@article{AlstonVelingHeidleretal.2019,
  author    = {Charlotte L. Alston and Mike T. Veling and Juliana Heidler and Lucie S. Taylor and Joseph T. Alaimo and Andrew Y. Sung and Langping He and Sila Hopton and Alexander Broomfield and Julija Pavaine and Jullianne Diaz and Eyby Leon and Philipp Wolf and Robert McFarland and Holger Prokisch and Saskia B. Wortmann and Penelope E. Bonnen and Ilka Wittig and David J. Pagliarini and Robert W. Taylor},
  title     = {Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency},
  journal   = {American journal of human genetics : AJHG},
  volume    = {106},
  number    = {1},
  pages     = {92 -- 101},
  doi       = {10.1016/j.ajhg.2019.12.001},
  year      = {2019},
}