• 2218 Citations
  • 18 h-Index
20052019
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Fingerprint Dive into the research topics where Francesca Romana Lepri is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 20 Similar Profiles
Noonan Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Congenital Heart Defects Medicine & Life Sciences
Germ-Line Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences
LEOPARD Syndrome Medicine & Life Sciences

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Research Output 2005 2019

  • 2218 Citations
  • 18 h-Index
  • 60 Article
  • 1 Letter

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Capri, Y., Flex, E., Krumbach, O. H. F., Carpentieri, G., Cecchetti, S., Lißewski, C., Rezaei Adariani, S., Schanze, D., Brinkmann, J., Piard, J., Pantaleoni, F., Lepri, F. R., Goh, E. S-Y., Chong, K., Stieglitz, E., Meyer, J., Kuechler, A., Bramswig, N. C., Sacharow, S., Strullu, M. & 13 others, Vial, Y., Vignal, C., Kensah, G., Cuturilo, G., Kazemein Jasemi, N. S., Dvorsky, R., Monaghan, K. G., Vincent, L. M., Cavé, H., Verloes, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1223-1232 10 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Mutation
Genes
Nucleotides
Exome
pituitary hormones
Pituitary Hormones
mutations
Mutation
Hormones

Novel Mutations and Unreported Clinical Features in KBG Syndrome

Scarano, E., Tassone, M., Graziano, C., Gibertoni, D., Tamburrino, F., Perri, A., Gnazzo, M., Severi, G., Lepri, F. & Mazzanti, L., May 2019, In : Molecular Syndromology. 10, 3, p. 130-138 9 p.

Research output: Contribution to journalArticle

Mutation
Joints
KBG syndrome
Exome
Point Mutation

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Pinna, V., Daniele, P., Calcagni, G., Mariniello, L., Criscione, R., Giardina, C., Lepri, F. R., Hozhabri, H., Alberico, A., Cavone, S., Morella, A. T., Mandile, R., Annunziata, F., Di Giosaffatte, N., D'Asdia, M. C., Versacci, P., Capolino, R., Strisciuglio, P., Giustini, S., Melis, D. & 4 others, Digilio, M. C., Tartaglia, M., Marino, B. & De Luca, A., Sep 4 2019, In : Genes. 10, 9

Research output: Contribution to journalArticle

Open Access
Neurofibromatosis 1
Pulmonary Valve Stenosis
Heart Diseases
Mutation
Odds Ratio