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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ... The American Journal of Human Genetics 89 (6), 713-730, 2011 | 236 | 2011 |
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Katanin p80 regulates human cortical development by limiting centriole and cilia number WF Hu, O Pomp, T Ben-Omran, A Kodani, K Henke, GH Mochida, ... Neuron 84 (6), 1240-1257, 2014 | 119 | 2014 |
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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma E Pohler, O Mamai, J Hirst, M Zamiri, H Horn, T Nomura, AD Irvine, ... Nature genetics 44 (11), 1272-1276, 2012 | 105 | 2012 |
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Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6 J Trott, Y Alpagu, EK Tan, M Shboul, Y Dawood, M Elsy, H Wollmann, ... Development 147 (21), dev194878, 2020 | 26 | 2020 |