Dave Pagliarini

Research output

Research output per year 2003 2013 2014 2016 2017 2018 2019 2020 2021 2023

• 65 Article
• 4 Review article
• 2 Chapter
• 2 Comment/debate
• 1 More
  • 1 Short survey

Research output per year

Research output per year

Search results

• 2021

  Erratum: Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (The American Journal of Human Genetics (2021) 108(7) (1301–1317), (S0002929721001877), (10.1016/j.ajhg.2021.05.003))

  Wong, H. H., Seet, S. H., Maier, M., Gurel, A., Traspas, R. M., Lee, C., Zhang, S., Talim, B., Loh, A. Y. T., Chia, C. Y., Teoh, T. S., Sng, D., Rensvold, J., Unal, S., Shishkova, E., Cepni, E., Nathan, F. M., Sirota, F. L., Liang, C., Yarali, N., & 52 othersSimsek-Kiper, P. O., Mitani, T., Ceylaner, S., Arman-Bilir, O., Mbarek, H., Gumruk, F., Efthymiou, S., Çïmen, D. U., Georgiadou, D., Sotiropoulou, K., Houlden, H., Paul, F., Pehlivan, D., Lainé, C., Chai, G., Ali, N. A., Choo, S. C., Keng, S. S., Boisson, B., Yılmaz, E., Xue, S., Coon, J. J., Nguyen Ly, T. T., Gilani, N., Hasbini, D., Kayserili, H., Zaki, M. S., Isfort, R. J., Ordonez, N., Tripolszki, K., Bauer, P., Rezaei, N., Seyedpour, S., Khotaei, G. T., Bascom, C. C., Maroofian, R., Chaabouni, M., Alsubhi, A., Eyaid, W., Işıkay, S., Gleeson, J. G., Lupski, J. R., Casanova, J. L., Pagliarini, D. J., Akarsu, N. A., Maurer-Stroh, S., Cetinkaya, A., Bertoli-Avella, A., Mathuru, A. S., Ho, L., Bard, F. A. & Reversade, B., Jul 1 2021, In: American journal of human genetics. 108, 7, p. 1356 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Human Genetics 100%
  • Glycogen 85%
  • Zebrafish 83%
  • Emotions 64%
• 2019

  ADCK3/COQ8A: the choice target of the UbiB protein kinase-like family

  Asquith, C. R. M., Murray, N. H. & Pagliarini, D. J., Oct 1 2019, In: Nature Reviews Drug Discovery. 18, 11, p. 815 1 p.

  Research output: Contribution to journal › Comment/debate
  7 Scopus citations