• 34 Citations
  • 3 Scopus h-Index
20172019
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Fingerprint Dive into the research topics where Filippo Pinto e Vairo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Precision Medicine Medicine & Life Sciences
Alexander Disease Medicine & Life Sciences
Maple Syrup Urine Disease Medicine & Life Sciences
Multiple Hereditary Exostoses Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Telomere Medicine & Life Sciences
Transforming Growth Factors Medicine & Life Sciences

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Research Output 2017 2019

  • 34 Citations
  • 3 Scopus h-Index
  • 5 Article
  • 2 Letter
  • 1 Editorial
  • 1 Review article

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias

Mangaonkar, A. A., Ferrer, A., Pinto e Vairo, F., Cousin, M. A., Kuisle, R. J., Gangat, N., Hogan, W. J., Litzow, M. R., McAllister, T. M., Klee, E. W., Lazaridis, K. N., Stewart, A. K. & Patnaik, M. M., Jan 1 2019, In : Mayo Clinic proceedings.

Research output: Contribution to journalArticle

Precision Medicine
Exome
Poisons
Hematopoietic Stem Cell Transplantation
Cell Lineage
1 Citation (Scopus)

Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines

Starosta, R. T., Pinto e Vairo, F., Dornelles, A. D., Cerski, C. T. S., Álvares-da-Silva, M. R. & Schwartz, I. V. D., Feb 1 2019, In : Blood Cells, Molecules, and Diseases. 74, p. 34-36 3 p.

Research output: Contribution to journalLetter

Gaucher Disease
Hepatocellular Carcinoma
Guidelines
3 Citations (Scopus)

Individualized medicine comes to the liver clinic

Pinto e Vairo, F. & Lazaridis, K. N., Jun 1 2019, In : Journal of hepatology. 70, 6, p. 1057-1059 3 p.

Research output: Contribution to journalEditorial

Precision Medicine
Liver

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Undiagnosed Diseases Network, Jan 1 2019, (Accepted/In press) In : Biological psychiatry.

Research output: Contribution to journalArticle

Transforming Growth Factors
Virulence
Phenotype
Joint Instability
Haploinsufficiency
1 Citation (Scopus)

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

Oliver, G. R., Blackburn, P. R., Ellingson, M. S., Conboy, E., Pinto e Vairo, F., Webley, M., Thorland, E. C., Ferber, M., Van Hul, E., van der Werf, I. M., Wuyts, W., Babovic-Vuksanovic, D. & Klee, E. W., Mar 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e00560.

Research output: Contribution to journalArticle

Open Access
Multiple Hereditary Exostoses
RNA
Comparative Genomic Hybridization
Exome
Multiplex Polymerase Chain Reaction