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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
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
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