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Cif, L. and Demailly, D. and Lin, J.-P. and Barwick, K.E. and Sa, M. and Abela, L. and Malhotra, S. and Chong, W.K. and Steel, D. and Sanchis-Juan, A. and Ngoh, A. and Trump, N. and Meyer, E. and Vasques, X. and Rankin, J. and Allain, M.W. and Applegate, C.D. and Attaripour Isfahani, S. and Baleine, J. and Balint, B. and Bassetti, J.A. and Baple, E.L. and Bhatia, K.P. and Blanchet, C. and Burglen, L. and Cambonie, G. and Seng, E.C. and Bastaraud, S.C. and Cyprien, F. and Coubes, C. and d’Hardemare, V. and Doja, A. and Dorison, N. and Doummar, D. and Dy-Hollins, M.E. and Farrelly, E. and Fitzpatrick, D.R. and Fearon, C. and Fieg, E.L. and Fogel, B.L. and Forman, E.B. and Fox, R.G. and Gahl, W.A. and Galosi, S. and Gonzalez, V. and Graves, T.D. and Gregory, A. and Hallett, M. and Hasegawa, H. and Hayflick, S.J. and Hamosh, A. and Hully, M. and Jansen, S. and Jeong, S.Y. and Krier, J.B. and Krystal, S. and Kumar, K.R. and Laurencin, C. and Lee, H. and Lesca, G. and François, L.L. and Lynch, T. and Mahant, N. and Martinez-Agosto, J.A. and Milesi, C. and Mills, K.A. and Mondain, M. and Morales-Briceno, H. and Ostergaard, J.R and Pal, S. and Pallais, J.C. and Pavillard, F. and Perrigault, P.-F. and Petersen, A.K. and Polo, G. and Poulen, G. and Rinne, T. and Roujeau, T. and Rogers, C. and Roubertie, A. and Sahagian, M. and Schaefer, E. and Selim, L. and Selway, R. and Sharma, N. and Signer, R. and Soldatos, A.G. and Stevenson, D.A. and Stewart, F. and Tchan, M. and Verma, I.C. and de Vries, B.B.A and Wilson, J.L. and Wong, D.A. and Zaitoun, R. and Zhen, D. and Znaczko, A. and Dale, R.C. and de Gusmão, C.M. and Friedman, J. and Fung, V.S.C. and King, M.D. and Mohammad, S.S and Rohena, L. and Waugh, J.L. and Toro, C. and Raymond, F.L. and Topf, Maya and Coubes, P. and Gorman, K.M. and Kurian, M.A. (2020) KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143 (11), pp. 3242-3261. ISSN 0006-8950.

McTague, A. and Nair, U. and Malhotra, S. and Meyer, E. and Trump, N. and Gazina, E.V. and Papandreou, A. and Ngoh, A. and Ackermann, S. and Ambegaonkar, G. and Appleton, R. and Desurkar, A. and Eltze, C. and Kneen, R. and Kumar, A.V. and Lascelles, K. and Montgomery, T. and Ramesh, V. and Samanta, R. and Scott, R.H. and Tan, J. and Whitehouse, W. and Poduri, A. and Scheffer, I.E. and Chong, W.K. and Cross, J.H. and Topf, Maya and Petrou, S. and Kurian, M.A. (2018) Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy. Neurology 90 (1), ISSN 0028-3878.

McTague, A. and Nair, U. and Malhotra, S. and Meyer, E. and Trump, N. and Gazina, E.V. and Papandreou, A. and Ngoh, A. and Ackermann, S. and Ambegaonkar, G. and Appleton, R. and Desurkar, A. and Eltze, C. and Kneen, R. and Kumar, A.V. and Lascelles, K. and Montgomery, T. and Ramesh, V. and Samanta, R. and Scott, R.H. and Tan, J. and Whitehouse, W. and Poduri, A. and Scheffer, I.E. and Chong, W.K. "Kling" and Cross, H.K. and Topf, Maya and Petrou, S. and Kurian, M.A. (2017) Clinical and molecular characterisation of KCNT1-related severe early onset epilepsy. Neurology 90 (1), ISSN 0028-3878.

Schaefer, N. and Berger, A. and van Brederode, J. and Zheng, F. and Zhang, Y. and Leacock, S. and Littau, L. and Jablonka, S. and Malhotra, S. and Topf, Maya and Winter, F. and Davydova, D. and Lynch, J.W. and Paige, C.J. and Alzheimer, C. and Harvey, R.J. and Villmann, C. (2017) Disruption of a structurally important extracellular element in the Glycine Receptor leads to decreased synaptic integration and signaling resulting in Severe Startle Disease. The Journal of Neuroscience 37 (33), pp. 7948-7961. ISSN 0270-6474.

Joseph, Agnel Praveen and Malhotra, S. and Burnley, T. and Wood, C. and Clare, D.K. and Winn, M. and Topf, Maya (2016) Refinement of atomic models in high resolution EM reconstructions using Flex-EM and local assessment. Methods 100 , pp. 42-49. ISSN 1046-2023.