ZFIN ID: ZDB-PERS-170816-3
Davis, Erica
Email: erica.davis@duke.edu
URL: https://chdm.duke.edu/
Affiliation: Center for Human Disease Modeling
Address: Duke University Medical Center Center for Human Disease Modeling Physical/Courier Address: 300 North Duke Street Carmichael Building, Room 47-104 Durham, NC 27701 Mailing Address: DUMC Box 104775 Durham, NC 27701
Country: United States
Phone: 919-684-2018
Fax: 919-684-1627
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Bundy, J.L., Anderson, B.R., Francescatto, L., Garrett, M.E., Soldano, K.L., Telen, M.J., Davis, E.E., Ashley-Koch, A.E. (2019) RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes. PLoS One. 14:e0217042
Niihori, T., Nagai, K., Fujita, A., Ohashi, H., Okamoto, N., Okada, S., Harada, A., Kihara, H., Arbogast, T., Funayama, R., Shirota, M., Nakayama, K., Abe, T., Inoue, S.I., Tsai, I.C., Matsumoto, N., Davis, E.E., Katsanis, N., Aoki, Y. (2019) Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. American journal of human genetics. 104(6):1233-1240
Ansar, M., Ullah, F., Paracha, S.A., Adams, D.J., Lai, A., Pais, L., Iwaszkiewicz, J., Millan, F., Sarwar, M.T., Agha, Z., Shah, S.F., Qaisar, A.A., Falconnet, E., Zoete, V., Ranza, E., Makrythanasis, P., Santoni, F.A., Ahmed, J., Katsanis, N., Walsh, C., Davis, E.E., Antonarakis, S.E. (2019) Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. American journal of human genetics. 104(6):1073-1087
Khan, T.N., Khan, K., Sadeghpour, A., Reynolds, H., Perilla, Y., McDonald, M.T., Gallentine, W.B., Baig, S.M., Task Force for Neonatal Genomics, Davis, E.E., Katsanis, N. (2019) Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. American journal of human genetics. 104:94-111
Tsai, I.C., McKnight, K., McKinstry, S.U., Maynard, A.T., Tan, P.L., Golzio, C., White, C.T., Price, D.J., Davis, E.E., Amrine-Madsen, H., Katsanis, N. (2018) Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome. Scientific Reports. 8:10779
Hall, G., Lane, B.M., Khan, K., Pediaditakis, I., Xiao, J., Wu, G., Wang, L., Kovalik, M.E., Chryst-Stangl, M., Davis, E.E., Spurney, R.F., Gbadegesin, R.A. (2018) The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.. Journal of the American Society of Nephrology : JASN. 29(8):2110-2122
Guissart, C., Latypova, X., Rollier, P., Khan, T.N., Stamberger, H., McWalter, K., Cho, M.T., Kjaergaard, S., Weckhuysen, S., Lesca, G., Besnard, T., Õunap, K., Schema, L., Chiocchetti, A.G., McDonald, M., de Bellescize, J., Vincent, M., Van Esch, H., Sattler, S., Forghani, I., Thiffault, I., Freitag, C.M., Barbouth, D.S., Cadieux-Dion, M., Willaert, R., Guillen Sacoto, M.J., Safina, N.P., Dubourg, C., Grote, L., Carré, W., Saunders, C., Pajusalu, S., Farrow, E., Boland, A., Karlowicz, D.H., Deleuze, J.F., Wojcik, M.H., Pressman, R., Isidor, B., Vogels, A., Van Paesschen, W., Al-Gazali, L., Al Shamsi, A.M., Claustres, M., Pujol, A., Sanders, S.J., Rivier, F., Leboucq, N., Cogné, B., Sasorith, S., Sanlaville, D., Retterer, K., Odent, S., Katsanis, N., Bézieau, S., Koenig, M., Davis, E.E., Pasquier, L., Küry, S. (2018) Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. American journal of human genetics. 102:744-759
Cristofoli, F., Devriendt, K., Davis, E.E., Van Esch, H., Vermeesch, J.R. (2018) Novel CASK mutations in cases with syndromic microcephaly. Human Mutation. 39(7):993-1001
Sanna-Cherchi, S., Khan, K., Westland, R., Krithivasan, P., Fievet, L., Rasouly, H.M., Ionita-Laza, I., Capone, V.P., Fasel, D.A., Kiryluk, K., Kamalakaran, S., Bodria, M., Otto, E.A., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Vukojevic, K., Pediaditakis, I., Makar, G.S., Mitrotti, A., Verbitsky, M., Martino, J., Liu, Q., Na, Y.J., Goj, V., Ardissino, G., Gigante, M., Gesualdo, L., Janezcko, M., Zaniew, M., Mendelsohn, C.L., Shril, S., Hildebrandt, F., van Wijk, J.A.E., Arapovic, A., Saraga, M., Allegri, L., Izzi, C., Scolari, F., Tasic, V., Ghiggeri, G.M., Latos-Bielenska, A., Kiryluk, A.M., Mane, S., Goldstein, D.B., Lifton, R.P., Katsanis, N., Davis, E.E., Gharavi, A.G. (2017) Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. American journal of human genetics. 101:789-802
Hutson, M.R., Keyte, A.L., Hernández-Morales, M., Gibbs, E., Kupchinsky, Z.A., Argyridis, I., Erwin, K.N., Pegram, K., Kneifel, M., Rosenberg, P.B., Matak, P., Xie, L., Grandl, J., Davis, E.E., Katsanis, N., Liu, C., Benner, E.J. (2017) Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects. Science signaling. 10(500)
Stankiewicz, P., Khan, T.N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., Bernstein, J.A., Brown, C.W., Rosenfeld, J.A., Rednam, S., Scollon, S., Bergstrom, K.L., Parsons, D.W., Plon, S.E., Vieira, M.W., Quaio, C.R.D.C., Baratela, W.A.R., Acosta Guio, J.C., Armstrong, R., Mehta, S.G., Rump, P., Pfundt, R., Lewandowski, R., Fernandes, E.M., Shinde, D.N., Tang, S., Hoyer, J., Zweier, C., Reis, A., Bacino, C.A., Xiao, R., Breman, A.M., Smith, J.L., Deciphering Developmental Disorders Study, Katsanis, N., Bostwick, B., Popp, B., Davis, E.E., Yang, Y. (2017) Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American journal of human genetics. 101(4):503-515
Kim, O.H., Cho, H.J., Han, E., Hong, T.I., Ariyasiri, K., Choi, J.H., Hwang, K.S., Jeong, Y.M., Yang, S.Y., Yu, K., Park, D.S., Oh, H.W., Davis, E.E., Schwartz, C.E., Lee, J.S., Kim, H.G., Kim, C.H. (2017) Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.. Molecular autism. 8:50
Helm, B.M., Willer, J.R., Sadeghpour, A., Golzio, C., Crouch, E., Vergano, S.S., Katsanis, N., Davis, E.E. (2017) Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Human genomics. 11:16
Frosk, P., Arts, H.H., Philippe, J., Gunn, C.S., Brown, E.L., Chodirker, B., Simard, L., Majewski, J., Fahiminiya, S., Russell, C., Liu, Y.P., Hegele, R., Katsanis, N., Goerz, C., Del Bigio, M.R., Davis, E.E. (2017) A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. Journal of Medical Genetics. 54(7):490-501
Ta-Shma, A., Khan, T.N., Vivante, A., Willer, J.R., Matak, P., Jalas, C., Pode-Shakked, B., Salem, Y., Anikster, Y., Hildebrandt, F., Katsanis, N., Elpeleg, O., Davis, E.E. (2017) Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. American journal of human genetics. 100(4):666-675
Shaw, N.D., Brand, H., Kupchinsky, Z.A., Bengani, H., Plummer, L., Jones, T.I., Erdin, S., Williamson, K.A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B.B., Dunican, D.S., Collins, R.L., Willer, J.R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T., Lucente, D., Silva, A., Seabra, C.M., Chiang, C., An, Y., Ansari, M., Rainger, J.K., Joss, S., Smith, J.C., Lippincott, M.F., Singh, S.S., Patel, N., Jing, J.W., Law, J.R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L.A., Brasseur, B., Cesaretti, C., García-Ortiz, J.E., Buitrago, T.P., Silva, O.P., Hoffman, J.D., Mühlbauer, W., Ruprecht, K.W., Loeys, B.L., Shino, M., Kaindl, A.M., Cho, C.H., Morton, C.C., Meehan, R.R., van Heyningen, V., Liao, E.C., Balasubramanian, R., Hall, J.E., Seminara, S.B., Macarthur, D., Moore, S.A., Yoshiura, K.I., Gusella, J.F., Marsh, J.A., Graham, J.M., Lin, A.E., Katsanis, N., Jones, P.L., Crowley, W.F., Davis, E.E., FitzPatrick, D.R., Talkowski, M.E. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. 49(2):238-248
Lindstrand, A., Frangakis, S., Carvalho, C.M., Richardson, E.B., McFadden, K.A., Willer, J.R., Pehlivan, D., Liu, P., Pediaditakis, I.L., Sabo, A., Lewis, R.A., Banin, E., Lupski, J.R., Davis, E.E., Katsanis, N. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics. 99:318-336
Chassaing, N., Davis, E.E., McKnight, K.L., Niederriter, A.R., Causse, A., David, V., Desmaison, A., Lamarre, S., Vincent-Delorme, C., Pasquier, L., Coubes, C., Lacombe, D., Rossi, M., Dufier, J.L., Dollfus, H., Kaplan, J., Katsanis, N., Etchevers, H.C., Faguer, S., Calvas, P. (2016) Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome research. 26(4):474-85
Ozantürk, A., Davis, E.E., Sabo, A., Weiss, M.M., Muzny, D., Dugan-Perez, S., Sistermans, E.A., Gibbs, R.A., Özgül, K.R., Yalnızoglu, D., Serdaroglu, E., Dursun, A., Katsanis, N. (2016) A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harbor molecular case studies. 2:a000703
O'Rawe, J.A., Wu, Y., Dörfel, M.J., Rope, A.F., Au, P.Y., Parboosingh, J.S., Moon, S., Kousi, M., Kosma, K., Smith, C.S., Tzetis, M., Schuette, J.L., Hufnagel, R.B., Prada, C.E., Martinez, F., Orellana, C., Crain, J., Caro-Llopis, A., Oltra, S., Monfort, S., Jiménez-Barrón, L.T., Swensen, J., Ellingwood, S., Smith, R., Fang, H., Ospina, S., Stegmann, S., Den Hollander, N., Mittelman, D., Highnam, G., Robison, R., Yang, E., Faivre, L., Roubertie, A., Rivière, J.B., Monaghan, K.G., Wang, K., Davis, E.E., Katsanis, N., Kalscheuer, V.M., Wang, E.H., Metcalfe, K., Kleefstra, T., Innes, A.M., Kitsiou-Tzeli, S., Rosello, M., Keegan, C.E., Lyon, G.J. (2015) TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. American journal of human genetics. 97:922-32
Isrie, M., Breuss, M., Tian, G., Hansen, A.H., Cristofoli, F., Morandell, J., Kupchinsky, Z.A., Sifrim, A., Rodriguez-Rodriguez, C.M., Dapena, E.P., Doonanco, K., Leonard, N., Tinsa, F., Moortgat, S., Ulucan, H., Koparir, E., Karaca, E., Katsanis, N., Marton, V., Vermeesch, J.R., Davis, E.E., Cowan, N.J., Keays, D.A., Van Esch, H. (2015) Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. American journal of human genetics. 97:790-800
Bainbridge, M.N., Davis, E.E., Choi, W.Y., Dickson, A., Martinez, H.R., Wang, M., Dinh, H., Muzny, D., Pignatelli, R., Katsanis, N., Boerwinkle, E., Gibbs, R., Jefferies, J.L. (2015) Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction. Circulation. Cardiovascular genetics. 8(4):544-52
Anderson, B.R., Howell, D.N., Soldano, K., Garrett, M.E., Katsanis, N., Telen, M.J., Davis, E.E., Ashley-Koch, A.E. (2015) In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress. PLoS Genetics. 11:e1005349
Waters, A.M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., Chapgier, A., Vernay, B., Bader, D.M., Deshpande, C., O' Sullivan, M., Ocaka, L., Stanescu, H., Stewart, H.S., Hildebrandt, F., Otto, E., Johnson, C.A., Szymanska, K., Katsanis, N., Davis, E., Kleta, R., Hubank, M., Doxsey, S., Jackson, A., Stupka, E., Winey, M., Beales, P.L. (2015) The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of Medical Genetics. 52:147-56
Brooks, S.S., Wall, A.L., Golzio, C., Reid, D.W., Kondyles, A., Willer, J.R., Botti, C., Nicchitta, C.V., Katsanis, N., Davis, E.E. (2014) A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans. Genetics. 198:723-33
Davis, E.E., Frangakis, S., Katsanis, N. (2014) Interpreting human genetic variation with in vivo zebrafish assays. Biochimica et biophysica acta. Molecular basis of disease. 1842(10):1960-1970
Lindstrand, A., Davis, E.E., Carvalho, C.M., Pehlivan, D., Willer, J.R., Tsai, I.C., Ramanathan, S., Zuppan, C., Sabo, A., Muzny, D., Gibbs, R., Liu, P., Lewis, R.A., Banin, E., Lupski, J.R., Clark, R., Katsanis, N. (2014) Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome. American journal of human genetics. 94:745-54
Halbritter, J., Bizet, A.A., Schmidts, M., Porath, J.D., Braun, D.A., Gee, H.Y., McInerney-Leo, A.M., Krug, P., Filhol, E., Davis, E.E., Airik, R., Czarnecki, P.G., Lehman, A.M., Trnka, P., Nitschké, P., Bole-Feysot, C., Schueler, M., Knebelmann, B., Burtey, S., Szabó, A.J., Tory, K., Leo, P.J., Gardiner, B., McKenzie, F.A., Zankl, A., Brown, M.A., Hartley, J.L., Maher, E.R., Li, C., Leroux, M.R., Scambler, P.J., Zhan, S.H., Jones, S.J., Kayserili, H., Tuysuz, B., Moorani, K.N., Constantinescu, A., Krantz, I.D., Kaplan, B.S., Shah, J.V., Hurd, T.W., Doherty, D., Katsanis, N., Duncan, E.L., Otto, E.A., Beales, P.L., Mitchison, H.M., Saunier, S., and Hildebrandt, F. (2013) Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American journal of human genetics. 93(5):915-925
Niederriter, A.R., Davis, E.E., Golzio, C., Oh, E.C., Tsai, I.C., and Katsanis, N. (2013) In Vivo Modeling of the Morbid Human Genome using Danio rerio. Journal of visualized experiments : JoVE. (78):e50338
Hjeij, R., Lindstrand, A., Francis, R., Zariwala, M.A., Liu, X., Li, Y., Damerla, R., Dougherty, G.W., Abouhamed, M., Olbrich, H., Loges, N.T., Pennekamp, P., Davis, E.E., Carvalho, C.M., Pehlivan, D., Werner, C., Raidt, J., Köhler, G., Häffner, K., Reyes-Mugica, M., Lupski, J.R., Leigh, M.W., Rosenfeld, M., Morgan, L.C., Knowles, M.R., Lo, C.W., Katsanis, N., and Omran, H. (2013) ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry. American journal of human genetics. 93(2):357-67
Basten, S.G., Davis, E.E., Gillis, A.J., van Rooijen, E., Stoop, H., Babala, N., Logister, I., Heath, Z.G., Jonges, T.N., Katsanis, N., Voest, E.E., van Eeden, F.J., Medema, R.H., Ketting, R.F., Schulte-Merker, S., Looijenga, L.H., and Giles, R.H. (2013) Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas. PLoS Genetics. 9(4):e1003384
McIntyre, J.C., Davis, E.E., Joiner, A., Williams, C.L., Tsai, I.C., Jenkins, P.M., McEwen, D.P., Zhang, L., Escobado, J., Thomas, S., Szymanska, K., Johnson, C.A., Beales, P.L., Green, E.D., Mullikin, J.C., Program, N.C., Sabo, A., Muzny, D.M., Gibbs, R.A., Attié-Bitach, T., Yoder, B.K., Reed, R.R., Katsanis, N., and Martens, J.R. (2012) Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature medicine. 18(9):1423-1428
Chassaing, N., Sorrentino, S., Davis, E.E., Martin-Coignard, D., Iacovelli, A., Paznekas, W., Webb, B.D., Faye-Petersen, O., Encha-Razavi, F., Lequeux, L., Vigouroux, A., Yesilyurt, A., Boyadjiev, S.A., Kayserili, H., Loget, P., Carles, D., Sergi, C., Puvabanditsin, S., Chen, C.P., Etchevers, H.C., Katsanis, N., Mercer, C.L., Calvas, P., and Jabs, E.W. (2012) OTX2 mutations contribute to the otocephaly-dysgnathia complex. Journal of Medical Genetics. 49(6):373-379
Huang, L., Szymanska, K., Jensen, V.L., Janecke, A.R., Innes, A.M., Davis, E.E., Frosk, P., Li, C., Willer, J.R., Chodirker, B.N., Greenberg, C.R., McLeod, D.R., Bernier, F.P., Chudley, A.E., Müller, T., Shboul, M., Logan, C.V., Loucks, C.M., Beaulieu, C.L., Bowie, R.V., Bell, S.M., Adkins, J., Zuniga, F.I., Ross, K.D., Wang, J., Ban, M.R., Becker, C., Nürnberg, P., Douglas, S., Craft, C.M., Akimenko, M.A., Hegele, R.A., Ober, C., Utermann, G., Bolz, H.J., Bulman, D.E., Katsanis, N., Blacque, O.E., Doherty, D., Parboosingh, J.S., Leroux, M.R., Johnson, C.A., and Boycott, K.M. (2011) 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. 89(6):713-730
Putoux, A., Thomas, S., Coene, K.L.M., Davis, E.E., Alanay, Y., Ogur, G., Uz, E., Buzas, D., Gomes, C., Patrier, S., Bennett, C.L., Elkhartoufi, N., Saint Frison, M.H., Rigonnot, L., Joye, N., Pruvost, S., Utine, G.E., Boduroglu, K., Nitschke, P., Fertitta, L., Thauvin-Robinet, C., Munnich, A., Cormier-Daire, V., Hennekam, R., Colin, E., Akarsu, N.A., Bole-Feysot, C., Cagnard, N., Schmitt, A., Goudin, N., Lyonnet, S., Encha-Razavi, F., Siffroi, J.P., Winey, M., Katsanis, N., Gonzales, M., Vekemans, M., Beales, P.L., and Attie-Bitach, T. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature Genetics. 43:601-606
Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., Muzny, D.M., Young, A.C., Wheeler, D.A., Cruz, P., Morgan, M., Lewis, L.R., Cherukuri, P., Maskeri, B., Hansen, N.F., Mullikin, J.C., Blakesley, R.W., Bouffard, G.G., NISC Comparative Sequencing Program, Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N.A., Neuhaus, T.J., Swoboda, K.J., Kayserili, H., Gallagher, T.E., Lewis, R.A., Bergmann, C., Otto, E.A., Saunier, S., Scambler, P.J., Beales, P.L., Gleeson, J.G., Maher, E.R., Attié-Bitach, T., Dollfus, H., Johnson, C.A., Green, E.D., Gibbs, R.A., Hildebrandt, F., Pierce, E.A., Katsanis, N. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43(3):189-196
Merveille, A.C., Davis, E.E., Becker-Heck, A., Legendre, M., Amirav, I., Bataille, G., Belmont, J., Beydon, N., Billen, F., Clément, A., Clercx, C., Coste, A., Crosbie, R., de Blic, J., Deleuze, S., Duquesnoy, P., Escalier, D., Escudier, E., Fliegauf, M., Horvath, J., Hill, K., Jorissen, M., Just, J., Kispert, A., Lathrop, M., Loges, N.T., Marthin, J.K., Momozawa, Y., Montantin, G., Nielsen, K.G., Olbrich, H., Papon, J.F., Rayet, I., Roger, G., Schmidts, M., Tenreiro, H., Towbin, J.A., Zelenika, D., Zentgraf, H., Georges, M., Lequarré, A.S., Katsanis, N., Omran, H., and Amselem, S. (2011) 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. 43(1):72-78
Valente, E.M., Logan, C.V., Mougou-Zerelli, S., Lee, J.H., Silhavy, J.L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., Adams, M., Szymanska, K., Mazzotta, A., Lee, J.E., Tolentino, J.C., Swistun, D., Salpietro, C.D., Fede, C., Gabriel, S., Russ, C., Cibulskis, K., Sougnez, C., Hildebrandt, F., Otto, E.A., Held, S., Diplas, B.H., Davis, E.E., Mikula, M., Strom, C.M., Ben-Zeev, B., Lev, D., Sagie, T.L., Michelson, M., Yaron, Y., Krause, A., Boltshauser, E., Elkhartoufi, N., Roume, J., Shalev, S., Munnich, A., Saunier, S., Inglehearn, C., Saad, A., Alkindy, A., Thomas, S., Vekemans, M., Dallapiccola, B., Katsanis, N., Johnson, C.A., Attié-Bitach, T., and Gleeson, J.G. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42(7):619-625
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