Richard E Lutz, MD

  • 631 Citations
  • 10 h-Index
1989 …2019

Research output per year

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Research Output

  • 631 Citations
  • 10 h-Index
  • 16 Article
  • 2 Chapter
  • 1 Letter
  • 1 Review article

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype

Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R. & Yetman, A. T., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1270-1275 6 p.

Research output: Contribution to journalArticle

  • 5 Scopus citations

    Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

    Pringsheim, M., Mitter, D., Schröder, S., Warthemann, R., Plümacher, K., Kluger, G., Baethmann, M., Bast, T., Braun, S., Büttel, H. M., Conover, E., Courage, C., Datta, A. N., Eger, A., Grebe, T. A., Hasse-Wittmer, A., Heruth, M., Höft, K., Kaindl, A. M., Karch, S. & 20 others, Kautzky, T., Korenke, G. C., Kruse, B., Lutz, R. E., Omran, H., Patzer, S., Philippi, H., Ramsey, K., Rating, T., Rieß, A., Schimmel, M., Westman, R., Zech, F. M., Zirn, B., Ulmke, P. A., Sokpor, G., Tuoc, T., Leha, A., Staudt, M. & Brockmann, K., Apr 2019, In : Annals of Clinical and Translational Neurology. 6, 4, p. 655-668 14 p.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    FOXG1 syndrome: Genotype-phenotype association in 83 patients with FOXG1 variants

    Mitter, D., Pringsheim, M., Kaulisch, M., Plümacher, K. S., Schröder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Büttel, H. M., Cohen, J. S., Conover, E., Courage, C., Eger, A., Fatemi, A., Grebe, T. A., Hauser, N. S., Heinritz, W., Helbig, K. L., Heruth, M. & 21 others, Huhle, D., Höft, K., Karch, S., Kluger, G., Korenke, G. C., Lemke, J. R., Lutz, R. E., Patzer, S., Prehl, I., Hoertnagel, K., Ramsey, K., Rating, T., Rieß, A., Rohena, L., Schimmel, M., Westman, R., Zech, F. M., Zoll, B., Malzahn, D., Zirn, B. & Brockmann, K., Jan 1 2018, In : Genetics in Medicine. 20, 1, p. 98-108 11 p.

    Research output: Contribution to journalArticle

  • 19 Scopus citations

    Capture-based high-coverage NGS: A powerful tool to uncover a wide spectrum of mutation types

    Wang, J., Yu, H., Zhang, V. W., Tian, X., Feng, Y., Wang, G., Gorman, E., Wang, H., Lutz, R. E., Schmitt, E. S., Peacock, S. & Wong, L. J., May 1 2016, In : Genetics in Medicine. 18, 5, p. 513-521 9 p.

    Research output: Contribution to journalArticle

  • 12 Scopus citations

    Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

    Bali, D. S., Goldstein, J. L., Fredrickson, K., Rehder, C., Boney, A., Austin, S., Weinstein, D. A., Lutz, R., Boneh, A. & Kishnani, P. S., Mar 2014, In : Molecular Genetics and Metabolism. 111, 3, p. 309-313 5 p.

    Research output: Contribution to journalArticle

  • 23 Scopus citations