de novo

  • De novo mtDNA point mutations are common and have a low recurrence risk
    Suzanne C E H Sallevelt, Christine E M de Die-Smulders, Alexandra T M Hendrickx, Debby M E I Hellebrekers, Irenaeus F M de Coo, Charlotte L Alston, Charlotte Knowles, Robert W Taylor, Robert McFarland, Hubert J M Smeets
  • De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
    Esther R Berko, Megan T Cho, Christine Eng, Yunru Shao, David A Sweetser, Jessica Waxler, Nathaniel H Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G Bönnemann, Martin Bialer, Christine Moore, Lynne A Wolfe, Cynthia J Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K Chung