HEATR2 plays a conserved role in assembly of the ciliary motile apparatus
Diggle, Christine P, Moore, Daniel J, Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, von Kriegsheim, Alex, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine
Published in PLoS genetics (01.09.2014)
Published in PLoS genetics (01.09.2014)
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Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function
Davies, Faith C J, Hope, Jilly E, McLachlan, Fiona, Marshall, Grant F, Kaminioti-Dumont, Laura, Qarkaxhija, Vesa, Nunez, Francis, Dando, Owen, Smith, Colin, Wood, Emma, MacDonald, Josephine, Hardt, Oliver, Abbott, Catherine M
Published in Human molecular genetics (27.06.2020)
Published in Human molecular genetics (27.06.2020)
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Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice
Davies, Faith C. J., Hope, Jilly E., McLachlan, Fiona, Nunez, Francis, Doig, Jennifer, Bengani, Hemant, Smith, Colin, Abbott, Catherine M.
Published in Scientific reports (05.04.2017)
Published in Scientific reports (05.04.2017)
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HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus: e1004577
Diggle, Christine P, Moore, Daniel J, Mali, Girish, Lage, Petra zur, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Munoz, Amaya Garcia, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, Kriegsheim, Alex von, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine
Published in PLoS genetics (01.09.2014)
Published in PLoS genetics (01.09.2014)
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