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Harms, F.L. and Girisha, K.M. and Hardigan, A.A. and Kortüm, F. and Shukla, A. and Alawi, M. and Dalal, Ashwin and Brady, L. and Tarnopolsky, M. and Bird, L.M. and Ceulemans, S. and Bebin, M. and Bowling, K.M. and Hiatt, S.M. and Lose, E.J. and Primiano, M. and Chung, W.K. and Juusola, J. and Akdemir, Z.C. and Bainbridge, M. and Charng, W.L. and Drummond-Borg, M. and Eldomery, M.K. and El-Hattab, A.W. and Saleh, M.A.M. and Bézieau, S. and Cogné, B. and Isidor, B. and Küry, S. and Lupski, J.R. and Myers, R.M. and Cooper, G.M. and Kutsche, K. (2017) Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. The American Journal of Human Genetics, 100 (1). pp. 117-127. ISSN 0002-9297

Tsurusaki, Y. and Okamoto, N. and Ohashi, H. and Mizuno, S. and Matsumoto, N. and Makita, Y. and Fukuda, M. and Isidor, B. and Perrier, J. and Aggarwal, Shagun and Dalal, Ashwin and Al-Kindy, A. and Liebelt, J. and Mowat, D. and Nakashima, M. and Saitsu, H. and Miyake, N. and Matsumoto, N. (2014) Coffin-Siris syndrome is a SWI/SNF complex disorder. Clinical Genetics, 85 (6). pp. 548-554. ISSN 1399-0004

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