Ricardo A Maselli, MD

Professor

  • 2580 Citations
  • 32 h-Index
1983 …2019

Research output per year

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Projects

  • Research Output

    • 2580 Citations
    • 32 h-Index
    • 87 Article
    • 2 Letter
    • 1 Editorial
    Open Access
  • 2 Scopus citations

    Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations

    Bissay, V. & Maselli, R. A., Sep 1 2019, In : Journal of clinical neuromuscular disease. 21, 1, p. 30-34 5 p.

    Research output: Contribution to journalArticle

  • A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

    Maselli, R. A., Arredondo, J., Vázquez, J., Chong, J. X., Bamshad, M. J., Nickerson, D. A., Lara, M., Ng, F., Lo, V. L., Pytel, P. & McDonald, C. M., Jan 1 2018, (Accepted/In press) In : Annals of the New York Academy of Sciences.

    Research output: Contribution to journalArticle

  • 3 Scopus citations

    Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A

    Maselli, R. A., Vázquez, J., Schrumpf, L., Arredondo, J., Lara, M., Strober, J. B., Pytel, P., Wollmann, R. L. & Ferns, M. J., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

    Research output: Contribution to journalArticle

  • Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission

    University of Washington Center for Mendelian Genomics, Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2240-2245 6 p.

    Research output: Contribution to journalArticle

  • 13 Scopus citations