ZFIN ID: ZDB-PERS-170816-4
Katsanis, Nicholas
Email: nkatsanis@luriechildrens.org
URL:
Affiliation: Center for Human Disease Modeling
Address: Duke University Medical Center 300 N. Duke Street, Room 47-104 Durham, NC 27701
Country: United States
Phone:
Fax:
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
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
Tan, P.L., Garrett, M.E., Willer, J.R., Campochiaro, P.A., Campochiaro, B., Zack, D.J., Ashley-Koch, A.E., Katsanis, N. (2017) Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration. Investigative ophthalmology & visual science. 58:1570-1576
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
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
Fromer, M., Roussos, P., Sieberts, S.K., Johnson, J.S., Kavanagh, D.H., Perumal, T.M., Ruderfer, D.M., Oh, E.C., Topol, A., Shah, H.R., Klei, L.L., Kramer, R., Pinto, D., Gümüş, Z.H., Cicek, A.E., Dang, K.K., Browne, A., Lu, C., Xie, L., Readhead, B., Stahl, E.A., Xiao, J., Parvizi, M., Hamamsy, T., Fullard, J.F., Wang, Y.C., Mahajan, M.C., Derry, J.M., Dudley, J.T., Hemby, S.E., Logsdon, B.A., Talbot, K., Raj, T., Bennett, D.A., De Jager, P.L., Zhu, J., Zhang, B., Sullivan, P.F., Chess, A., Purcell, S.M., Shinobu, L.A., Mangravite, L.M., Toyoshiba, H., Gur, R.E., Hahn, C.G., Lewis, D.A., Haroutunian, V., Peters, M.A., Lipska, B.K., Buxbaum, J.D., Schadt, E.E., Hirai, K., Roeder, K., Brennand, K.J., Katsanis, N., Domenici, E., Devlin, B., Sklar, P. (2016) Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nature Neuroscience. 19(11):1442-1453
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
Bolar, N.A., Golzio, C., Živná, M., Hayot, G., Van Hemelrijk, C., Schepers, D., Vandeweyer, G., Hoischen, A., Huyghe, J.R., Raes, A., Matthys, E., Sys, E., Azou, M., Gubler, M.C., Praet, M., Van Camp, G., McFadden, K., Pediaditakis, I., Přistoupilová, A., Hodaňová, K., Vyleťal, P., Hartmannová, H., Stránecký, V., Hůlková, H., Barešová, V., Jedličková, I., Sovová, J., Hnízda, A., Kidd, K., Bleyer, A.J., Spong, R.S., Vande Walle, J., Mortier, G., Brunner, H., Van Laer, L., Kmoch, S., Katsanis, N., Loeys, B.L. (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. American journal of human genetics. 99:174-187
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
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