Uner Tan syndrome caused by a homozygous TUBB mutation affecting microtubule stability
M. Breuss, T. Nguyen, A. Srivatsan, I. Leca, G. Tian, T. Fritz, A.H. Hansen, D. Musaev, J. Mcevoy Venneri, J. Kiely, R. Rosti, E. Scott, U. Tan, R. Kolodner, N. Cowan, D. Keays, J. Gleeson, Human Molecular Genetics 26 (2017) 258–269.

Impact of selection, mutation rate and genetic drift on human genetic variation
S. Sunyaev, F. Kondrashov, P. Bork, V. Ramensky, Human Molecular Genetics 12 (2003) 3325–3330.

Origin of alternative splicing by tandem exon duplication
F. Kondrashov, E. Koonin, Human Molecular Genetics 10 (2001) 2661–2669.