@article{AlstonComptonFormosaetal.2017,
  author    = {Charlotte Alston and Alison G. Compton and Luke E. Formosa and Valentina Strecker and Monika Ol{\´a}hov{\´a} and Tobias Haack and Jo{\´e}l Smet and Katrien Stouffs and Peter Diakumis and Elżbieta Ciara and David Cassiman and Nadine Romain and John W. Yarham and Langping He and Boel De Paepe and Arnaud V. Vanlander and Sara Seneca and Ren{\´e} G. Feichtinger and Rafał Płoski and Dariusz Rokicki and Ewa Pronicka and Ronald G. Haller and Johan L. K. van Hove and Melanie Bahlo and Johannes A. Mayr and Rudy van Coster and Holger Prokisch and Ilka Wittig and Michael T. Ryan and David R. Thorburn and Robert W. Taylor},
  title     = {Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype},
  journal   = {American journal of human genetics},
  volume    = {99},
  number    = {1},
  pages     = {217 -- 227},
  doi       = {10.1016/j.ajhg.2016.05.021},
  year      = {2017},
}