Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
Gusev, Alexander, Mancuso, Nicholas, Won, Hyejung, Kousi, Maria, Finucane, Hilary K., Reshef, Yakir, Song, Lingyun, Safi, Alexias, McCarroll, Steven, Neale, Benjamin M., Ophoff, Roel A., O’Donovan, Michael C., Crawford, Gregory E., Geschwind, Daniel H., Katsanis, Nicholas, Sullivan, Patrick F., Pasaniuc, Bogdan, Price, Alkes L.
Published in Nature genetics (01.04.2018)
Published in Nature genetics (01.04.2018)
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Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae
Chen, Chuyi, Gu, Yuyang, Philippe, Julien, Zhang, Peiran, Bachman, Hunter, Zhang, Jinxin, Mai, John, Rufo, Joseph, Rawls, John F., Davis, Erica E., Katsanis, Nicholas, Huang, Tony Jun
Published in Nature communications (18.02.2021)
Published in Nature communications (18.02.2021)
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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D, Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J, Katsanis, Nicholas, Gusella, James F, Talkowski, Michael E
Published in Proceedings of the National Academy of Sciences - PNAS (21.10.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (21.10.2014)
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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Nesin, Vasyl, Wiley, Graham, Kousi, Maria, Ong, E-Ching, Lehmann, Thomas, Nicholl, David J., Suri, Mohnish, Shahrizaila, Nortina, Katsanis, Nicholas, Gaffney, Patrick M., Wierenga, Klaas J., Tsiokas, Leonidas
Published in Proceedings of the National Academy of Sciences - PNAS (18.03.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (18.03.2014)
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, Jacques S., Katsanis, Nicholas
Published in Nature (London) (17.05.2012)
Published in Nature (London) (17.05.2012)
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The ciliopathies: an emerging class of human genetic disorders
Badano, Jose L, Mitsuma, Norimasa, Beales, Phil L, Katsanis, Nicholas
Published in Annual review of genomics and human genetics (01.01.2006)
Published in Annual review of genomics and human genetics (01.01.2006)
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Journal Article
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Reiter, Jeremy F, Garcia-Gonzalo, Francesc R, Corbit, Kevin C, Sirerol-Piquer, María Salomé, Ramaswami, Gokul, Otto, Edgar A, Noriega, Thomas R, Seol, Allen D, Robinson, Jon F, Bennett, Christopher L, Josifova, Dragana J, García-Verdugo, José Manuel, Katsanis, Nicholas, Hildebrandt, Friedhelm
Published in Nature genetics (01.08.2011)
Published in Nature genetics (01.08.2011)
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Journal Article
Newborn screening and the era of medical genomics
Francescatto, Ludmila, PhD, Katsanis, Nicholas, PhD
Published in Seminars in perinatology (01.12.2015)
Published in Seminars in perinatology (01.12.2015)
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Journal Article
Epigenetic control of intestinal barrier function and inflammation in zebrafish
Marjoram, Lindsay, Alvers, Ashley, Deerhake, M. Elizabeth, Bagwell, Jennifer, Mankiewicz, Jamie, Cocchiaro, Jordan L., Beerman, Rebecca W., Willer, Jason, Sumigray, Kaelyn D., Katsanis, Nicholas, Tobin, David M., Rawls, John F., Goll, Mary G., Bagnat, Michel
Published in Proceedings of the National Academy of Sciences - PNAS (03.03.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (03.03.2015)
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Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis
Kim, Su Kyoung, Shindo, Asako, Park, Tae Joo, Oh, Edwin C, Ghosh, Srimoyee, Gray, Ryan S, Lewis, Richard A, Johnson, Colin A, Attie-Bittach, Tania, Katsanis, Nicholas, Wallingford, John B
Published in Science (American Association for the Advancement of Science) (10.09.2010)
Published in Science (American Association for the Advancement of Science) (10.09.2010)
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A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
Raychaudhuri, Soumya, Seddon, Johanna M, Iartchouk, Oleg, Chin, Kimberly, Tan, Perciliz L, Tai, Albert K, Ripke, Stephan, Gowrisankar, Sivakumar, Vemuri, Soumya, Montgomery, Kate, Yu, Yi, Reynolds, Robyn, Zack, Donald J, Campochiaro, Betsy, Campochiaro, Peter, Katsanis, Nicholas, Daly, Mark J
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
Sarparanta, Jaakko, Jonson, Per Harald, Golzio, Christelle, Sandell, Satu, Luque, Helena, Screen, Mark, McDonald, Kristin, Stajich, Jeffrey M, Mahjneh, Ibrahim, Vihola, Anna, Raheem, Olayinka, Penttilä, Sini, Lehtinen, Sara, Huovinen, Sanna, Palmio, Johanna, Tasca, Giorgio, Ricci, Enzo, Hackman, Peter, Hauser, Michael, Katsanis, Nicholas, Udd, Bjarne
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Journal Article
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Dougherty, Gerard W, Loges, Niki T, Klinkenbusch, Judith A, Olbrich, Heike, Pennekamp, Petra, Menchen, Tabea, Raidt, Johanna, Wallmeier, Julia, Werner, Claudius, Westermann, Cordula, Ruckert, Christian, Mirra, Virginia, Hjeij, Rim, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Praveen, Kavita, Kashef, Mohammad A, Kashef, Sara, Eghtedari, Fardin, Häffner, Karsten, Valmari, Pekka, Baktai, György, Aviram, Micha, Bentur, Lea, Amirav, Israel, Davis, Erica E, Katsanis, Nicholas, Brueckner, Martina, Shaposhnykov, Artem, Pigino, Gaia, Dworniczak, Bernd, Omran, Heymut
Published in American journal of respiratory cell and molecular biology (01.08.2016)
Published in American journal of respiratory cell and molecular biology (01.08.2016)
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