Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy

por Liu, Yangfan P., Bosch, Daniëlle G.M., Siemiatkowska, Anna M., Rendtorff, Nanna Dahl, Boonstra, F. Nienke, Möller, Claes, Tranebjærg, Lisbeth, Katsanis, Nicholas, Cremers, Frans P.M.
Publicado en Ophthalmic Genet (2016)

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

por 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.
Publicado 2012

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

por Liu, Yangfan P., Tsai, I-Chun, Morleo, Manuela, Oh, Edwin C., Leitch, Carmen C., Massa, Filomena, Lee, Byung-Hoon, Parker, David S., Finley, Daniel, Zaghloul, Norann A., Franco, Brunella, Katsanis, Nicholas
Publicado 2014

A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity

por Lim, Elaine T., Liu, Yangfan P., Chan, Yingleong, Tiinamaija, Tuomi, Käräjämäki, AnnMari, Madsen, Erik, Altshuler, David M., Raychaudhuri, Soumya, Groop, Leif, Flannick, Jason, Hirschhorn, Joel N., Katsanis, Nicholas, Daly, Mark J.
Publicado en Am J Hum Genet (2014)

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

por Ulmer Carnes, Megan, Liu, Yangfan P., Allingham, R. Rand, Whigham, Benjamin T., Havens, Shane, Garrett, Melanie E., Qiao, Chunyan, Katsanis, Nicholas, Wiggs, Janey L., Pasquale, Louis R., Ashley-Koch, Allison, Oh, Edwin C., Hauser, Michael A.
Publicado 2014

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

por Frosk, Patrick, Arts, Heleen H, Philippe, Julien, Gunn, Carter S, Brown, Emma L, Chodirker, Bernard, Simard, Louise, Majewski, Jacek, Fahiminiya, Somayyeh, Russell, Chad, Liu, Yangfan P, Hegele, Robert, Katsanis, Nicholas, Goerz, Conrad, Del Bigio, Marc R, Davis, Erica E
Publicado en J Med Genet (2017)

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

por Nishiguchi, Koji M., Tearle, Richard G., Liu, Yangfan P., Oh, Edwin C., Miyake, Noriko, Benaglio, Paola, Harper, Shyana, Koskiniemi-Kuendig, Hanna, Venturini, Giulia, Sharon, Dror, Koenekoop, Robert K., Nakamura, Makoto, Kondo, Mineo, Ueno, Shinji, Yasuma, Tetsuhiro R., Beckmann, Jacques S., Ikegawa, Shiro, Matsumoto, Naomichi, Terasaki, Hiroko, Berson, Eliot L., Katsanis, Nicholas, Rivolta, Carlo
Publicado 2013

Loss of delta catenin function in severe autism

por Turner, Tychele N., Sharma, Kamal, Oh, Edwin C., Liu, Yangfan P., Collins, Ryan L., Sosa, Maria X., Auer, Dallas R., Brand, Harrison, Sanders, Stephan J., Moreno-De-Luca, Daniel, Pihur, Vasyl, Plona, Teri, Pike, Kristen, Soppet, Daniel R., Smith, Michael W., Cheung, Sau Wai, Martin, Christa Lese, State, Matthew W., Talkowski, Michael E., Cook, Edwin, Huganir, Richard, Katsanis, Nicholas, Chakravarti, Aravinda
Publicado en Nature (2015)