Article

Pan, Y.E. and Tibbe, D. and Harms, F.L. and Reißner, C. and Becker, K. and Dingmann, B. and Mirzaa, G. and Kattentidt‐Mouravieva, A.A. and Shoukier, M. and Aggarwal, Shagun and Missler, M. and Kutsche, K. and Kreienkamp, H.J. (2020) Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization. Journal of Neurochemistry. ISSN 0022-3042 (In Press)

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