ZFIN Person: Davis, Erica

ZFIN ID: ZDB-PERS-170816-3

Davis, Erica

Email:	eridavis@luriechildrens.org
URL:	http://luriechildrens.org/act-gem
Affiliation:	Erica Davis Lab
Address:	Physical/Courier Address: Simpson Querrey Biomedical Research Center 302 E Huron Street, Lab 3-300 Chicago, IL 60611 Mailing Address: 225 E Chicago Avenue, Box 205 Chicago, IL 60611
Country:	United States
Phone:	312-503-7662
Fax:	312-503-7343
ORCID ID:	0000-0002-2412-8397

BIOGRAPHY AND RESEARCH INTERESTS

PUBLICATIONS

Lippincott, M.F., Xu, W., Smith, A.A., Miao, X., Lafont, A., Shennib, O., Farley, G.J., Sabbagh, R., Delaney, A., Stamou, M., Plummer, L., Salnikov, K., Georgopoulos, N.A., Mericq, V., Quinton, R., Mau-Them, F.T., Nambot, S., Hamad, A., Brittain, H., Tooze, R.S., Calpena, E., Wilkie, A.O.M., Willems, M., Crowley, W.F., Balasubramanian, R., Lamarche-Vane, N., Davis, E.E., Seminara, S.B. (2022) The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay. Genetics in medicine : official journal of the American College of Medical Genetics. 24(12):2501-2515

Ullah, F., Rauf, W., Khan, K., Khan, S., Bell, K.M., de Oliveira, V.C., Tariq, M., Bakhshalizadeh, S., Touraine, P., Katsanis, N., Sinclair, A., He, S., Tucker, E.J., Baig, S.M., Davis, E.E. (2021) A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss. Human genetics. 140(12):1733-1751

Chen, C., Gu, Y., Philippe, J., Zhang, P., Bachman, H., Zhang, J., Mai, J., Rufo, J., Rawls, J.F., Davis, E.E., Katsanis, N., Huang, T.J. (2021) Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae. Nature communications. 12:1118

Epting, D., Senaratne, L.D.S., Ott, E., Holmgren, A., Sumathipala, D., Larsen, S.M., Wallmeier, J., Bracht, D., Frikstad, K.M., Crowley, S., Sikiric, A., Barøy, T., Käsmann-Kellner, B., Decker, E., Decker, C., Bachmann, N., Patzke, S., Phelps, I.G., Katsanis, N., Giles, R., Schmidts, M., Zucknick, M., Lienkamp, S.S., Omran, H., Davis, E.E., Doherty, D., Strømme, P., Frengen, E., Bergmann, C., Misceo, D. (2020) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Human Mutation. 41(12):2179-2194

Lee, Y.R., Khan, K., Armfield-Uhas, K., Srikanth, S., Thompson, N.A., Pardo, M., Yu, L., Norris, J.W., Peng, Y., Gripp, K.W., Aleck, K.A., Li, C., Spence, E., Choi, T.I., Kwon, S.J., Park, H.M., Yu, D., Do Heo, W., Mooney, M.R., Baig, S.M., Wentzensen, I.M., Telegrafi, A., McWalter, K., Moreland, T., Roadhouse, C., Ramsey, K., Lyons, M.J., Skinner, C., Alexov, E., Katsanis, N., Stevenson, R.E., Choudhary, J.S., Adams, D.J., Kim, C.H., Davis, E.E., Schwartz, C.E. (2020) Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature communications. 11:3698

Davis, E.E., Balasubramanian, R., Kupchinsky, Z.A., Keefe, D.L., Plummer, L., Khan, K., Meczekalski, B., Heath, K.E., Lopez-Gonzalez, V., Ballesta-Martinez, M.J., Margabanthu, G., Price, S., Greening, J., Brauner, R., Valenzuela, I., Cusco, I., Fernandez-Alvarez, P., Wierman, M.E., Li, T., Lage, K., Barroso, P.S., Chan, Y.M., Crowley, W.F., Katsanis, N. (2020) TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. Human molecular genetics. 29(14):2435-2450

Cogné, B., Latypova, X., Senaratne, L.D.S., Martin, L., Koboldt, D.C., Kellaris, G., Fievet, L., Le Meur, G., Caldari, D., Debray, D., Nizon, M., Frengen, E., Bowne, S.J., 99 Lives Consortium, Cadena, E.L., Daiger, S.P., Bujakowska, K.M., Pierce, E.A., Gorin, M., Katsanis, N., Bézieau, S., Petersen-Jones, S.M., Occelli, L.M., Lyons, L.A., Legeai-Mallet, L., Sullivan, L.S., Davis, E.E., Isidor, B. (2020) Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. American journal of human genetics. 106(6):893-904

Mooney, M.R., Davis, E.E., Katsanis, N. (2019) Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation. Frontiers in genetics. 10:949

Qiu, Y., Arbogast, T., Lorenzo, S.M., Li, H., Tang, S.C., Richardson, E., Hong, O., Cho, S., Shanta, O., Pang, T., Corsello, C., Deutsch, C.K., Chevalier, C., Davis, E.E., Iakoucheva, L.M., Herault, Y., Katsanis, N., Messer, K., Sebat, J. (2019) Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Reports. 28:3320-3328.e4

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

Lee, J.H., Silhavy, J.L., Lee, J.E., Al-Gazali, L., Thomas, S., Davis, E.E., Bielas, S.L., Hill, K.J., Iannicelli, M., Brancati, F., Gabriel, S.B., Russ, C., Logan, C.V., Sharif, S.M., Bennett, C.P., Abe, M., Hildebrandt, F., Diplas, B.H., Attié-Bitach, T., Katsanis, N., Rajab, A., Koul, R., Sztriha, L., Waters, E.R., Ferro-Novick, S., Woods, C.G., Johnson, C.A., Valente, E.M., Zaki, M.S., Gleeson, J.G. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335:966-9

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

O'Toole, J.F., Liu, Y., Davis, E.E., Westlake, C.J., Attanasio, M., Otto, E.A., Seelow, D., Nurnberg, G., Becker, C., Nuutinen, M., Kärppä, M., Ignatius, J., Uusimaa, J., Pakanen, S., Jaakkola, E., van den Heuvel, L.P., Fehrenbach, H., Wiggins, R., Goyal, M., Zhou, W., Wolf, M.T., Wise, E., Helou, J., Allen, S.J., Murga-Zamalloa, C.A., Ashraf, S., Chaki, M., Heeringa, S., Chernin, G., Hoskins, B.E., Chaib, H., Gleeson, J., Kusakabe, T., Suzuki, T., Isaac, R.E., Quarmby, L.M., Tennant, B., Fujioka, H., Tuominen, H., Hassinen, I., Lohi, H., van Houten, J.L., Rotig, A., Sayer, J.A., Rolinski, B., Freisinger, P., Madhavan, S.M., Herzer, M., Madignier, F., Prokisch, H., Nurnberg, P., Jackson, P., Khanna, H., Katsanis, N., and Hildebrandt, F. (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest.. 120(3):791-802

Khanna, H., Davis, E.E., Murga-Zamalloa, C.A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A.I., Zonneveld, M.N., Othman, M.I., Waseem, N., Chakarova, C.F., Maubaret, C., Diaz-Font, A., Macdonald, I., Muzny, D.M., Wheeler, D.A., Morgan, M., Lewis, L.R., Logan, C.V., Tan, P.L., Beer, M.A., Inglehearn, C.F., Lewis, R.A., Jacobson, S.G., Bergmann, C., Beales, P.L., Attié-Bitach, T., Johnson, C.A., Otto, E.A., Bhattacharya, S.S., Hildebrandt, F., Gibbs, R.A., Koenekoop, R.K., Swaroop, A., and Katsanis, N. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature Genetics. 41(6):739-745

Gorden, N.T., Arts, H.H., Parisi, M.A., Coene, K.L., Letteboer, S.J., van Beersum, S.E., Mans, D.A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A.F., Ozyurek, H., Dibooglu, S., Otto, E.A., Liu, Y., Davis, E.E., Hutter, C.M., Bammler, T.K., Farin, F.M., Dorschner, M., Topçu, M., Zackai, E.H., Rosenthal, P., Owens, K.N., Katsanis, N., Vincent, J.B., Hildebrandt, F., Rubel, E.W., Raible, D.W., Knoers, N.V., Chance, P.F., Roepman, R., Moens, C.B., Glass, I.A., and Doherty, D. (2008) CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290. American journal of human genetics. 83(5):559-571

Leitch, C.C., Zaghloul, N.A., Davis, E.E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R.A., Eyaid, W., Banin, E., Dollfus, H., Beales, P.L., Badano, J.L., and Katsanis, N. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics. 40(4):443-448

Stoetzel, C., Muller, J., Laurier, V., Davis, E.E., Zaghloul, N.A., Vicaire, S., Jacquelin, C., Plewniak, F., Leitch, C.C., Sarda, P., Hamel, C., de Ravel, T.J., Lewis, R.A., Friederich, E., Thibault, C., Danse, J.M., Verloes, A., Bonneau, D., Katsanis, N., Poch, O., Mandel, J.L., and Dollfus, H. (2007) 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. 80(1):1-11

Stoetzel, C., Laurier, V., Davis, E.E., Muller, J., Rix, S., Badano, J.L., Leitch, C.C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A.S., Elcioglu, N.H., Da Silva, E., Rossillion, B., Sigaudy, S., de Ravel, T.J., Alan Lewis, R., Leheup, B., Verloes, A., Amati-Bonneau, P., Megarbane, A., Poch, O., Bonneau, D., Beales, P.L., Mandel, J.L., Katsanis, N., and Dollfus, H. (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature Genetics. 38(5):521-524

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