• 1920 Citations
  • 22 h-Index
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Fingerprint Dive into the research topics where Ana C.V. Krepischi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Comparative Genomic Hybridization Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Melanoma Medicine & Life Sciences
Germ-Line Mutation Medicine & Life Sciences
Neoplasms Medicine & Life Sciences

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Research Output 1998 2019

  • 1920 Citations
  • 22 h-Index
  • 81 Article
  • 7 Letter
  • 1 Chapter

10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

Oliveira, D., Leal, G. F., Sertié, A. L., Caires, L. C., Goulart, E., Musso, C. M., De Oliveira, J. R. M., Krepischi, A. C. V., Vianna-Morgante, A. M. & Zatz, M., Aug 1 2019, In : Journal of medical genetics. 56, 8, p. 543-547 5 p.

Research output: Contribution to journalArticle

PTEN Phosphohydrolase

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

Samogy-Costa, C. I., Varella-Branco, E., Monfardini, F., Ferraz, H., Fock, R. A., Barbosa, R. H. A., Pessoa, A. L. S., Perez, A. B. A., Lourenço, N., Vibranovski, M., Krepischi, A. C. V., Rosenberg, C. & Passos-Bueno, M. R., Jul 18 2019, In : Journal of neurodevelopmental disorders. 11, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Genetic Association Studies
Intellectual Disability
Muscle Hypotonia
1 Citation (Scopus)

Atypical presentation of a germline APC mutation in a child with supratentorial primitive neuroectodermal tumor

Aguiar, T. F., Barbosa-Teixeira, A. C., Costa, S. S., Ezquina, S., Gimenez, T. M., Novak, E., Cristofani, L. M., Rosenberg, C., Odone Filho, V. & Krepischi, A. C. V., Apr 1 2019, In : Pediatric Blood and Cancer. 66, 4, e27566.

Research output: Contribution to journalLetter

Primitive Neuroectodermal Tumors
Germ-Line Mutation

DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation

Guerra, J. V. S., Oliveira-Santos, J., Oliveira, D. F., Leal, G. F., Oliveira, J. R. M., Costa, S. S., Krepischi, A. C. V., Vianna-Morgante, A. M. & Maschietto, M., Jan 1 2019, (Accepted/In press) In : European Journal of Medical Genetics. 103737.

Research output: Contribution to journalArticle

DNA Fingerprinting
Monozygotic Twins
DNA Methylation
Intellectual Disability
1 Citation (Scopus)

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

de Oliveira, J. F., do Prado, P. F. V., da Costa, S. S., Sforça, M. L., Canateli, C., Ranzani, A. T., Maschietto, M., de Oliveira, P. S. L., Otto, P. A., Klevit, R. E., Krepischi, A. C. V., Rosenberg, C. & Franchini, K. G., Jan 1 2019, In : Nature Chemical Biology. 15, 1, p. 62-70 9 p.

Research output: Contribution to journalArticle

Intellectual Disability
Ubiquitin-Conjugating Enzymes