Thermosensory and mechanosensory perception in human genetic disease

par Tan, Perciliz L., Katsanis, Nicholas
Publié 2009

AMD and the alternative complement pathway: genetics and functional implications

par Tan, Perciliz L., Bowes Rickman, Catherine, Katsanis, Nicholas
Publié dans Hum Genomics (2016)

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

par Tsai, I-Chun, Adams, Kevin A., Tzeng, Joyce A., Shennib, Omar, Tan, Perciliz L., Katsanis, Nicholas
Publié dans JCI Insight (2019)

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration

par Tan, Perciliz L., Garrett, Melanie E., Willer, Jason R., Campochiaro, Peter A., Campochiaro, Betsy, Zack, Donald J., Ashley-Koch, Allison E., Katsanis, Nicholas
Publié dans Invest Ophthalmol Vis Sci (2017)

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

par 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.
Publié 2012

PCM1 is recruited to the centrosome by the cooperative action of DISC1 and BBS4 and is a candidate for psychiatric illness

par Kamiya, Atsushi, Tan, Perciliz L., Kubo, Ken-ichiro, Engelhard, Caitlin, Ishizuka, Koko, Kubo, Akiharu, Tsukita, Sachiko, Pulver, Ann E., Nakajima, Kazunori, Cascella, Nicola G., Katsanis, Nicholas, Sawa, Akira
Publié 2008

Impaired Photoreceptor Protein Transport and Synaptic Transmission in a Mouse Model of Bardet-Biedl Syndrome

par 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.
Publié 2007

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

par 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
Publié dans Sci Rep (2018)

Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup'ik Eskimo Populations

par Chung, Wendy K., Patki, Amit, Matsuoka, Naoki, Boyer, Bert B., Liu, Nianjun, Musani, Solomon K., Goropashnaya, Anna V., Tan, Perciliz L., Katsanis, Nicholas, Johnson, Stephen B., Gregersen, Peter K., Allison, David B., Leibel, Rudolph L., Tiwari, Hemant K.
Publié 2009

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

par Raychaudhuri, Soumya, Iartchouk, Oleg, Chin, Kimberly, Tan, Perciliz L., Tai, Albert, Ripke, Stephan, Gowrisankar, Sivakumar, Vemuri, Soumya, Montgomery, Kate, Yu, Yi, Reynolds, Robyn, Zack, Donald J., Campochiaro, Betsy, Campochiaro, Peter, Katsanis, Nicholas, Daly, Mark J., Seddon, Johanna M.
Publié 2011

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

par 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, Raychaudhuri, Soumya
Publié 2013

Loss of Bardet–Biedl syndrome proteins causes defects in peripheral sensory innervation and function

par 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
Publié 2007

Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome

par 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
Publié 2014

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

par 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
Publié dans Genome Res (2015)

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

par 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
Publié dans Genome Res (2015)

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

par 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
Publié dans Am J Hum Genet (2017)

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

par 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., 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.
Publié 2010

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

par 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
Publié dans Am J Hum Genet (2018)

Toll-Like Receptor-3 and Geographic Atrophy in Age-Related Macular Degeneration

par Yang, Zhenglin, Stratton, Charity, Francis, Peter J., Kleinman, Mark E., Tan, Perciliz L., Gibbs, Daniel, Tong, Zongzhong, Chen, Haoyu, Constantine, Ryan, Yang, Xian, Chen, Yuhong, 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, Sunness, Janet S., Campochiaro, Peter, Jorde, Lynn, Parmigiani, Giovanni, Zack, Donald J., Katsanis, Nicholas, Ambati, Jayakrishna, Zhang, Kang
Publié 2008

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

par Khanna, Hemant, Davis, Erica E., Murga-Zamalloa, Carlos A., Estrada, Alejandro, Lopez, Irma, den Hollander, Anneke I., Zonneveld, Marijke N., Othman, Mohammad I., Waseem, Naushin, Chakarova, Christina F., Maubaret, Cecilia, Diaz-Font, Anna, MacDonald, Ian, Muzny, Donna M., Wheeler, David A., Morgan, Margaret, Lewis, Lora R., Logan, Clare V., Tan, Perciliz L., Beer, Michael A., Inglehearn, Chris F., Lewis, Richard A., Jacobson, Samuel G., Bergmann, Carsten, Beales, Philip L., Attié-Bitach, Tania, Johnson, Colin A., Otto, Edgar A., Bhattacharya, Shomi S., Hildebrandt, Friedhelm, Gibbs, Richard A., Koenekoop, Robert K., Swaroop, Anand, Katsanis, Nicholas
Publié 2009