• 36 Citations
  • 3 Scopus h-Index
20172019
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Research Output 2017 2019

  • 36 Citations
  • 3 Scopus h-Index
  • 5 Article
  • 2 Letter
  • 1 Editorial
  • 1 Review article
2019

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
2 Citations (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
2018
6 Citations (Scopus)

Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes

Mangaonkar, A. A., Ferrer, A., Pinto e Vairo, F., Cousin, M. A., Kuisle, R. J., Klee, E. W., Kennedy, C., Peters, S. G., Scott, J. P., Utz, J. P., Baqir, M., Sekiguchi, H., Khan, S. P., Rodriguez, V., Simonetto, D., Kamath, P. S., Abraham, R. S., Wylam, M. & Patnaik, M. M., Jul 1 2018, In : Mayo Clinic Proceedings. 93, 7, p. 834-839 6 p.

Research output: Contribution to journalArticle

Telomere
Idiopathic Interstitial Pneumonias
Danazol
Transplants
Phenotype
Alexander Disease
2017
4 Citations (Scopus)

Genetic profile of Brazilian patients with dystrophinopathies

de Almeida, P. A. D., Machado-Costa, M. C., Manzoli, G. N., Ferreira, L. S., Rodrigues, M. C. S., Bueno, L. S. M., Saute, J. A. M., Pinto e Vairo, F., Matte, U. S., Siebert, M., Cossio, S. L., Macedo, G. S., Winckler, P. B., Becker, M. M., Magalhães, L. V. B., Gonçalves, M. V. M., Marrone, C. D., Nucci, A. & França, M. C., Aug 1 2017, In : Clinical Genetics. 92, 2, p. 199-203 5 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Nonsense Codon
Brazil
Mutation
Multiplex Polymerase Chain Reaction
20 Citations (Scopus)

Maple syrup urine disease: Mechanisms and management

Blackburn, P. R., Gass, J. M., Pinto e Vairo, F., Farnham, K. M., Atwal, H. K., Macklin, S., Klee, E. W. & Atwal, P. S., Sep 6 2017, In : Application of Clinical Genetics. 10, p. 57-66 10 p.

Research output: Contribution to journalReview article

Maple Syrup Urine Disease
Disease Management
Branched Chain Amino Acids
Cerumen
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)