Elias Nicholas Katsanis

  • 23518 Citations
19952020

Research output per year

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Research Output

2017

Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects

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, E. N., Liu, C. & Benner, E. J., Oct 10 2017, In : Science Signaling. 10, 500, eaal4055.

Research output: Contribution to journalArticle

Open Access
20 Scopus citations

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

16p11.2 Consortium, Oct 5 2017, In : American journal of human genetics. 101, 4, p. 564-577 14 p.

Research output: Contribution to journalArticle

Open Access
11 Scopus citations

The Meckel syndrome-associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling

Goetz, S. C., Bangs, F., Barrington, C. L., Katsanis, E. N. & Anderson, K. V., Mar 2017, In : PloS one. 12, 3, e0173399.

Research output: Contribution to journalArticle

Open Access
11 Scopus citations

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

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, E. N. & 1 others, Brunner, H. G., Dec 1 2017, In : Nature communications. 8, 1, 1052.

Research output: Contribution to journalArticle

Open Access
15 Scopus citations

Zebrafish: A Model System to Study the Architecture of Human Genetic Disease

Davis, E. E. & Katsanis, E. N., Jun 28 2017, Animal Models for the Study of Human Disease: Second Edition. Elsevier Inc, p. 651-670 20 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

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, E. N., Lehtinen, M. K. & 2 others, Palvimo, J. J. & Lehesjoki, A. E., May 1 2017, In : Brain. 140, 5, p. 1267-1279 13 p.

Research output: Contribution to journalArticle

Open Access
11 Scopus citations
2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., ELee, K., Hunter, D. J., Sardell, R. J., Mitchell, P. & 142 others, Merriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., McAllister, I. L., Isaacs, T., Hall, J., Lake, S., Mackey, D. A., Constable, I. J., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., Von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Tsironi, E. E., Park, K. H., Farrer, L. A., Orlin, A., Brucker, A., Li, M., Curcio, C. A., Mohand-Sa'd, S., Sahel, J. A., Audo, I., Benchaboune, M., Cree, A. J., Rennie, C. A., Goverdhan, S. V., Grunin, M., Hagbi-Levi, S., Campochiaro, P., Katsanis, E. N., Holz, F. G., Blond, F., Blanché, H., Deleuze, J. F. O., Igo, R. P., Truitt, B., Peachey, N. S., Meuer, S. M., Myers, C. E., Moore, E. L., Klein, R., Hauser, M. A., Postel, E. A., Courtenay, M. D., Schwartz, S. G., Kovach, J. L., Scott, W. K., Liew, G., Tan, A. G., Gopinath, B., Merriam, J. C., Smith, R. T., Khan, J. C., Shahid, H., Moore, A. T., McGrath, J. A., Laux, R., Brantley, M. A., Agarwal, A., Ersoy, L., Caramoy, A., Langmann, T., Saksens, N. T. M., Jong, E. K., Hoyng, C. B., Cain, M. S., Richardson, A. J., Martin, T. M., Blangero, J., Weeks, D. E., Dhillon, B., Van Duijn, C. M., Doheny, K. F., Romm, J., Klaver, C. C. W., Hayward, C., Gorin, M. B., Klein, M. L., Baird, P. N., Den Hollander, A. I., Fauser, S., WYates, J. R., Allikmets, R., Wang, J. J., Schaumberg, D. A., Klein, B. E. K., Hagstrom, S. A., Chowers, I., Lotery, A. J., Léveillard, T., Zhang, K., Brilliant, M. H., Hewitt, A. W., Swaroop, A., Chew, E. Y., Pericak-Vance, M. A., DeAngelis, M., Stambolian, D., Haines, J. L., Iyengar, S. K., Weber, B. H. F., Abecasis, G. R. & Heid, I. M., Feb 1 2016, In : Nature Genetics. 48, 2, p. 134-143 10 p.

Research output: Contribution to journalArticle

403 Scopus citations

AMD and the alternative complement pathway: genetics and functional implications

Tan, P. L., Bowes Rickman, C. & Katsanis, E. N., Jun 21 2016, In : Human genomics. 10, 1, 1 p.

Research output: Contribution to journalReview article

Open Access
24 Scopus citations

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

UK10K Rare Diseases Group, May 13 2016, In : Nature communications. 7, 11491.

Research output: Contribution to journalArticle

Open Access
89 Scopus citations

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Lindstrand, A., Frangakis, S., Carvalho, C. M. B., 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, E. N., Aug 4 2016, In : American journal of human genetics. 99, 2, p. 318-336 19 p.

Research output: Contribution to journalArticle

Open Access
43 Scopus citations

DNAH11 localization in the proximal region of respiratory cilia defines distinct outer dynein arm complexes

Dougherty, G. W., Loges, N. T., Klinkenbusch, J. A., Olbrich, H., Pennekamp, P., Menchen, T., Raidt, J., Wallmeier, J., Werner, C., Westermann, C., Ruckert, C., Mirra, V., Hjeij, R., Memari, Y., Durbin, R., Kolb-Kokocinski, A., Praveen, K., Kashef, M. A., Kashef, S., Eghtedari, F. & 13 others, Häffner, K., Valmari, P., Baktai, G., Aviram, M., Bentur, L., Amirav, I., Davis, E. E., Katsanis, E. N., Brueckner, M., Shaposhnykov, A., Pigino, G., Dworniczak, B. & Omran, H., Aug 2016, In : American journal of respiratory cell and molecular biology. 55, 2, p. 213-224 12 p.

Research output: Contribution to journalArticle

42 Scopus citations

Gene expression elucidates functional impact of polygenic risk for schizophrenia

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. & 38 others, Stahl, E. A., Xiao, J., Parvizi, M., Hamamsy, T., Fullard, J. F., Wang, Y. C., Mahajan, M. C., Derry, J. M. J., 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, E. N., Domenici, E., Devlin, B. & Sklar, P., Oct 26 2016, In : Nature neuroscience. 19, 11, p. 1442-1453 12 p.

Research output: Contribution to journalReview article

309 Scopus citations

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

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. & 18 others, 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, E. N. & Loeys, B. L., Jul 7 2016, In : American journal of human genetics. 99, 1, p. 174-187 14 p.

Research output: Contribution to journalArticle

Open Access
51 Scopus citations

Mitochondrial copy number as a biomarker for autism?

Golzio, C. & Katsanis, E. N., Apr 1 2016, In : Pediatrics. 137, 4

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

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, E. N., Etchevers, H. C., Faguer, S. & Calvas, P., Apr 2016, In : Genome research. 26, 4, p. 474-485 12 p.

Research output: Contribution to journalArticle

Open Access
18 Scopus citations

The continuum of causality in human genetic disorders

Katsanis, E. N., Nov 17 2016, In : Genome biology. 17, 1, 233.

Research output: Contribution to journalArticle

Open Access
51 Scopus citations

The Genetic Basis of Hydrocephalus

Kousi, M. & Katsanis, E. N., Jul 8 2016, In : Annual Review of Neuroscience. 39, p. 409-435 27 p.

Research output: Contribution to journalArticle

33 Scopus citations

The potential of DISC1 protein as a therapeutic target for mental illness

Sawa, A., Ishizuka, K. & Katsanis, E. N., Jun 2 2016, In : Expert Opinion on Therapeutic Targets. 20, 6, p. 641-643 3 p.

Research output: Contribution to journalEditorial

5 Scopus citations
2015

A human laterality disorder caused by a homozygous deleterious mutation in MMP21

Perles, Z., Moon, S., Ta-Shma, A., Yaacov, B., Francescatto, L., Edvardson, S., Rein, A. J. J. T., Elpeleg, O. & Katsanis, E. N., Jan 1 2015, In : Journal of medical genetics. 52, 12, p. 840-847 8 p.

Research output: Contribution to journalArticle

Open Access
22 Scopus citations

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS

Hall, G., Gbadegesin, R. A., Lavin, P., Wu, G., Liu, Y., Oh, E. C., Wang, L., Spurney, R. F., Eckel, J., Lindsey, T., Homstad, A., Malone, A. F., Phelan, P. J., Shaw, A., Howell, D. N., Conlon, P. J., Katsanis, E. N. & Winn, M. P., Apr 1 2015, In : Journal of the American Society of Nephrology. 26, 4, p. 831-843 13 p.

Research output: Contribution to journalArticle

Open Access
25 Scopus citations

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology

Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E. C., Harewood, L., Kosmicki, J. A., Loviglio, M. N., Giannuzzi, G., Hippolyte, L., Maillard, A. M., Alfaiz, A. A., Witwicki, R., Didelot, G., Van Der Werf, I., Alfaiz, A. A., Zazhytska, M., Chrast, J., Macé, A., Bergmann, S. & 41 others, Kutalik, Z., Siffredi, V., Zufferey, F., Martinet, D., Bena, F., Rauch, A., Bouquillon, S., Delobel, B., Boute, O., Duban-Bedu, B., Le Caignec, C., Isidor, B., Chiesa, J., Keren, B., Gilbert-Dussardier, B., Touraine, R., Campion, D., Thambo, C. R., Mathieu-Dramard, M., Plessis, G., Kooy, F., Peeters, H., Ounap, K., Vulto-Van Silfhout, A. T., De Vries, B. B., Van Binsbergen, E., Nordgren, A., Mucciolo, M., Renieri, A., Rajcan-Separovic, E., Philipps, J. A., Ellis, R. J., Van Haelst, M. M., Andrieux, J., Gusella, J. F., Daly, M. J., Beckmann, J. S., Jacquemont, S., Talkowski, M. E., Katsanis, E. N. & Reymond, A., May 7 2015, In : American journal of human genetics. 96, 5, p. 784-796 13 p.

Research output: Contribution to journalArticle

Open Access
27 Scopus citations

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

Borck, G., Hög, F., Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmüller, J., Reymond, A., Nürnberg, P. & 5 others, Merla, G., Dallapiccola, B., Katsanis, E. N., Cramer, P. & Kubisch, C., Feb 1 2015, In : Genome research. 25, 2, p. 155-166 12 p.

Research output: Contribution to journalArticle

Open Access
50 Scopus citations

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Wortmann, S. B., Ziętkiewicz, S., Kousi, M., Szklarczyk, R., Haack, T. B., Gersting, S. W., Muntau, A. C., Rakovic, A., Renkema, G. H., Rodenburg, R. J., Strom, T. M., Meitinger, T., Rubio-Gozalbo, M. E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J. H., Van Karnebeek, C., Lillquist, Y., Lücke, T. & 15 others, Õunap, K., Zordania, R., Yaplito-Lee, J., Van Bokhoven, H., Spelbrink, J. N., Vaz, F. M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M. A. A. P., De Brouwer, A. P. M., Prokisch, H., Katsanis, E. N. & Wevers, R. A., Feb 5 2015, In : American journal of human genetics. 96, 2, p. 245-257 13 p.

Research output: Contribution to journalArticle

Open Access
47 Scopus citations

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

Burrage, L. C., Charng, W. L., Eldomery, M. K., Willer, J. R., Davis, E. E., Lugtenberg, D., Zhu, W., Leduc, M. S., Akdemir, Z. C., Azamian, M., Zapata, G., Hernandez, P. P., Schoots, J., De Munnik, S. A., Roepman, R., Pearring, J. N., Jhangiani, S., Katsanis, E. N., Vissers, L. E. L. M., Brunner, H. G. & 10 others, Beaudet, A. L., Rosenfeld, J. A., Muzny, D. M., Gibbs, R. A., Eng, C. M., Xia, F., Lalani, S. R., Lupski, J. R., Bongers, E. M. H. F. & Yang, Y., Dec 3 2015, In : American Journal of Human Genetics. 97, 6, p. 904-913 10 p.

Research output: Contribution to journalArticle

Open Access
29 Scopus citations

Epigenetic control of intestinal barrier function and inflammation in zebrafish

Marjoram, L., Alvers, A., Deerhake, M. E., Bagwell, J., Mankiewicz, J., Cocchiaro, J. L., Beerman, R. W., Willer, J., Sumigray, K. D., Katsanis, E. N., Tobin, D. M., Rawls, J. F., Goll, M. G. & Bagnat, M., Mar 3 2015, In : Proceedings of the National Academy of Sciences of the United States of America. 112, 9, p. 2770-2775 6 p.

Research output: Contribution to journalArticle

Open Access
66 Scopus citations

Errata: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (Genome Research (2015) 25 (155-166))

Borck, G., Hög, F., Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmüller, J., Reymond, A., Nürnberg, P. & 5 others, Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P. & Kubisch, C., Apr 1 2015, In : Genome research. 25, 4, 1 p.

Research output: Contribution to journalComment/debate

4 Scopus citations

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L. B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S. N., Bainbridge, M. N., Lawson, K. S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P. J., Goksungur, M. T., Shy, M., Crawford, T. O. & 14 others, Koenig, M., Willer, J., Flores, B. N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D. M., Katsanis, E. N., Battaloglu, E., Boerwinkle, E., Gibbs, R. A. & Lupski, J. R., Aug 18 2015, In : Cell reports. 12, 7, p. 1169-1183 15 p.

Research output: Contribution to journalArticle

Open Access
112 Scopus citations

Expansion of CTG18.1 trinucleotide repeat in TCF4 is a potent driver of fuchs’ corneal dystrophy

Vasanth, S., Eghrari, A. O., Gapsis, B. C., Wang, J., Haller, N. F., Stark, W. J., Katsanis, E. N., Amer Riazuddin, S. & Gottsch, J. D., Jan 1 2015, In : Investigative Ophthalmology and Visual Science. 56, 8, p. 4531-4536 6 p.

Research output: Contribution to journalArticle

Open Access
29 Scopus citations

From proteomic data to networks: Statistics and methods reveal ciliary protein interaction landscape

Lu, Q., Koutroumpas, K., Boldt, K., Reeuwijk, J. V., Katsanis, E. N., Képès, F., Roepman, R., Ueffing, M. & Russell, R. B., Jul 13 2015, In : Cilia. SUPPLEMENT 1, P90.

Research output: Contribution to journalArticle

Open Access

Genetic modifiers and oligogenic inheritance

Kousi, M. & Katsanis, E. N., Jun 1 2015, In : Cold Spring Harbor Perspectives in Medicine. 5, 6, p. 1-22 22 p.

Research output: Contribution to journalArticle

Open Access
30 Scopus citations

Identification of cis-suppression of human disease mutations by comparative genomics

Jordan, D. M., Frangakis, S. G., Golzio, C., Cassa, C. A., Kurtzberg, J., Davis, E. E., Sunyaev, S. R. & Katsanis, E. N., Aug 13 2015, In : Nature. 524, 7564, p. 225-229 5 p.

Research output: Contribution to journalArticle

51 Scopus citations

In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress

Anderson, B. R., Howell, D. N., Soldano, K., Garrett, M. E., Katsanis, E. N., Telen, M. J., Davis, E. E. & Ashley-Koch, A. E., Jul 1 2015, In : PLoS genetics. 11, 7, e1005349.

Research output: Contribution to journalArticle

Open Access
26 Scopus citations

Joubert syndrome in French Canadians and identification of mutations in CEP104

Care4Rare Canada Consortium, Nov 5 2015, In : American journal of human genetics. 97, 5, p. 744-753 10 p.

Research output: Contribution to journalArticle

Open Access
26 Scopus citations

Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction

Bainbridge, M. N., Davis, E. E., Choi, W. Y., Dickson, A., Martinez, H. R., Wang, M., Dinh, H., Muzny, D. M., Pignatelli, R., Katsanis, E. N., Boerwinkle, E., Gibbs, R. A. & Jefferies, J. L., Aug 25 2015, In : Circulation: Cardiovascular Genetics. 8, 4, p. 544-552 9 p.

Research output: Contribution to journalArticle

Open Access
27 Scopus citations

Loss of δ-catenin function in severe autism

Turner, T. N., Sharma, K., Oh, E. C., Liu, Y. P., Collins, R. L., Sosa, M. X., Auer, D. R., Brand, H., Sanders, S. J., Moreno-De-Luca, D., Pihur, V., Plona, T., Pike, K., Soppet, D. R., Smith, M. W., Cheung, S. W., Martin, C. L., State, M. W., Talkowski, M. E., Cook, E. & 3 others, Huganir, R., Katsanis, E. N. & Chakravarti, A., Apr 2 2015, In : Nature. 520, 7545, p. 51-56 6 p.

Research output: Contribution to journalArticle

78 Scopus citations

Metabolic regulation and energy homeostasis through the primary cilium

Oh, E. C., Vasanth, S. & Katsanis, E. N., Jan 6 2015, In : Cell Metabolism. 21, 1, p. 21-31 11 p.

Research output: Contribution to journalReview article

Open Access
36 Scopus citations

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Hor, H., Francescatto, L., Bartesaghi, L., Ortega-Cubero, S., Kousi, M., Lorenzo-Betancor, O., Jiménez-Jiménez, F. J., Gironell, A., Clarimón, J., Drechse, O., Agúndez, J. A. G., Kenzelmann Broz, D., Chiquet-Ehrismann, R., Lleó, A., Coria, F., García-Martin, E., Alonso-Navarro, H., Martí, M. J., Kulisevsky, J., Hor, C. N. & 5 others, Ossowski, S., Chrast, R., Katsanis, E. N., Pastor, P. & Estivill, X., Jun 5 2015, In : Human molecular genetics. 24, 20, p. 5677-5686 10 p.

Research output: Contribution to journalArticle

Open Access
47 Scopus citations

Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies

Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., Prudente, S., Fiorenza, M. T., Boitani, C., Philip, N., Niyazov, D., Leoni, C., Nakane, T., Keppler-Noreuil, K. & 11 others, Braddock, S. R., Gillessen-Kaesbach, G., Palleschi, A., Campeau, P. M., Lee, B. H. L., Pouponnot, C., Stella, L., Bocchinfuso, G., Katsanis, E. N., Sol-Church, K. & Tartaglia, M., May 7 2015, In : American journal of human genetics. 96, 5, p. 816-825 10 p.

Research output: Contribution to journalArticle

Open Access
58 Scopus citations

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

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, E. N., Marton, V., Vermeesch, J. R. & 4 others, Davis, E. E., Cowan, N. J., Keays, D. A. & Van Esch, H., Dec 3 2015, In : American journal of human genetics. 97, 6, p. 790-800 11 p.

Research output: Contribution to journalArticle

Open Access
28 Scopus citations

Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction

Bonora, E., Bianco, F., Cordeddu, L., Bamshad, M., Francescatto, L., Dowless, D., Stanghellini, V., Cogliandro, R. F., Lindberg, G., Mungan, Z., Cefle, K., Ozcelik, T., Palanduz, S., Ozturk, S., Gedikbasi, A., Gori, A., Pippucci, T., Graziano, C., Volta, U., Caio, G. & 6 others, Barbara, G., D'Amato, M., Seri, M., Katsanis, E. N., Romeo, G. & De Giorgio, R., Apr 1 2015, In : Gastroenterology. 148, 4, p. 771-782.e11

Research output: Contribution to journalArticle

38 Scopus citations

Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia

Gordon, C. T., Weaver, K. N., Zechi-Ceide, R. M., Madsen, E. C., Tavares, A. L. P., Oufadem, M., Kurihara, Y., Adameyko, I., Picard, A., Breton, S., Pierrot, S., Biosse-Duplan, M., Voisin, N., Masson, C., Bole-Feysot, C., Nitschké, P., Delrue, M. A., Lacombe, D., Guion-Almeida, M. L., Moura, P. P. & 13 others, Garib, D. G., Munnich, A., Ernfors, P., Hufnagel, R. B., Hopkin, R. J., Kurihara, H., Saal, H. M., Weaver, D. D., Katsanis, E. N., Lyonnet, S., Golzio, C., Clouthier, D. E. & Amiel, J., Apr 2 2015, In : American journal of human genetics. 96, 4, p. 519-531 13 p.

Research output: Contribution to journalArticle

Open Access
19 Scopus citations

Neuroanatomical and behavioral deficits in mice haploinsufficient for Pericentriolar material 1 (Pcm1)

Zoubovsky, S., Oh, E. C., Cash-Padgett, T., Johnson, A. W., Hou, Z., Mori, S., Gallagher, M., Katsanis, E. N., Sawa, A. & Jaaro-Peled, H., Sep 1 2015, In : Neuroscience Research. 98, p. 45-49 5 p.

Research output: Contribution to journalArticle

9 Scopus citations

Newborn screening and the era of medical genomics

Francescatto, L. & Katsanis, E. N., Dec 2015, In : Seminars in Perinatology. 39, 8, p. 617-622 6 p.

Research output: Contribution to journalReview article

12 Scopus citations

Phosphorylation of threonine 794 on Tie1 by Rac1/PAK1 reveals a novel angiogenesis regulatory pathway

Reinardy, J. L., Corey, D. M., Golzio, C., Mueller, S. B., Katsanis, E. N. & Kontos, C. D., Oct 5 2015, In : PloS one. 10, 10, e0139614.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Bögershausen, N., Tsai, I. C., Pohl, E., Kiper, P. O. S., Beleggia, F., Ferda Percin, E., Keupp, K., Matchan, A., Milz, E., Alanay, Y., Kayserili, H., Liu, Y., Banka, S., Kranz, A., Zenker, M., Wieczorek, D., Elcioglu, N., Prontera, P., Lyonnet, S., Meitinger, T. & 8 others, Francis Stewart, A., Donnai, D., Strom, T. M., Boduroglu, K., Yigit, G., Li, Y., Katsanis, E. N. & Wollnik, B., Sep 1 2015, In : Journal of Clinical Investigation. 125, 9, p. 3585-3599 15 p.

Research output: Contribution to journalArticle

Open Access
33 Scopus citations

Rapid and efficient generation of transgene-free iPSC from a small volume of cryopreserved blood

Zhou, H., Martinez, H., Sun, B., Li, A., Zimmer, M., Katsanis, E. N., Davis, E. E., Kurtzberg, J., Lipnick, S., Noggle, S., Rao, M. & Chang, S., Aug 1 2015, In : Stem Cell Reviews and Reports. 11, 4, p. 652-665 14 p., A004.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly

Mao, H., Pilaz, L. J., McMahon, J. J., Golzio, C., Wu, D., Shi, L., Katsanis, E. N. & Silver, D. L., May 6 2015, In : Journal of Neuroscience. 35, 18, p. 7003-7018 16 p.

Research output: Contribution to journalArticle

Open Access
37 Scopus citations

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Zech, M., Lam, D. D., Francescatto, L., Schormair, B., Salminen, A. V., Jochim, A., Wieland, T., Lichtner, P., Peters, A., Gieger, C., Lochmüller, H., Strom, T. M., Haslinger, B., Katsanis, E. N. & Winkelmann, J., May 1 2015, In : American Journal of Human Genetics. 96, 6, p. 883-893 11 p.

Research output: Contribution to journalArticle

Open Access
44 Scopus citations

Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics

Boldt, K., Van Reeuwijk, J., Lu, Q., Koutroumpas, K., Horn, N., Van Beersum, S., Texier, Y., Nguyen, T. M., Willer, J. R., Katsanis, E. N., Képès, F., Russell, R. B., Ueffing, M., Roepman, R. & E.U. The Syscilia Consortium, T. S. C., Jul 13 2015, In : Cilia. SUPPLEMENT 1, P89.

Research output: Contribution to journalArticle

Open Access

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

O'Rawe, J. A., Wu, Y., Dörfel, M. J., Rope, A. F., Au, P. Y. B., 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. & 28 others, 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, E. 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., Dec 3 2015, In : American journal of human genetics. 97, 6, p. 922-932 11 p.

Research output: Contribution to journalArticle

Open Access
38 Scopus citations