko, M, Zaniew, M, Mendelsohn, CL, Shril, S, Hildebrandt, F, van Wijk, JAE, Arapovic, A, Saraga, M, Allegri, L, Izzi, C, and Scolari, F et al. "Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations." American journal of human genetics 101, no. 5 (November 2017): 789-802.

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Hutson, MR, Keyte, AL, Hernández-Morales, M, Gibbs, E, Kupchinsky, ZA, Argyridis, I, Erwin, KN, Pegram, K, Kneifel, M, Rosenberg, PB, Matak, P, Xie, L, Grandl, J, Davis, EE, Katsanis, N, Liu, C, and Benner, EJ. "Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects." Science signaling 10, no. 500 (October 10, 2017).

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Stankiewicz, P, Khan, TN, Szafranski, P, Slattery, L, Streff, H, Vetrini, F, Bernstein, JA, Brown, CW, Rosenfeld, JA, Rednam, S, Scollon, S, Bergstrom, KL, Parsons, DW, Plon, SE, Vieira, MW, Quaio, CRDC, Baratela, WAR, Acosta Guio, JC, Armstrong, R, Mehta, SG, Rump, P, Pfundt, R, Lewandowski, R, Fernandes, EM, Shinde, DN, Tang, S, Hoyer, J, Zweier, C, Reis, A, Bacino, CA, Xiao, R, Breman, AM, Smith, JL, Deciphering Developmental Disorders Study, , Katsanis, N, Bostwick, B, Popp, B, and Davis, EE et al. "Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features." American journal of human genetics 101, no. 4 (October 2017): 503-515.

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Helm, BM, Willer, JR, Sadeghpour, A, Golzio, C, Crouch, E, Vergano, SS, Katsanis, N, and Davis, EE. "Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome." Human genomics 11, no. 1 (July 19, 2017): 16-.

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Frosk, P, Arts, HH, Philippe, J, Gunn, CS, Brown, EL, Chodirker, B, Simard, L, Majewski, J, Fahiminiya, S, Russell, C, Liu, YP, FORGE Canada Consortium, , Canadian Rare Diseases: Models & Mechanisms Network, , Hegele, R, Katsanis, N, Goerz, C, Del Bigio, MR, and Davis, EE. "A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis." Journal of medical genetics 54, no. 7 (July 2017): 490-501.

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Davis, EE, and Katsanis, N. "Zebrafish: A Model System to Study the Architecture of Human Genetic Disease." In Animal Models for the Study of Human Disease: Second Edition, 651-670. June 28, 2017.

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Ta-Shma, A, Khan, TN, Vivante, A, Willer, JR, Matak, P, Jalas, C, Pode-Shakked, B, Salem, Y, Anikster, Y, Hildebrandt, F, Katsanis, N, Elpeleg, O, and Davis, EE. "Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome." American journal of human genetics 100, no. 4 (April 2017): 666-675.

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Shaw, ND, Brand, H, Kupchinsky, ZA, Bengani, H, Plummer, L, Jones, TI, Erdin, S, Williamson, KA, Rainger, J, Stortchevoi, A, Samocha, K, Currall, BB, Dunican, DS, Collins, RL, Willer, JR, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, CM, Chiang, C, An, Y, Ansari, M, Rainger, JK, Joss, S, Smith, JC, Lippincott, MF, Singh, SS, Patel, N, Jing, JW, Law, JR, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, and Jacobsen, C et al. "SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome." Nature genetics 49, no. 2 (February 2017): 238-248.

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Shaw, ND, Brand, H, Kupchinsky, ZA, Bengani, H, Plummer, L, Jones, TI, Erdin, S, Williamson, KA, Rainger, J, Stortchevoi, A, Samocha, K, Currall, BB, Dunican, DS, Collins, RL, Willer, JR, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, CM, Chiang, C, An, Y, Ansari, M, Rainger, JK, Joss, S, Smith, JC, Lippincott, MF, Singh, SS, Patel, N, Jing, JW, Law, JR, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, and Jacobsen, C et al. "IDENTIFICATION OF SMCHD1 MUTATIONS IN A SEVERE FORM OF KALLMANN SYNDROME (KS) WITH ABSENCE OF THE NOSE (ARHINIA) ATTESTS TO THE POWER OF EXTREME PHENOTYPES IN HUMAN REPRODUCTIVE GENE DISCOVERY." 2017.

Scholars@Duke

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