@article{haack2012-23176820,
  author  = {Haack, T. B. and Hogarth, P. and Kruer, M. C. and Gregory, A. and Wieland, T. and Schwarzmayr, T. and Graf, E. and Sanford, L. and others},
  title   = {{Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA}},
  journal = {American journal of human genetics},
  year    = {2012},
  doi     = {10.1016/j.ajhg.2012.10.019},
  pmid    = {23176820},
  url     = {https://doi.org/10.1016/j.ajhg.2012.10.019}
}