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

Girisha, K.M. and Kortüm, F. and Shah, H. and Alawi, M. and Dalal, Ashwin and Bhavani, G.S. and Kutsche, K. (2016) A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European Journal of Human Genetics, 24 (8). pp. 1206-1210. ISSN 1018-4813