ZFIN Person: Katsanis, Nicholas (2024)

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

Latypova, X., Vincent, M., Mollé, A., Adebambo, O.A., Fourgeux, C., Khan, T.N., Caro, A., Rosello, M., Orellana, C., Niyazov, D., Lederer, D., Deprez, M., Capri, Y., Kannu, P., Tabet, A.C., Levy, J., Aten, E., den Hollander, N., Splitt, M., Walia, J., Immken, L.L., Stankiewicz, P., McWalter, K., Suchy, S., Louie, R.J., Bell, S., Stevenson, R.E., Rousseau, J., Willem, C., Retiere, C., Yang, X.J., Campeau, P.M., Martinez, F., Rosenfeld, J.A., Le Caignec, C., Küry, S., Mercier, S., Moradkhani, K., Conrad, S., Besnard, T., Cogné, B., Katsanis, N., Bézieau, S., Poschmann, J., Davis, E.E., Isidor, B. (2021) Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. American journal of human genetics. 108(5):929-941

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

Monroe, T.O., Garrett, M.E., Kousi, M., Rodriguiz, R.M., Moon, S., Bai, Y., Brodar, S.C., Soldano, K.L., Savage, J., Hansen, T.F., Muzny, D.M., Gibbs, R.A., Barak, L., Sullivan, P.F., Ashley-Koch, A.E., Sawa, A., Wetsel, W.C., Werge, T., Katsanis, N. (2020) PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nature communications. 11:5903

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

Harel, T., Griffin, J.N., Arbogast, T., Monroe, T.O., Palombo, F., Martinelli, M., Seri, M., Pippucci, T., Elpeleg, O., Katsanis, N. (2020) Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Human molecular genetics. 29(9):1489-1497

Tsai, I.C., Adams, K.A., Tzeng, J.A., Shennib, O., Tan, P.L., Katsanis, N. (2019) Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. JCI insight. 4(22):

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

Zhang, P., Chen, C., Guo, F., Philippe, J., Gu, Y., Tian, Z., Bachman, H., Ren, L., Yang, S., Zhong, Z., Huang, P.H., Katsanis, N., Chakrabarty, K., Huang, T.J. (2019) Contactless, programmable acoustofluidic manipulation of objects on water. Lab on a Chip. 19(20):3397-3404

Lee, M.S., Philippe, J., Katsanis, N., Zhou, W. (2019) Polyketide Synthase Plays a Conserved Role in Otolith Formation. Zebrafish. 16(4):363-369

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

Spataro, R., Kousi, M., Farhan, S.M.K., Willer, J.R., Ross, J.P., Dion, P.A., Rouleau, G.A., Daly, M.J., Neale, B.M., La Bella, V., Katsanis, N. (2019) Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. Human genomics. 13:19

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

Marconi, C., Di Buduo, C.A., LeVine, K., Barozzi, S., Faleschini, M., Bozzi, V., Palombo, F., McKinstry, S., Lassandro, G., Giordano, P., Noris, P., Balduini, C.L., Savoia, A., Balduini, A., Pippucci, T., Seri, M., Katsanis, N., Pecci, A. (2018) A new form of inherited thrombocytopenia caused by loss-of-function mutations in PTPRJ. Blood. 133(12):1346-1357

Arbogast, T., Razaz, P., Ellegood, J., McKinstry, S., Erdin, S., Currall, B., Aneichyk, T., Lerch, J.P., Qiu, L.R., Rodriguiz, R.M., Mark Henkelman, R., Talkowski, M.E., Wetsel, W.C., Golzio, C., Katsanis, N. (2018) Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. Human molecular genetics. 28(9):1474-1486

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

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Vahidi Mehrjardi, M.Y., Traversa, A., Di Nottia, M., Kousi, M.M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R.A., Pantaleoni, F., Martinelli, S., Jeffries, A.R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G.R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S., Tartaglia, M. (2018) Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.. Neurology. 91(4):e319-e330

Edie, S., Zaghloul, N.A., Leitch, C.C., Klinedinst, D.K., Lebron, J., Thole, J.F., McCallion, A.S., Katsanis, N., Reeves, R.H. (2018) Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio.. G3 (Bethesda). 8(7):2215-2223

Frints, S.G.M., Ozanturk, A., Rodríguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., E Hickey, S., Kammoun, M., Gripp, K.W., Bauer, C., Schroeder, C., Toutain, A., Mihalic Mosher, T., Kelly, B.J., White, P., Dufke, A., Rentmeester, E., Moon, S., Koboldt, D.C., van Roozendaal, K.E.P., Hu, H., Haas, S.A., Ropers, H.H., Murray, L., Haan, E., Shaw, M., Carroll, R., Friend, K., Liebelt, J., Hobson, L., De Rademaeker, M., Geraedts, J., Fryns, J.P., Vermeesch, J., Raynaud, M., Riess, O., Gribnau, J., Katsanis, N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C., Kalscheuer, V.M. (2018) Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular psychiatry. 24(11):1748-1768

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

Gusev, A., Mancuso, N., Won, H., Kousi, M., Finucane, H.K., Reshef, Y., Song, L., Safi, A., Schizophrenia Working Group of the Psychiatric Genomics Consortium, McCarroll, S., Neale, B.M., Ophoff, R.A., O'Donovan, M.C., Crawford, G.E., Geschwind, D.H., Katsanis, N., Sullivan, P.F., Pasaniuc, B., Price, A.L. (2018) Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Nature Genetics. 50:538-548

Esteve, C., Francescatto, L., Tan, P.L., Bourchany, A., De Leusse, C., Marinier, E., Blanchard, A., Bourgeois, P., Brochier-Armanet, C., Bruel, A.L., Delarue, A., Duffourd, Y., Ecochard-Dugelay, E., Hery, G., Huet, F., Gauchez, P., Gonzales, E., Guettier-Bouttier, C., Komuta, M., Lacoste, C., Maudinas, R., Mazodier, K., Rimet, Y., Rivière, J.B., Roquelaure, B., Sigaudy, S., Stephenne, X., Thauvin-Robinet, C., Thevenon, J., Sarles, J., Levy, N., Badens, C., Goulet, O., Hugot, J.P., Katsanis, N., Faivre, L., Fabre, A. (2018) Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. American journal of human genetics. 102:364-374

Kellaris, G., Khan, K., Baig, S.M., Tsai, I.C., Zamora, F.M., Ruggieri, P., Natowicz, M.R., Katsanis, N. (2018) A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. Human genomics. 12:11

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

Reijnders, M.R.F., Kousi, M., van Woerden, G.M., Klein, M., Bralten, J., Mancini, G.M.S., van Essen, T., Proietti-Onori, M., Smeets, E.E.J., van Gastel, M., Stegmann, A.P.A., Stevens, S.J.C., Lelieveld, S.H., Gilissen, C., Pfundt, R., Tan, P.L., Kleefstra, T., Franke, B., Elgersma, Y., Katsanis, N., Brunner, H.G. (2017) Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability. Nature communications. 8:1052

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

Loviglio, M.N., Arbogast, T., Jønch, A.E., Collins, S.C., Popadin, K., Bonnet, C.S., Giannuzzi, G., Maillard, A.M., Jacquemont, S., 16p11.2 Consortium, Yalcin, B., Katsanis, N., Golzio, C., Reymond, A. (2017) The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. American journal of human genetics. 101(4):564-577

Reijnders, M.R.F., Ansor, N.M., Kousi, M., Yue, W.W., Tan, P.L., Clarkson, K., Clayton-Smith, J., Corning, K., Jones, J.R., Lam, W.W.K., Mancini, G.M.S., Marcelis, C., Mohammed, S., Pfundt, R., Roifman, M., Cohn, R., Chitayat, D., Millard, T.H., Katsanis, N., Brunner, H.G., Banka, S. (2017) RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. American journal of human genetics. 101:466-477

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

Anttonen, A.K., Laari, A., Kousi, M., Yang, Y.J., Jääskeläinen, T., Somer, M., Siintola, E., Jakkula, E., Muona, M., Tegelberg, S., Lönnqvist, T., Pihko, H., Valanne, L., Paetau, A., Lun, M.P., Hästbacka, J., Kopra, O., Joensuu, T., Katsanis, N., Lehtinen, M.K., Palvimo, J.J., Lehesjoki, A.E. (2017) ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain : a journal of neurology. 140(5):1267-1279

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

Liu, Y.P., Bosch, D.G., Siemiatkowska, A.M., Rendtorff, N.D., Boonstra, F.N., Möller, C., Tranebjærg, L., Katsanis, N., Cremers, F.P. (2017) Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. Ophthalmic genetics. 38(2):127-132

Lopez-Rivera, E., Liu, Y.P., Verbitsky, M., Anderson, B.R., Capone, V.P., Otto, E.A., Yan, Z., Mitrotti, A., Martino, J., Steers, N.J., Fasel, D.A., Vukojevic, K., Deng, R., Racedo, S.E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G.S., Bodria, M., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Maiorana, M., Petrey, D.S., Honig, B., Lozanovski, V.J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., van Wijk, J.A., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D.M., Crowley, T.B., Zackai, E.H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J.M., Puri, P., Barton, D., Casolari, E., Furth, S.L., Warady, B.A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C.S., Drummond, I.A., D'Agati, V., Imamoto, A., Barasch, J.M., Hildebrandt, F., Kiryluk, K., Lifton, R.P., Morrow, B.E., Jeanpierre, C., Papaioannou, V.E., Ghiggeri, G.M., Gharavi, A.G., Katsanis, N., Sanna-Cherchi, S. (2017) Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. The New England Journal of Medicine. 376(8):742-754

Küry, S., Besnard, T., Ebstein, F., Khan, T.N., Gambin, T., Douglas, J., Bacino, C.A., Sanders, S.J., Lehmann, A., Latypova, X., Khan, K., Pacault, M., Sacharow, S., Glaser, K., Bieth, E., Perrin-Sabourin, L., Jacquemont, M.L., Cho, M.T., Roeder, E., Denommé-Pichon, A.S., Monaghan, K.G., Yuan, B., Xia, F., Simon, S., Bonneau, D., Parent, P., Gilbert-Dussardier, B., Odent, S., Toutain, A., Pasquier, L., Barbouth, D., Shaw, C.A., Patel, A., Smith, J.L., Bi, W., Schmitt, S., Deb, W., Nizon, M., Mercier, S., Vincent, M., Rooryck, C., Malan, V., Briceño, I., Gómez, A., Nugent, K.M., Gibson, J.B., Cogné, B., Lupski, J.R., Stessman, H.A., Eichler, E.E., Retterer, K., Yang, Y., Redon, R., Katsanis, N., Rosenfeld, J.A., Kloetzel, P.M., Golzio, C., Bézieau, S., Stankiewicz, P., Isidor, B. (2017) De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American journal of human genetics. 100(2):352-363

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Ryan, S., Willer, J., Marjoram, L., Bagwell, J., Mankiewicz, J., Leshchiner, I., Goessling, W., Bagnat, M., and Katsanis, N. (2013) Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. Development (Cambridge, England). 140(21):4445-4451

Nishiguchi, K.M., Tearle, R.G., Liu, Y.P., Oh, E.C., Miyake, N., Benaglio, P., Harper, S., Koskiniemi-Kuendig, H., Venturini, G., Sharon, D., Koenekoop, R.K., Nakamura, M., Kondo, M., Ueno, S., Yasuma, T.R., Beckmann, J.S., Ikegawa, S., Matsumoto, N., Terasaki, H., Berson, E.L., Katsanis, N., and Rivolta, C. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences of the United States of America. 110(40):16139-16144

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

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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

Chaki, M., Airik, R., Ghosh, A.K., Giles, R.H., Chen, R., Slaats, G.G., Wang, H., Hurd, T.W., Zhou, W., Cluckey, A., Gee, H.Y., Ramaswami, G., Hong, C.J., Hamilton, B.A., Cervenka, I., Ganji, R.S., Bryja, V., Arts, H.H., van Reeuwijk, J., Oud, M.M., Letteboer, S.J., Roepman, R., Husson, H., Ibraghimov-Beskrovnaya, O., Yasunaga, T., Walz, G., Eley, L., Sayer, J.A., Schermer, B., Liebau, M.C., Benzing, T., Le Corre, S., Drummond, I., Janssen, S., Allen, S.J., Natarajan, S., O'Toole, J.F., Attanasio, M., Saunier, S., Antignac, C., Koenekoop, R.K., Ren, H., Lopez, I., Nayir, A., Stoetzel, C., Dollfus, H., Massoudi, R., Gleeson, J.G., Andreoli, S.P., Doherty, D.G., Lindstrad, A., Golzio, C., Katsanis, N., Pape, L., Abboud, E.B., Al-Rajhi, A.A., Lewis, R.A., Omran, H., Lee, E.Y., Wang, S., Sekiguchi, J.M., Saunders, R., Johnson, C.A., Garner, E., Vanselow, K., Andersen, J.S., Shlomai, J., Nurnberg, G., Nurnberg, P., Levy, S., Smogorzewska, A., Otto, E.A., and Hildebrandt, F. (2012) Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling. Cell. 150(3):533-548

Lee, N.Y., Golzio, C., Gatza, C.E., Sharma, A., Katsanis, N., and Blobe, G.C. (2012) Endoglin Regulates PI3-Kinase/Akt Trafficking and Signaling to Alter Endothelial Capillary Stability During Angiogenesis. Molecular biology of the cell. 23(13):2412-2423

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

Golzio, C., Willer, J., Talkowski, M.E., Oh, E.C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J.F., Kamiya, A., Beckmann, J.S., and Katsanis, N. (2012) KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 485(7398):363-367

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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

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Kim, S., Zaghloul, N.A., Bubenshchikova, E., Oh, E.C., Rankin, S., Katsanis, N., Obara, T., and Tsiokas, L. (2011) Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry. Nature cell biology. 13(4):351-60

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

Zaghloul, N.A., and Katsanis, N. (2011) Zebrafish assays of ciliopathies. Methods in cell biology. 105:257-272

Otto, E.A., Hurd, T.W., Airik, R., Chaki, M., Zhou, W., Stoetzel, C., Patil, S.B., Levy, S., Ghosh, A.K., Murga-Zamalloa, C.A., van Reeuwijk, J., Letteboer, S.J., Sang, L., Giles, R.H., Liu, Q., Coene, K.L., Estrada-Cuzcano, A., Collin, R.W., McLaughlin, H.M., Held, S., Kasanuki, J.M., Ramaswami, G., Conte, J., Lopez, I., Washburn, J., Macdonald, J., Hu, J., Yamash*ta, Y., Maher, E.R., Guay-Woodford, L.M., Neumann, H.P., Obermüller, N., Koenekoop, R.K., Bergmann, C., Bei, X., Lewis, R.A., Katsanis, N., Lopes, V., Williams, D.S., Lyons, R.H., Dang, C.V., Brito, D.A., Dias, M.B., Zhang, X., Cavalcoli, J.D., Nürnberg, G., Nürnberg, P., Pierce, E.A., Jackson, P.K., Antignac, C., Saunier, S., Roepman, R., Dollfus, H., Khanna, H., and Hildebrandt, F. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genetics. 42(10):840-850

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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