Elias Nicholas Katsanis

  • 23371 Citations
19952020

Research output per year

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Research Output

2020

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Mizumoto, S., Janecke, A. R., Sadeghpour, A., Povysil, G., McDonald, M. T., Unger, S., Greber-Platzer, S., Deak, K. L., Katsanis, N., Superti-Furga, A., Sugahara, K., Davis, E. E., Yamada, S. & Vodopiutz, J., Mar 1 2020, In : Human mutation. 41, 3, p. 655-667 13 p.

Research output: Contribution to journalArticle

Open Access

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

Harel, T., Griffin, J. N., Arbogast, T., Monroe, T. O., Palombo, F., Martinelli, M., Seri, M., Pippucci, T., Elpeleg, O. & Katsanis, N., Jun 3 2020, In : Human molecular genetics. 29, 9, p. 1489-1497 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Maresca, A., Caporali, L., Palombo, F., Tagliavini, F., Baugh, E. H., MacAo, B., Szilagyi, Z., Peron, C., Gustafson, M. A., Khan, K., La Morgia, C., Barboni, P., Carbonelli, M., Valentino, M. L., Liguori, R. & 27 others, Shashi, V., Sullivan, J., Nagaraj, S., El-Dairi, M., Iannaccone, A., Cutcutache, I., Bertini, E., Carrozzo, R., Emma, F., Diomedi-Camassei, F., Zanna, C., Armstrong, M., Page, M., Stong, N., Boesch, S., Kopajtich, R., Wortmann, S., Sperl, W., Davis, E. E., Copeland, W. C., Seri, M., Falkenberg, M., Prokisch, H., Katsanis, N., Tiranti, V., Pippucci, T. & Carelli, V., Jan 2 2020, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations
2019

A Genocentric Approach to Discovery of Mendelian Disorders

Task Force for Neonatal Genomics, Nov 7 2019, In : American journal of human genetics. 105, 5, p. 974-986 13 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

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, E. N., Walsh, C. & 2 others, Davis, E. E. & Antonarakis, S. E., Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1073-1087 15 p.

Research output: Contribution to journalArticle

2 Scopus citations

Contactless, programmable acoustofluidic manipulation of objects on water

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., Oct 21 2019, In : Lab on a Chip. 19, 20, p. 3397-3404 8 p.

Research output: Contribution to journalArticle

3 Scopus citations
Open Access
3 Scopus citations

Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Thompson, B., Katsanis, N., Apostolopoulos, N., Thompson, D. C., Nebert, D. W. & Vasiliou, V., Dec 3 2019, In : Human genomics. 13, 1, 61.

Research output: Contribution to journalReview article

Open Access

Genetic variation across the human olfactory receptor repertoire alters odor perception

Trimmer, C., Keller, A., Murphy, N. R., Snyder, L. L., Willer, J. R., Nagai, M. H., Katsanis, E. N., Vosshall, L. B., Matsunami, H. & Mainland, J. D., May 7 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 19, p. 9475-9480 6 p.

Research output: Contribution to journalArticle

10 Scopus citations

Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies

Tsai, I. C., Adams, K. A., Tzeng, J. A., Shennib, O., Tan, P. L. & Katsanis, N., Nov 14 2019, In : JCI Insight. 4, 22, e130516.

Research output: Contribution to journalArticle

Open Access

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

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, E. N. & Aoki, Y., Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1233-1240 8 p.

Research output: Contribution to journalArticle

4 Scopus citations

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

Arbogast, T., Razaz, P., Ellegood, J., Mckinstry, S. U., Erdin, S., Currall, B., Aneichyk, T., Lerch, J. P., Qiu, L. R., Rodriguiz, R. M., Henkelman, R. M., Talkowski, M. E., Wetsel, W. C., Golzio, C. & Katsanis, E. N., Jan 1 2019, In : Human molecular genetics. 28, 9, p. 1474-1486 13 p., ddy436.

Research output: Contribution to journalArticle

6 Scopus citations

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

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, E. N. & Pecci, A., Jan 1 2019, In : Blood. 133, 12, p. 1346-1357 12 p.

Research output: Contribution to journalArticle

4 Scopus citations

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

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., Apr 16 2019, In : Human genomics. 13, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Task Force for Neonatal Genomics, Jan 3 2019, In : American journal of human genetics. 104, 1, p. 94-111 18 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

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, E. N., Messer, K. & Sebat, J., Sep 24 2019, In : Cell reports. 28, 13, p. 3320-3328.e4

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

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. & 25 others, 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, E. N., Devriendt, K., Bauer, P., Gecz, J., Golzio, C., Gontan, C. & Kalscheuer, V. M., Nov 1 2019, In : Molecular Psychiatry. 24, 11, p. 1748-1768 21 p.

Research output: Contribution to journalArticle

2 Scopus citations

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5

Monzon, A. M., Carraro, M., Chiricosta, L., Reggiani, F., Han, J., Ozturk, K., Wang, Y., Miller, M., Bromberg, Y., Capriotti, E., Savojardo, C., Babbi, G., Martelli, P. L., Casadio, R., Katsonis, P., Lichtarge, O., Carter, H., Kousi, M., Katsanis, E. N., Andreoletti, G. & 5 others, Moult, J., Brenner, S. E., Ferrari, C., Leonardi, E. & Tosatto, S. C. E., Sep 1 2019, In : Human mutation. 40, 9, p. 1474-1485 12 p.

Research output: Contribution to journalArticle

3 Scopus citations

Polyketide Synthase Plays a Conserved Role in Otolith Formation

Lee, M. S., Philippe, J., Katsanis, E. N. & Zhou, W., Aug 2019, In : Zebrafish. 16, 4, p. 363-369 7 p.

Research output: Contribution to journalArticle

1 Scopus citations

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Khan, K., Zech, M., Morgan, A. T., Amor, D. J., Skorvanek, M., Khan, T. N., Hildebrand, M. S., Jackson, V. E., Scerri, T. S., Coleman, M., Rigbye, K. A., Scheffer, I. E., Bahlo, M., Wagner, M., Lam, D. D., Berutti, R., Havránková, P., Fečíková, A., Strom, T. M., Han, V. & 10 others, Dosekova, P., Gdovinova, Z., Laccone, F., Jameel, M., Mooney, M. R., Baig, S. M., Jech, R., Davis, E. E., Katsanis, E. N. & Winkelmann, J., Nov 1 2019, In : Genetics in Medicine. 21, 11, p. 2532-2542 11 p.

Research output: Contribution to journalArticle

1 Scopus citations
2018

2017 Curt Stern Award: The Complexity of Simple Genetics1

Katsanis, E. N., Mar 1 2018, In : American Journal of Human Genetics. 102, 3, p. 355-358 4 p.

Research output: Contribution to journalComment/debate

Open Access

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Kellaris, G., Khan, K., Baig, S. M., Tsai, I. C., Zamora, F. M., Ruggieri, P., Natowicz, M. R. & Katsanis, E. N., Jan 26 2018, In : Human genomics. 12, 1, 11.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Bardet-biedl syndrome

Liu, Y. P. & Katsanis, N., Jan 1 2018, Polycystic Kidney Disease: Translating Mechanisms into Therapy. Taylor and Francis, p. 27-50 24 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Mehrjardi, M. Y. V., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, E. N., Maroofian, R., Servidei, S. & Tartaglia, M., Jan 1 2018, In : Neurology. 91, 4, p. E319-E330

Research output: Contribution to journalArticle

5 Scopus citations

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

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. & 39 others, 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, E. N., Bézieau, S., Koenig, M., Davis, E. E., Pasquier, L. & Küry, S., May 3 2018, In : American journal of human genetics. 102, 5, p. 744-759 16 p.

Research output: Contribution to journalArticle

Open Access
11 Scopus citations

Endoglin interacts with VEGFR2 to promote angiogenesis

Tian, H., Huang, J. J., Golzio, C., Gao, X., Hector-Greene, M., Katsanis, E. N. & Blobe, G. C., Jun 2018, In : FASEB Journal. 32, 6, p. 2934-2949 16 p.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

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. & 17 others, 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, E. N., Faivre, L. & Fabre, A., Mar 1 2018, In : American journal of human genetics. 102, 3, p. 364-374 11 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

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, E. N., Dec 1 2018, In : Scientific reports. 8, 1, 10779.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

Survey of human chromosome 21 gene expression effects on early development in Danio rerio

Edie, S., Zaghloul, N. A., Leitch, C. C., Klinedinst, D. K., Lebron, J., Thole, J. F., McCallion, A. S., Katsanis, E. N. & Reeves, R. H., Jul 1 2018, In : G3: Genes, Genomes, Genetics. 8, 7, p. 2215-2223 9 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

The complexity of the cilium: spatiotemporal diversityof an ancient organelle

Heydeck, W., Fievet, L., Davis, E. E. & Katsanis, E. N., Dec 2018, In : Current Opinion in Cell Biology. 55, p. 139-149 11 p.

Research output: Contribution to journalReview article

6 Scopus citations

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Gusev, A., Mancuso, N., Won, H., Kousi, M., Finucane, H. K., Reshef, Y., Song, L., Safi, A., McCarroll, S., Neale, B. M., Ophoff, R. A., O'Donovan, M. C., Crawford, G. E., Geschwind, D. H., Katsanis, E. N., Sullivan, P. F., Pasaniuc, B. & Price, A. L., Apr 1 2018, In : Nature Genetics. 50, 4, p. 538-548 11 p.

Research output: Contribution to journalArticle

65 Scopus citations

Treating human genetic disease one base pair at a time: The benefits of gene editing

Katsanis, E. N., Mar 1 2018, In : Clinical Chemistry. 64, 3, p. 486-488 3 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2017

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis

FORGE Canada Consortium Canadian Rare Diseases: Models and Mechanisms Network, Jul 1 2017, In : Journal of medical genetics. 54, 7, p. 490-501 12 p.

Research output: Contribution to journalArticle

18 Scopus citations

BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1

Prieto-Echagüe, V., Lodh, S., Colman, L., Bobba, N., Santos, L., Katsanis, N., Escande, C., Zaghloul, N. A. & Badano, J. L., Dec 1 2017, In : Scientific reports. 7, 1, 9765.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

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. & 40 others, 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. F., Eichler, E. E., Retterer, K., Yang, Y., Redon, R., Katsanis, E. N., Rosenfeld, J. A., Kloetzel, P. M., Golzio, C., Bézieau, S., Stankiewicz, P. & Isidor, B., Feb 2 2017, In : American journal of human genetics. 100, 2, p. 352-363 12 p.

Research output: Contribution to journalArticle

Open Access
29 Scopus citations
Open Access
6 Scopus citations

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., 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. & 41 others, 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. F., 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., Apr 6 2017, In : American journal of human genetics. 100, 4, 1 p.

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

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. & 29 others, 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., Materna-Kiryluk, A., Mane, S., Goldstein, D. B., Lifton, R. P., Katsanis, E. N., Davis, E. E. & Gharavi, A. G., Nov 2 2017, In : American Journal of Human Genetics. 101, 5, p. 789-802 14 p.

Research output: Contribution to journalArticle

Open Access
21 Scopus citations

Genetic drivers of kidney defects in the digeorge syndrome

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. & 62 others, 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. E., 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, E. N. & Sanna-Cherchi, S., Feb 23 2017, In : New England Journal of Medicine. 376, 8, p. 742-754 13 p.

Research output: Contribution to journalArticle

45 Scopus citations

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

International AMD Genomics Consortium (IAMDGC), Mar 27 2017, In : Genome Medicine. 9, 1, 29.

Research output: Contribution to journalArticle

Open Access
27 Scopus citations

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Deciphering Developmental Disorders Study, Oct 5 2017, In : American journal of human genetics. 101, 4, p. 503-515 13 p.

Research output: Contribution to journalArticle

Open Access
19 Scopus citations

Molecular Genetic Testing and the Future of Clinical Genomics

Katsanis, S. H. & Katsanis, E. N., Jan 1 2017, Genomic and Precision Medicine: Foundations, Translation, and Implementation: Third Edition. Elsevier Inc, p. 263-282 20 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

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, E. N., Elpeleg, O. & Davis, E. E., Apr 6 2017, In : American Journal of Human Genetics. 100, 4, p. 666-675 10 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT 140 that causes Mainzer-Saldino syndrome

Helm, B. M., Willer, J. R., Sadeghpour, A., Golzio, C., Crouch, E., Vergano, S. S., Katsanis, E. N. & Davis, E. E., Mar 4 2017, In : Human genomics. 11, 1, 16.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

Liu, Y. P., Bosch, D. G. M., Siemiatkowska, A. M., Rendtorff, N. D., Boonstra, F. N., Möller, C., Tranebjærg, L., Katsanis, E. N. & Cremers, F. P. M., Mar 4 2017, In : Ophthalmic Genetics. 38, 2, p. 127-132 6 p.

Research output: Contribution to journalArticle

Open Access
9 Scopus citations

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Deciphering Developmental Disorders Study, Sep 7 2017, In : American journal of human genetics. 101, 3, p. 466-477 12 p.

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30 Scopus citations

Recombinant haplotypes narrow the ARMS2/HTRA1 association signal for age-related macular degeneration

International AMD Genomics Consortium (IAMDGC), Feb 2017, In : Genetics. 205, 2, p. 919-924 6 p.

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25 Scopus citations

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

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. & 58 others, 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., Garciá-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, E. N., Jones, P. L., Crowley, W. F., Davis, E. E., Fitzpatrick, D. R. & Talkowski, M. E., Jan 31 2017, In : Nature Genetics. 49, 2, p. 238-248 11 p.

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49 Scopus citations

Systematic functional testing of rare variants: Contributions of CFI to age-related macular degeneration

Tan, P. L., Garrett, M. E., Willer, J. R., Campochiaro, P. A., Campochiaro, B., Zack, D. J., Ashley-Koch, A. E. & Katsanis, E. N., Mar 2017, In : Investigative Ophthalmology and Visual Science. 58, 3, p. 1570-1576 7 p.

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2 Scopus citations