Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
Katsanis, Nicholas, Kulaga, Heather M, Leitch, Carmen C, Eichers, Erica R, Badano, Jose L, Lesemann, Alysa, Hoskins, Bethan E, Lupski, James R, Beales, Philip L, Reed, Randall R
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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Journal Article
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
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
Published in Nature genetics (01.10.2005)
Published in Nature genetics (01.10.2005)
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Journal Article
Inhibition of Neural Crest Migration Underlies Craniofacial Dysmorphology and Hirschsprung's Disease in Bardet-Biedl Syndrome
Tobin, Jonathan L., Di Franco, Matt, Eichers, Erica, May-Simera, Helen, Garcia, Monica, Yan, Jiong, Quinlan, Robyn, Justice, Monica J., Hennekam, Raoul C., Briscoe, James, Tada, Masazumi, Mayor, Roberto, Burns, Alan J., Lupski, James R., Hammond, Peter, Beales, Philip L.
Published in Proceedings of the National Academy of Sciences - PNAS (06.05.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (06.05.2008)
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Journal Article
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Katsanis, Nicholas, Ansley, Stephen J., Badano, Jose L., Eichers, Erica R., Lewis, Richard Alan, Hoskins, Bethan E., Scambler, Peter J., Davidson, William S., Beales, Philip L., Lupski, James R.
Published in Science (American Association for the Advancement of Science) (21.09.2001)
Published in Science (American Association for the Advancement of Science) (21.09.2001)
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Journal Article
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome
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.
Published in Vision research (Oxford) (01.12.2007)
Published in Vision research (Oxford) (01.12.2007)
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Journal Article
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
EICHERS, Erica R, ABD-EL-BARR, Muhammad M, JUSTICE, Monica J, BEALES, Philip L, KATSANIS, Nicholas, LUPSKI, James R, PAYLOR, Richard, LEWIS, Richard Alan, WEIMIN BI, XIAODI LIN, MEEHAN, Thomas P, STOCKTON, David W, WU, Samuel M, LINDSAY, Elizabeth
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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Journal Article
Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1
Eichers, Erica R., Green, Jane S., Stockton, David W., Jackman, Christopher S., Whelan, James, McNamara, J. Arch, Johnson, Gordon J., Lupski, James R., Katsanis, Nicholas
Published in American journal of human genetics (01.04.2002)
Published in American journal of human genetics (01.04.2002)
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Journal Article
BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance
Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Journal Article
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
Katsanis, Nicholas, Ansley, Stephen J, Badano, Jose L, Blacque, Oliver E, Hill, Josephine, Hoskins, Bethan E, Leitch, Carmen C, Chul Kim, Jun, Ross, Alison J, Eichers, Erica R, Teslovich, Tanya M, Mah, Allan K, Johnsen, Robert C, Cavender, John C, Alan Lewis, Richard, Leroux, Michel R, Beales, Philip L
Published in Nature (09.10.2003)
Published in Nature (09.10.2003)
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Journal Article
Basal body dysfunction is a likely cause of plelotropic Bardet-Biedl syndrome
ANSLEY, Stephen J, BADANO, Jose L, MAH, Allan K, JOHNSEN, Robert C, CAVENDER, John C, LEWIS, Richard Alan, LEROUX, Michel R, BEALES, Philip L, KATSANIS, Nicholas, BLACQUE, Oliver E, HILL, Josephine, HOSKINS, Bethan E, LEITCH, Carmen C, JUN CHUL KIM, ROSS, Alison J, EICHERS, Erica R, TESLOVICH, Tanya M
Published in Nature (London) (2003)
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Published in Nature (London) (2003)
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