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2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.Migliavacca, E., Golzio C., Männik K., Blumenthal I., Oh EC, Harewood L., Kosmicki JA, Loviglio MN, Giannuzzi G., Hippolyte L., Maillard AM, Alfaiz AA, 16p11.2 European Consortium, van Haelst MM, Andrieux J., Gusella JF, Daly M. J., Beckmann JS, Jacquemont S., Talkowski ME, et al. American journal of human genetics, 2015/05/07, Volume 96, Issue 5, p.784-96, (2015) Read More / View Supplemental Materials
Abstract
2014
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity.Lim, ET, Liu YP, Chan Y., Tiinamaija T., Käräjämäki A., Madsen E., Go-T2D Consortium, Altshuler DM, Raychaudhuri S., Groop L., Flannick J., Hirschhorn JN, Katsanis N., and Daly M. J. American journal of human genetics, 2014/11/06, Volume 95, Issue 5, p.509-20, (2014) Read More / View Supplemental Materials
Abstract
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.Sugathan, A., Biagioli M., Golzio C., Erdin S., Blumenthal I., Manavalan P., Ragavendran A., Brand H., Lucente D., Miles J., Sheridan SD, Stortchevoi A., Kellis M., Haggarty SJ, Katsanis N., Gusella JF, and Talkowski ME Proceedings of the National Academy of Sciences of the United States of America, 2014/10/21, Volume 111, Issue 42, p.E4468-77, (2014) Read More / View Supplemental Materials
Abstract
2013
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.Dauber, A., Golzio C., Guenot C., Jodelka FM, Kibaek M., Kjaergaard S., Leheup B., Martinet D., Nowaczyk MJ, Rosenfeld JA, Zeesman S., Zunich J., Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S., and Katsanis N. American journal of human genetics, 2013/11/07, Volume 93, Issue 5, p.798-811, (2013) Read More / View Supplemental Materials
Abstract
2011
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.Raychaudhuri, S., Iartchouk O., Chin K., Tan PL, Tai AK, Ripke S., Gowrisankar S., Vemuri S., Montgomery K., Yu Y., Reynolds R., Zack DJ, Campochiaro B., Campochiaro P., Katsanis N., Daly M. J., and Seddon JM Nature genetics, 2011/10/23, Volume 43, Issue 12, p.1232-6, (2011) Read More / View Supplemental Materials
Abstract
  • Showing 1-5 of 5 Results