Michelle Buscarilli

Most-cited papers

1. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

   G. Yamamoto, Meire Aguena, M. Gos, C. Hung +15 more

   2015Journal of Medical Genetics226 citations Open access

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2. Further evidence of the importance of RIT1 in Noonan syndrome

   D. Bertola, G. Yamamoto, T. Almeida, Michelle Buscarilli +6 more

   2014American Journal of Medical Genetics. Part A61 citations

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3. Genotype and phenotype spectrum of NRAS germline variants

   Franziska Altmüller, Christina Lissewski, D. Bertola, E. Flex +22 more

   2017European Journal of Human Genetics44 citations Open access

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4. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype

   D. Bertola, G. Yamamoto, Michelle Buscarilli, A. Jorge +2 more

   2017American Journal of Medical Genetics. Part A33 citations

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5. Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp

   D. Bertola, Michelle Buscarilli, D. Stabley, L. Baker +4 more

   2017American Journal of Medical Genetics. Part A25 citations Open access

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