• 0 Citations
  • 0 h-Index
20182019
If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Simona Coppola is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Noonan Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Hypertrophic Cardiomyopathy Medicine & Life Sciences
GTP Phosphohydrolases Medicine & Life Sciences
Exome Medicine & Life Sciences
Monomeric GTP-Binding Proteins Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2018 2019

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Motta, M., Sagi-Dain, L., Krumbach, O. H. F., Hahn, A., Peleg, A., German, A., Lissewski, C., Coppola, S., Pantaleoni, F., Kocherscheid, L., Altmüller, F., Schanze, D., Logeswaran, T., Chahrokh-Zadeh, S., Munzig, A., Nakhaei-Rad, S., Cavé, H., Ahmadian, M. R., Tartaglia, M. & Zenker, M., May 21 2019, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Noonan Syndrome
Hypertrophic Cardiomyopathy
Mutation
Phosphatidylinositol 3-Kinases
Codon

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

Motta, M., Fidan, M., Bellacchio, E., Pantaleoni, F., Schneider-Heieck, K., Coppola, S., Borck, G., Salviati, L., Zenker, M., Cirstea, I. C. & Tartaglia, M., Nov 27 2018, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Noonan Syndrome
Mutation
Ubiquitination
Proteins
Genes

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

University of Washington Center for Mendelian Genomics, Feb 1 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Noonan Syndrome
Exome
Monomeric GTP-Binding Proteins

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Martinelli, S., Krumbach, O. H. F., Pantaleoni, F., Coppola, S., Amin, E., Pannone, L., Nouri, K., Farina, L., Dvorsky, R., Lepri, F., Buchholzer, M., Konopatzki, R., Walsh, L., Payne, K., Pierpont, M. E., Vergano, S. S., Langley, K. G., Larsen, D., Farwell, K. D., Tang, S. & 29 others, Mroske, C., Gallotta, I., Di Schiavi, E., della Monica, M., Lugli, L., Rossi, C., Seri, M., Cocchi, G., Henderson, L., Baskin, B., Alders, M., Mendoza-Londono, R., Dupuis, L., Nickerson, D. A., Chong, J. X., Meeks, N., Brown, K., Causey, T., Cho, M. T., Demuth, S., Digilio, M. C., Gelb, B. D., Bamshad, M. J., Zenker, M., Ahmadian, M. R., Hennekam, R. C., Tartaglia, M., Mirzaa, G. M. & Genomics, T. U. O. W. C. F. M., 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Noonan Syndrome
Exome
Monomeric GTP-Binding Proteins