• 453 Citations
  • 12 Scopus h-Index
20112020

Research output per year

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Research Output

2020

Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria

da Silva, F. G. S., e Vairo, F. P., de Souza, C. F. M. & Schwartz, I. V. D., Aug 1 2020, In : Acta Neurologica Belgica. 120, 4, p. 893-899 7 p.

Research output: Contribution to journalArticle

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients

Santiago, K. M., Castro, L. P., Neto, J. P. D., de Nóbrega, A. F., Pinto, C. A. L., Ashton-Prolla, P., Pinto e Vairo, F., de Medeiros, P. F. V., Ribeiro, E. M., Ribeiro, B. F. R., do Valle, F. F., Doriqui, M. J. R., Leite, C. H. B., Rocha, R. M., Moura, L. M. S., Munford, V., Galante, P. A. F., Menck, C. F. M., Rogatto, S. R. & Achatz, M. I., 2020, (Accepted/In press) In : Journal of the European Academy of Dermatology and Venereology.

Research output: Contribution to journalArticle

Isoeletrofocalização da transferrina para investigação das doenças congênitas da glicosilação: análise de dez anos de experiência de um centro brasileiro

Translated title of the contribution: Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian centerMagalhães, A. P. P. S. D., Burin, M. G., Souza, C. F. M. D., de Bitencourt, F. H., Sebastião, F. M., Silva, T. O., Vairo, F. P. E. & Schwartz, I. V. D., Jan 1 2020, (Accepted/In press) In : Jornal de Pediatria.

Research output: Contribution to journalArticle

Open Access

Liver involvement in patients with Gaucher disease types I and III

Starosta, R. T., Vairo, F. P. E., Dornelles, A. D., Basgalupp, S. P., Siebert, M., Pedroso, M. L. A., Cerski, C. T. S., Álvares-da-Silva, M. R. & Schwartz, I. V. D., Mar 2020, In : Molecular Genetics and Metabolism Reports. 22, 100564.

Research output: Contribution to journalArticle

Open Access

Mucopolysaccharidosis type I

Kubaski, F., de Oliveira Poswar, F., Michelin-Tirelli, K., da Silveira Matte, U., Horovitz, D. D., Barth, A. L., Baldo, G., Vairo, F. & Giugliani, R., Jan 1 2020, In : Diagnostics. 10, 3, 161.

Research output: Contribution to journalReview article

Open Access
2019

A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease

Vairo, F. P. E., Chwal, B. C., Perini, S., Ferreira, M. A. P., de Freitas Lopes, A. C. & Saute, J. A. M., Jan 2019, In : Molecular genetics and metabolism. 126, 1, p. 6-13 8 p.

Research output: Contribution to journalReview article

10 Scopus citations

Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

Paskulin, L., Dornelles, A. D., Quevedo, A., Nalin, T., Tirelli, K. M., Vairo, F. & Schwartz, I. V. D., Mar 2019, In : Molecular Genetics and Metabolism Reports. 18, p. 30-31 2 p.

Research output: Contribution to journalLetter

Open Access

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., Sep 2019, In : Mayo Clinic proceedings. 94, 9, p. 1753-1768 16 p.

Research output: Contribution to journalArticle

2 Scopus citations
3 Scopus citations

Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1

Wilke, M. V. M. B., Dornelles, A. D., Schuh, A. S., Vairo, F. P., Basgalupp, S. P., Siebert, M., Nalin, T., Piltcher, O. B. & Schwartz, I. V. D., May 10 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 103.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency

Pinheiro, F. C., Sperb-Ludwig, F., Ligabue-Braun, R., Schüler-Faccini, L., de Souza, C. F. M., Vairo, F. & Schwartz, I. V. D., May 30 2019, In : Gene. 699, p. 102-109 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

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 2019, In : Blood Cells, Molecules, and Diseases. 74, p. 34-36 3 p.

Research output: Contribution to journalLetter

3 Scopus citations

Humoral immune response in adult brazilian patients with mucolipidosis iii gamma

Sperb-Ludwig, F., Alegra, T., Velho, R. V., Ludwig, N., Siebert, M., Jobim, M., Vairo, F. & Schwartz, I. V. D., Jul 1 2019, In : Genetics and Molecular Biology. 42, 3, p. 571-573 3 p.

Research output: Contribution to journalArticle

Open Access

Individualized medicine comes to the liver clinic

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

Research output: Contribution to journalEditorial

3 Scopus citations

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Pant, D. C., Dorboz, I., Schluter, A., Fourcade, S., Launay, N., Joya, J., Aguilera-Albesa, S., Yoldi, M. E., Casasnovas, C., Willis, M. J., Ruiz, M., Ville, D., Lesca, G., Siquier-Pernet, K., Desguerre, I., Yan, H., Wang, J., Burmeister, M., Brady, L., Tarnopolsky, M. & 24 others, Cornet, C., Rubbini, D., Terriente, J., James, K. N., Musaev, D., Zaki, M. S., Patterson, M. C., Lanpher, B. C., Klee, E. W., E Vairo, F. P., Wohler, E., Sobreira, N. L. D. M., Cohen, J. S., Maroofian, R., Galehdari, H., Mazaheri, N., Shariati, G., Colleaux, L., Rodriguez, D., Gleeson, J. G., Pujades, C., Fatemi, A., Boespflug-Tanguy, O. & Pujol, A., Mar 2019, In : Journal of Clinical Investigation. 129, 3, p. 1240-1256 17 p.

Research output: Contribution to journalArticle

Open Access
10 Scopus citations

Lysosomal diseases: Overview on current diagnosis and treatment

Poswar, F., Vairo, F., Burin, M., Michelin-Tirelli, K., Brusius-Facchin, A., Kubaski, F., Desouza, C., Baldo, G. & Giugliani, R., 2019, In : Genetics and Molecular Biology. 42, 1, p. 165-177 13 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

Vairo, F. P. E., Ferrer, A., Cathcart-Rake, E., King, R. L., Howard, M. T., Viswanatha, D. S., Klee, E. W., Mangaonkar, A. A. & Patnaik, M. M., Apr 16 2019, In : Leukemia and Lymphoma. 60, 5, p. 1337-1339 3 p.

Research output: Contribution to journalLetter

2 Scopus citations

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

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

Research output: Contribution to journalArticle

6 Scopus citations

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

d'Avila Paskulin, L., Starosta, R. T., Zizemer, V. S., Basgalupp, S., Bertholdo, D., Vairo, F. P. E., Siebert, M., Michelin-Tirelli, K. & Schwartz, I. V. D., Dec 2019, In : Molecular Genetics and Metabolism Reports. 21, 100544.

Research output: Contribution to journalArticle

Open Access

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., Ferber, M., Van Hul, E., van der Werf, I. M., Wuyts, W., Babovic-Vuksanovic, D. & Klee, E. W., Mar 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e00560.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations
2018

Clinical and molecular characterization of neurofibromatosis in southern Brazil

Rosset, C., Vairo, F., Cristina Bandeira, I., Fonini, M., Netto, C. B. O. & Ashton-Prolla, P., Jun 3 2018, In : Expert Review of Molecular Diagnostics. 18, 6, p. 577-586 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

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. C., Peters, S. G., Scott, J. P., Utz, J. P., Baqir, M., Sekiguchi, H., Khan, S. P., Rodriguez, V., Simonetto, D. A., Kamath, P. S., Abraham, R. S., Wylam, M. E. & Patnaik, M. M., Jul 2018, In : Mayo Clinic proceedings. 93, 7, p. 834-839 6 p.

Research output: Contribution to journalArticle

9 Scopus citations

Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?

Matta, M. C., Vairo, F., Torres, L. C. & Schwartz, I., Feb 2018, In : Blood Cells, Molecules, and Diseases. 68, p. 200-202 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Deciphering Developmental Disorders Study, Nov 1 2018, In : American journal of human genetics. 103, 5, p. 666-678 13 p.

Research output: Contribution to journalArticle

19 Scopus citations

Diagnosis of attenuated mucopolysaccharidosis VI: Clinical, biochemical, and genetic pitfalls

E Vairo, F. P., Conboy, E., De Souza, C. F. M., Jones, A., Barnett, S. S., Klee, E. W. & Lanpher, B. C., Dec 2018, In : Pediatrics. 142, 6, e20180658.

Research output: Contribution to journalArticle

Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects

Giugliani, R., Dalla Corte, A., Poswar, F., Vanzella, C., Horovitz, D., Riegel, M., Baldo, G. & Vairo, F., Jul 3 2018, In : Expert Opinion on Orphan Drugs. 6, 7, p. 403-411 9 p.

Research output: Contribution to journalReview article

4 Scopus citations

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Unique presenting laboratory values and a review of biochemical and clinical features

Conboy, E., Vairo, F., Schultz, M., Agre, K., Ridsdale, R., Deyle, D., Oglesbee, D., Gavrilov, D., Klee, E. W. & Lanpher, B., Jan 1 2018, JIMD Reports. Springer, p. 63-69 7 p. (JIMD Reports; vol. 40).

Research output: Chapter in Book/Report/Conference proceedingChapter

8 Scopus citations

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS

Giugliani, R., Vairo, F., Kubaski, F., Poswar, F., Riegel, M., Baldo, G. & Saute, J. A., Jan 2018, In : The Lancet Child and Adolescent Health. 2, 1, p. 56-68 13 p.

Research output: Contribution to journalReview article

11 Scopus citations

Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients

Basgalupp, S. P., Siebert, M., Vairo, F. P. E., Chami, A. M., Pinto, L. L. D. C., Carvalho, G. D. S. & Schwartz, I. V. D., Feb 2018, In : Blood Cells, Molecules, and Diseases. 68, p. 17-20 4 p.

Research output: Contribution to journalArticle

2 Scopus citations
2017

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

Flanagan, S. E., Vairo, F., Johnson, M. B., Caswell, R., Laver, T. W., Lango Allen, H., Hussain, K. & Ellard, S., Jun 2017, In : Pediatric Diabetes. 18, 4, p. 320-323 4 p.

Research output: Contribution to journalArticle

Open Access
32 Scopus citations

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis

Dornelles, A. D., Artigalás, O., Da Silva, A. A., Ardila, D. L. V., Alegra, T., Pereira, T. V., E Vairo, F. P. & Schwartz, I. V. D., Aug 2017, In : PloS one. 12, 8, e0184065.

Research output: Contribution to journalReview article

Open Access
10 Scopus citations

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 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 2017, In : Clinical Genetics. 92, 2, p. 199-203 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

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

31 Scopus citations

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Rosset, C., Vairo, F., Bandeira, I. C., Correia, R. L., De Goes, F. V., Da Silva, R. T. B., Bueno, L. S. M., De Miranda Gomes, M. C. S., De Campos Reis Galvão, H., Neri, J. I. C. F., Achatz, M. I., Netto, C. B. O. & Ashton-Prolla, P., Oct 2017, In : PloS one. 12, 10, e0185713.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Vairo, F. P., Boczek, N. J., Cousin, M. A., Kaiwar, C., Blackburn, P. R., Conboy, E., Lanpher, B. C., Gavrilova, R. H., Pichurin, P. N., Lazaridis, K. N., Babovic-Vuksanovic, D. & Klee, E. W., Dec 1 2017, In : Molecular Genetics and Metabolism Reports. 13, p. 46-51 6 p.

Research output: Contribution to journalArticle

8 Scopus citations
2016

Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy

Biancini, G. B., Jacques, C. E., Hammerschmidt, T., de Souza, H. M., Donida, B., Deon, M., Vairo, F. P., Lourenço, C. M., Giugliani, R. & Vargas, C. R., Oct 1 2016, In : Clinica Chimica Acta. 461, p. 41-46 6 p.

Research output: Contribution to journalArticle

13 Scopus citations

Emerging drugs for the treatment of mucopolysaccharidoses

Giugliani, R., Federhen, A., Vairo, F., Vanzella, C., Pasqualim, G., Da Silva, L. M. R., Giugliani, L., De Boer, A. P. K., De Souza, C. F. M., Matte, U. & Baldo, G., Jan 2 2016, In : Expert Opinion on Emerging Drugs. 21, 1, p. 9-26 18 p.

Research output: Contribution to journalReview article

25 Scopus citations

Living related versus deceased donor liver transplantation for maple syrup urine disease

Feier, F., Schwartz, I. V. D., Benkert, A. R., Neto, J. S., Miura, I., Chapchap, P., da Fonseca, E. A., Vieira, S., Zanotelli, M. L., Vairo, F. P. E., Camelo, J. S., Margutti, A. V. B., Mazariegos, G. V., Puffenberger, E. G. & Strauss, K. A., Mar 1 2016, In : Molecular genetics and metabolism. 117, 3, p. 336-343 8 p.

Research output: Contribution to journalArticle

13 Scopus citations

Neuroimaging findings in patients with mucopolysaccharidosis: What you really need to know

Reichert, R., Campos, L. G., Vairo, F., de Souza, C. F. M., Pérez, J. A., Duarte, J. Á., Leiria, F. A., Anés, M. & Vedolin, L. M., Sep 1 2016, In : Radiographics. 36, 5, p. 1448-1462 15 p.

Research output: Contribution to journalArticle

Open Access
15 Scopus citations

Phenylketonuria and gut microbiota: A controlled study based on next-generation sequencing

De Oliveira, F. P., Mendes, R. H., Dobbler, P. T., Mai, V., Pylro, V. S., Waugh, S. G., Vairo, F., Refosco, L. F., Roesch, L. F. W. & Schwartz, I. V. D., Jun 2016, In : PloS one. 11, 6, 0157513.

Research output: Contribution to journalArticle

Open Access
18 Scopus citations

Rare disease landscape in Brazil: Report of a successful experience in inborn errors of metabolism Dr. Segolene Ayme

Giugliani, R., Vairo, F. P., Riegel, M., De Souza, C. F. M., Schwartz, I. V. D. & Pena, S. D. J., Jun 10 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 76.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

Koppe, T., Doneda, D., Siebert, M., Paskulin, L., Camargo, M., Tirelli, K. M., Vairo, F., Daudt, L. & Schwartz, I. V. D., Jan 1 2016, In : Genetics and Molecular Biology. 39, 1, p. 30-34 5 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations
2015

Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease

Vairo, F., Sperb-Ludwig, F., Wilke, M., Michellin-Tirelli, K., Netto, C., Neto, E. C. & Doederlein Schwartz, I. V., Jan 15 2015, In : Journal of neuroimmunology. 278, p. 190-193 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Brain Imaging and Genetic Risk in the Pediatric Population, Part 1. Inherited Metabolic Diseases

Longo, M. G., Vairo, F., Souza, C. F., Giugliani, R. & Vedolin, L. M., Jan 1 2015, In : Neuroimaging Clinics of North America. 25, 1, p. 31-51 21 p.

Research output: Contribution to journalArticle

5 Scopus citations

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Giugliani, R., Brusius-Facchin, A. C., Moura De Souza, C. F., Civallero, G., Burin, M., Leistner-Segal, S., Baldo, G. & Vairo, F., Feb 1 2015, In : Expert Opinion on Orphan Drugs. 3, 2, p. 141-150 10 p.

Research output: Contribution to journalReview article

5 Scopus citations

Diagnostic and treatment strategies in mucopolysaccharidosis VI

Vairo, F., Federhen, A., Baldo, G., Riegel, M., Burin, M., Leistner-Segal, S. & Giugliani, R., Oct 30 2015, In : Application of Clinical Genetics. 8, p. 245-255 11 p.

Research output: Contribution to journalReview article

Open Access
16 Scopus citations

Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease?

Vairo, F., Sperb-Ludwig, F., Wilke, M., Michellin-Tirelli, K., Netto, C., Neto, E. C. & Schwartz, I. V. D., Jun 15 2015, In : Journal of neuroimmunology. 283, 1 p.

Research output: Contribution to journalLetter

1 Scopus citations

Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil [J Community Genet, DOI 10.1007/s12687-015-0238-0]

Ashton-Prolla, P., Goldim, J. R., Vairo, F. P. E., da Silveira Matte, U. & Sequeiros, J., Jul 29 2015, In : Journal of Community Genetics. 6, 3, 1 p.

Research output: Contribution to journalComment/debate

Open Access
1 Scopus citations