Denise Pontes Cavalcanti
Department of Medical Genetics · University of Campinas
https://researchid.co/denisec
@unicamp.br
74Scopus Publications
5101Google Scholar Citations
29Google Scholar h-index
59Google Scholar i10-index
Education
1981 MD degree, School of Medicine, Campina Grande, PB, Federal University of Paraíba, Campina Grande, PB, Brazil 1982-1985 Resident, Department of Genetics, School of Medicine of Ribeirão Preto – University of São Paulo, Ribeirão Preto, SP, Brazil 1986 Master's degree, School of Medicine of Ribeirão Preto – University of São Paulo, Ribeirão Preto, SP, Brazil 1990 PhD degree in Medicine (Medical Genetics Area), University of Campinas, Campinas, SP, Brazil 1990-1991 Postdoctoral Fellow at Università del Sacro Cuore Policlinico A Gemelli, USC, Italy. (CNPq Fellow) 2008-2009 Post-Doc...
Recent Scopus Publications
- Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants
- Building a growing genomic repository for maternal and fetal health through the PING Consortium
- Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients
- Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review
- A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences
Links
- ORCID https://orcid.org/0000-0001-6617-4730
- Google Scholar https://scholar.google.com/citations?user=2nMReooAAAAJ
- Scopus https://www.scopus.com/authid/detail.uri?authorId=6701867677