• 478 Citations
  • 14 h-Index
19962019
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Fingerprint Dive into the research topics where Rossella Capolino is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 18 Similar Profiles
Congenital Heart Defects Medicine & Life Sciences
Mutation Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
DiGeorge Syndrome Medicine & Life Sciences
Down Syndrome Medicine & Life Sciences
Microcephaly Medicine & Life Sciences

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Research Output 1996 2019

  • 478 Citations
  • 14 h-Index
  • 50 Article
  • 1 Chapter
Intellectual Disability
Siblings
Genes
Chromosome Duplication
Splenomegaly

Pathogenic Variants in GPC4 Cause Keipert Syndrome

Amor, D. J., Stephenson, S. E. M., Mustapha, M., Mensah, M. A., Ockeloen, C. W., Lee, W. S., Tankard, R. M., Phelan, D. G., Shinawi, M., de Brouwer, A. P. M., Pfundt, R., Dowling, C., Toler, T. L., Sutton, V. R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M. & 10 others, Reardon, W., Shaw-Smith, C., Leventer, R. J., Delatycki, M. B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N. J. & Lockhart, P. J., Apr 5 2019, In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Glypicans
Mouth Abnormalities
Craniofacial Abnormalities
Developmental Bone Disease
Hypertelorism

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
Mutation
RNA Stability
Gene Expression Regulation
Missense Mutation
Skin
Burkitt Lymphoma
Mutation
Neoplasms
Modifier Genes
Genes