A rare penetrant mutation in CFH confers high risk of age-related macular degeneration von 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

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Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) von Neale, Benjamin M, Fagerness, Jesen, Reynolds, Robyn, Sobrin, Lucia, Parker, Margaret, Raychaudhuri, Soumya, Tan, Perciliz L, Oh, Edwin C, Merriam, Joanna E, Souied, Eric, Bernstein, Paul S, Li, Binxing, Frederick, Jeanne M, Zhang, Kang, Brantley, Milam A. Jr, Lee, Aaron Y, Zack, Donald J, Campochiaro, Betsy, Campochiaro, Peter, Ripke, Stephan, Smith, R. Theodore, Barile, Gaetano R, Katsanis, Nicholas, Allikmets, Rando, Daly, Mark J, Seddon, Johanna M

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Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome von Tsai, I-Chun, McKnight, Kelly, McKinstry, Spencer U., Maynard, Andrew T., Tan, Perciliz L., Golzio, Christelle, White, C. Thomas, Price, Daniel J., Davis, Erica E., Amrine-Madsen, Heather, Katsanis, Nicholas

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Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome von Schulte, Eva C., Kousi, Maria, Tan, Perciliz L., Tilch, Erik, Knauf, Franziska, Lichtner, Peter, Trenkwalder, Claudia, Högl, Birgit, Frauscher, Birgit, Berger, Klaus, Fietze, Ingo, Hornyak, Magdolna, Oertel, Wolfgang H., Bachmann, Cornelius G., Zimprich, Alexander, Peters, Annette, Gieger, Christian, Meitinger, Thomas, Müller-Myhsok, Bertram, Katsanis, Nicholas, Winkelmann, Juliane

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration von Seddon, Johanna M, Yu, Yi, Miller, Elizabeth C, Reynolds, Robyn, Tan, Perciliz L, Gowrisankar, Sivakumar, Goldstein, Jacqueline I, Triebwasser, Michael, Anderson, Holly E, Zerbib, Jennyfer, Kavanagh, David, Souied, Eric, Katsanis, Nicholas, Daly, Mark J, Atkinson, John P, Raychaudhuri, Soumya

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes von Reijnders, Margot R.F., Ansor, Nurhuda M., Kousi, Maria, Yue, Wyatt W., Tan, Perciliz L., Clarkson, Katie, Clayton-Smith, Jill, Corning, Ken, Jones, Julie R., Lam, Wayne W.K., Mancini, Grazia M.S., Marcelis, Carlo, Mohammed, Shehla, Pfundt, Rolph, Roifman, Maian, Cohn, Ronald, Chitayat, David, Millard, Tom H., Katsanis, Nicholas, Brunner, Han G., Banka, Siddharth

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AMD and the alternative complement pathway: genetics and functional implications von Tan, Perciliz L, Bowes Rickman, Catherine, Katsanis, Nicholas

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Loss of Bardet-Biedl syndrome proteins causes defects in peripheral sensory innervation and function von Tan, Perciliz L, Barr, Travis, Inglis, Peter N, Mitsuma, Norimasa, Huang, Susan M, Garcia-Gonzalez, Miguel A, Bradley, Brian A, Coforio, Stephanie, Albrecht, Phillip J, Watnick, Terry, Germino, Gregory G, Beales, Philip L, Caterina, Michael J, Leroux, Michel R, Rice, Frank L, Katsanis, Nicholas

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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility von Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz L., Bourchany, Aurélie, De Leusse, Cécile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Céline, Bruel, Ange-Line, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Hery, Géraldine, Huet, Frédéric, Gauchez, Philippe, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Rivière, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre

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BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies von Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L, Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris-Rosendahl, Deborah J, Altmüller, Janine, Reymond, Alexandre, Nürnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian

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Toll-like Receptor 3 and Geographic Atrophy in Age-Related Macular Degeneration von Yang, Xian, Yang, Zhenglin, Stratton, Charity, Francis, Peter J, Kleinman, Mark E, Tan, Perciliz L, Gibbs, Daniel, Tong, Zongzhong, Chen, Yuhong, Chen, Haoyu, Constantine, Ryan, Zeng, Jiexi, Davey, Lisa, Ma, Xiang, Hau, Vincent S, Wang, Chi, Harmon, Jennifer, Buehler, Jeanette, Pearson, Erik, Patel, Shrena, Kaminoh, Yuuki, Watkins, Scott, Luo, Ling, Zabriskie, Norman A, Bernstein, Paul S, Cho, Wongil, Schwager, Andrea, Hinton, David R, Klein, Michael L, Hamon, Sara C, Simmons, Emily, Yu, Beifeng, Campochiaro, Betsy, Campochiaro, Peter, Sunness, Janet S, Jorde, Lynn, Parmigiani, Giovanni, Zack, Donald J, Katsanis, Nicholas, Ambati, Jayakrishna, Zhang, Kang

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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates von Phillips, Helen M, Dollfus, Hélène, Leroux, Michel R, Chapple, J Paul, Jagger, Daniel J, Ross, Alison J, Katsanis, Nicholas, Forge, Andrew, Hill, Josephine, Kemp, David T, Eliot, Marie-Madeleine, Lupski, James R, Leitch, Carmen C, Murdoch, Jennifer N, Beales, Philip L, Fisher, Shannon, Tan, Perciliz L, Henderson, Deborah J, Tada, Masazumi, Eichers, Erica R, May-Simera, Helen, Munro, Peter M, Copp, Andrew J, Kai, Masatake

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Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration von Tan, Perciliz L, Garrett, Melanie E, Willer, Jason R, Campochiaro, Peter A, Campochiaro, Betsy, Zack, Donald J, Ashley-Koch, Allison E, Katsanis, Nicholas

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Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation von Gascue, Cecilia, Tan, Perciliz L, Cardenas-Rodriguez, Magdalena, Libisch, Gabriela, Fernandez-Calero, Tamara, Liu, Yangfan P, Astrada, Soledad, Robello, Carlos, Naya, Hugo, Katsanis, Nicholas, Badano, Jose L

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G Protein-Coupled Receptors in Anopheles gambiae von Hill, Catherine A., Fox, A. Nicole, Pitts, R. Jason, Kent, Lauren B., Tan, Perciliz L., Chrystal, Mathew A., Cravchik, Anibal, Collins, Frank H., Robertson, Hugh M., Zwiebel, Laurence J.

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Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-related Macular Degeneration Subtypes von Sobrin, Lucia, MD, MPH, Ripke, Stephan, MD, Yu, Yi, PhD, Fagerness, Jesen, JD, Bhangale, Tushar R., PhD, Tan, Perciliz L., BSc, Souied, Eric H., MD, PhD, Buitendijk, Gabriëlle H.S., MD, MSc, Merriam, Joanna E., MD, PhD, Richardson, Andrea J., BSc, Raychaudhuri, Soumya, MD, PhD, Reynolds, Robyn, MPH, Chin, Kimberly A., BA, Lee, Aaron Y., MD, Leveziel, Nicolas, MD, PhD, Zack, Donald J., MD, PhD, Campochiaro, Peter, MD, Smith, R. Theodore, MD, PhD, Barile, Gaetano R., MD, Hogg, Ruth E., PhD, Chakravarthy, Usha, MD, PhD, Behrens, Timothy W., MD, Uitterlinden, André G., PhD, van Duijn, Cornelia M., PhD, Vingerling, Johannes R., MD, PhD, Brantley, Milam A., MD, PhD, Baird, Paul N., PhD, Klaver, Caroline C.W., MD, PhD, Allikmets, Rando, PhD, Katsanis, Nicholas, PhD, Graham, Robert R., PhD, Ioannidis, John P.A., MD, DSc, Daly, Mark J., PhD, Seddon, Johanna M., MD, ScM

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Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies von Tsai, I-Chun, Adams, Kevin A, Tzeng, Joyce A, Shennib, Omar, Tan, Perciliz L, Katsanis, Nicholas

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Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome von Abd-El-Barr, Muhammad M., Sykoudis, Kristen, Andrabi, Sara, Eichers, Erica R., Pennesi, Mark E., Tan, Perciliz L., Wilson, John H., Katsanis, Nicholas, Lupski, James R., Wu, Samuel M.

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Thermosensory and mechanosensory perception in human genetic disease von Tan, Perciliz L., Katsanis, Nicholas

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BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies von Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L, Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Holger, Thiele, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris-Rosendahl, Deborah J, Altmüller, Janine, Reymond, Alexandre, Nünberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian

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