Additional file 2 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

  • Ilaria Mannucci (Creator)
  • Nghi D.P. Dang (Creator)
  • Hannes Huber (Creator)
  • Jaclyn B. Murry (Creator)
  • Jeff Abramson (Creator)
  • Thorsten Althoff (Creator)
  • Siddharth Banka (Creator)
  • Gareth Baynam (Creator)
  • David Bearden (Creator)
  • Ana Beleza-Meireles (Creator)
  • Paul J. Benke (Creator)
  • Siren Berland (Creator)
  • Tatjana Bierhals (Creator)
  • Frédéric Bilan (Creator)
  • Laurence A. Bindoff (Creator)
  • Geir Julius Braathen (Creator)
  • Øyvind L. Busk (Creator)
  • Jirat Chenbhanich (Creator)
  • Jonas Denecke (Creator)
  • Luis F. Escobar (Creator)
  • Caroline Estes (Creator)
  • Peter Pickkers (Creator)
  • Daniel Groepper (Creator)
  • Charlotte A. Haaxma (Creator)
  • Maja Hempel (Creator)
  • Yolanda Faye Holler-Managan (Creator)
  • Gunnar Houge (Creator)
  • Adam Jackson (Creator)
  • Laura Kellogg (Creator)
  • Richard A. Flavell (Creator)
  • Catherine Kiraly-Borri (Creator)
  • Cornelia Kraus (Creator)
  • Christian Kubisch (Creator)
  • Gwenael Le Guyader (Creator)
  • Ulf W. Ljungblad (Creator)
  • Richard A. Flavell (Creator)
  • Julian A. Martinez-Agosto (Creator)
  • Matthew Might (Creator)
  • David T. Miller (Creator)
  • Kelly Q. Minks (Creator)
  • Billur Moghaddam (Creator)
  • Caroline Nava (Creator)
  • Stan F. Nelson (Creator)
  • John M. Parant (Creator)
  • T. E. Prescott (Creator)
  • Farrah Rajabi (Creator)
  • Hanitra Randrianaivo (Creator)
  • Simone F. Reiter (Creator)
  • Janneke Schuurs-Hoeijmakers (Creator)
  • Perry B. Shieh (Creator)
  • Anne M. Slavotinek (Creator)
  • Sarah Smithson (Creator)
  • A. P.A. Stegmann (Creator)
  • Kinga Tomczak (Creator)
  • Kristian Tveten (Creator)
  • Jun Wang (Creator)
  • Jordan H. Whitlock (Creator)
  • Christiane Zweier (Creator)
  • Kirsty McWalter (Creator)
  • Jane Juusola (Creator)
  • Fabiola Quintero-Rivera (Creator)
  • Utz Fischer (Creator)
  • Nan Cher Yeo (Creator)
  • Hans Jürgen Kreienkamp (Creator)
  • Davor Lessel (Creator)

Dataset

Description

Additional file 2: Table S1. Summary on clinical features of individuals bearing pathogenic DHX30 variants.
Date made available2021
Publisherfigshare

Access Dataset

  • Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

    Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, Ø. L., Chenbhanich, J., Denecke, J. & Escobar, L. F. & 45 others, Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Smithson, S., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H. J. & Lessel, D., Dec 2021, In: Genome Medicine. 13, 1, 90.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    17 Scopus citations

Cite this