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AMD and the alternative complement pathway: genetics and functional implications.
Published in:
Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0079-x
By:
- Tan, Perciliz L.;
- Bowes Rickman, Catherine;
- Katsanis, Nicholas
Publication type:
Article
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1366, doi. 10.1038/ng.2741
By:
- 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
Publication type:
Article
A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
Published in:
Nature Genetics, 2013, v. 45, n. 7, p. 813, doi. 10.1038/ng.2640
By:
- van de Ven, Johannes P H;
- Nilsson, Sara C;
- Tan, Perciliz L;
- Buitendijk, Gabriëlle H S;
- Ristau, Tina;
- Mohlin, Frida C;
- Nabuurs, Sander B;
- Schoenmaker-Koller, Frederieke E;
- Smailhodzic, Dzenita;
- Campochiaro, Peter A;
- Zack, Donald J;
- Duvvari, Maheswara R;
- Bakker, Bjorn;
- Paun, Codrut C;
- Boon, Camiel J F;
- Uitterlinden, Andre G;
- Liakopoulos, Sandra;
- Klevering, B Jeroen;
- Fauser, Sascha;
- Daha, Mohamed R
Publication type:
Article
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Published in:
Nature Genetics, 2011, v. 43, n. 12, p. 1232, doi. 10.1038/ng.976
By:
- Raychaudhuri, Soumya;
- 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;
- Seddon, Johanna M
Publication type:
Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Published in:
Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
By:
- Khanna, Hemant;
- Davis, Erica E.;
- Murga-Zamalloa, Carlos A.;
- Estrada-Cuzcano, 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.
Publication type:
Article
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Published in:
Nature Genetics, 2005, v. 37, n. 10, p. 1135, doi. 10.1038/ng1644
By:
- Ross, Alison J.;
- May-Simera, Helen;
- Eichers, Erica R.;
- Kai, Masatake;
- Hill, Josephine;
- Jagger, Daniel J.;
- Leitch, Carmen C.;
- Chapple, J. Paul;
- Munro, Peter M.;
- Fisher, Shannon;
- Tan, Perciliz L.;
- Phillips, Helen M.;
- Leroux, Michel R.;
- Henderson, Deborah J.;
- Murdoch, Jennifer N.;
- Copp, Andrew J.;
- Eliot, Marie-Madeleine;
- Lupski, James R.;
- Kemp, David T.;
- Dollfus, Hélène
Publication type:
Article
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 18, p. 3699, doi. 10.1093/hmg/ddr270
By:
- Yu, Yi;
- Bhangale, Tushar R.;
- Fagerness, Jesen;
- Ripke, Stephan;
- Thorleifsson, Gudmar;
- Tan, Perciliz L.;
- Souied, Eric H.;
- Richardson, Andrea J.;
- Merriam, Joanna E.;
- Buitendijk, Gabriëlle H.S.;
- Reynolds, Robyn;
- Raychaudhuri, Soumya;
- Chin, Kimberly A.;
- Sobrin, Lucia;
- Evangelou, Evangelos;
- Lee, Phil H.;
- Lee, Aaron Y.;
- Leveziel, Nicolas;
- Zack, Donald J.;
- Campochiaro, Betsy
Publication type:
Article
Thermosensory and mechanosensory perception in human genetic disease.
Published in:
Human Molecular Genetics, 2009, v. 18, n. R2, p. R146, doi. 10.1093/hmg/ddp412
By:
- Tan, Perciliz L.;
- Katsanis, Nicholas
Publication type:
Article
Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup’ik Eskimo Populations.
Published in:
Human Heredity, 2009, v. 67, n. 3, p. 193, doi. 10.1159/000181158
By:
- 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.
Publication type:
Article

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