Publications

  1. Colonetti K, Pinto E Vairo F, Siebert M, Nalin T, Poloni S, Fernando Wurdig Roesch L, Fischinger Moura de Souza C, Cabral Pinheiro F, Vanessa Doederlein Schwartz I. Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects? Cytokine. 2023 Feb; 162:156088 Epub 2022 Nov 30
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  2. El Ters M, Pinto E Vairo F, Prochnow C, Schinstock C, Dean P, Kemppainen J, Lazaridis K, Cosio F, Fervenza FC, Cornell L, Amer H, Hogan MC. Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach. Transplantation. 2022 Oct 18 [Epub ahead of print]
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  3. Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 Sep 1; 109 (9):1713-1723 Epub 2022 Aug 09
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  4. Wilke MVMB, Morava-Kozicz E, Koster MJ, Schmitz CT, Foster SK, Patnaik M, Warrington KJ, Klee EW, Pinto E Vairo F. Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report. BMC Rheumatol. 2022 Aug 30; 6 (1):54
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  5. Winckler PB, Chwal BC, Dos Santos MAR, Burguez D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FPE, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurol Sci. 2022 Jul; 43 (7):4473-4481 Epub 2022 Feb 17
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  6. Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klockner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 Jun 13; 14 (1):62 Epub 2022 June 13
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  7. Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquiere B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability. Genet Med. 2022 Apr; 24 (4):894-904 Epub 2022 Jan 15
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  8. Safgren SL, Olson RJ, Pinto E Vairo F, Bothun ED, Hanna C, Klee EW, Schimmenti LA. De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype. Am J Med Genet A. 2022 Mar; 188 (3):919-925 Epub 2021 Nov 19
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  9. Paskulin LD, Starosta RT, Pinto e Vairo F, Krug BC, Picon P, Schwartz IVD. Efficacy and safety of taliglucerase alfa for the treatment of Gaucher disease: a 9-year experience. Journal of Inborn Errors of Metabolism and Screening. 2022; 10:e20210031
  10. Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupre T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodriguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Am J Hum Genet. 2021 Nov 4; 108 (11):2130-2144 Epub 2021 Oct 14
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  11. Mangaonkar AA, Ferrer A, Vairo FPE, Hammel CW, Prochnow C, Gangat N, Hogan WJ, Litzow MR, Peters SG, Scott JP, Utz JP, Baqir M, Carmona-Porquera EM, Kalra S, Sekiguchi H, Khan SP, Simonetto DA, Klee EW, Kamath PS, Roden AC, Joshi AY, Kennedy CC, Wylam ME, Patnaik MM. Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths. Blood Cancer J 2021 Oct 22; 11 (10):170
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  12. Pinto E Vairo F, Prochnow C, Kemppainen JL, Lisi EC, Steyermark JM, Kruisselbrink TM, Pichurin PN, Dhamija R, Hager MM, Albadri S, Cornell LD, Lazaridis KN, Klee EW, Senum SR, El Ters M, Amer H, Baudhuin LM, Moyer AM, Keddis MT, Zand L, Sas DJ, Erickson SB, Fervenza FC, Lieske JC, Harris PC, Hogan MC. Genomics Integration Into Nephrology Practice. Kidney Med. 2021 Sep-Oct; 3 (5):785-798 Epub 2021 June 29
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  13. Miao J, Pinto E Vairo F, Hogan MC, Erickson SB, El Ters M, Bentall AJ, Kukla A, Greene EL, Hernandez LH, Sethi S, Lazaridis KN, Pichurin PN, Lisi E, Prochnow CA, Zand L, Fervenza FC. Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection. Mayo Clin Proc. 2021 Sep; 96 (9):2342-2353 Epub 2021 June 11
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  14. Paskulin LD, Starosta RT, Bertholdo D, Vairo FP, Vedolin L, Schwartz IVD. Bone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment. Blood Cells Mol Dis. 2021 Sep; 90:102591 Epub 2021 July 01
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  15. Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gerard B, Bloch-Zupan A, Smith RJ, Klee EW, Undiagnosed Diseases Network. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Am J Med Genet A. 2021 Aug; 185 (8):2417-2433 Epub 2021 May 27
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  16. Basgalupp SP, Donis KC, Siebert M, E Vairo FP, Pinto e Vairo F, Artigalas O, de Camargo Pinto LL, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Elevated holo-transcobalamin in Gaucher disease type II: A case report. Am J Med Genet A. 2021 Aug; 185 (8):2471-2476 Epub 2021 May 24
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  17. Reichert R, Perez JA, Dalla-Corte A, Pinto E Vairo F, de Souza CFM, Giugliani R, Isolan GR, Stefani MA. Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysis. JIMD Rep. 2021 Jul; 60 (1):32-41 Epub 2021 Mar 21
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  18. Smith RS, Florio M, Akula SK, Neil JE, Wang Y, Hill RS, Goldman M, Mullally CD, Reed N, Bello-Espinosa L, Flores-Sarnat L, Monteiro FP, Erasmo CB, Pinto E Vairo F, Morava E, Barkovich AJ, Gonzalez-Heydrich J, Brownstein CA, McCarroll SA, Walsh CA. Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development. Proc Natl Acad Sci U S A. 2021 Jun 22; 118 (25)
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  19. Pinto E Vairo F, Koster MJ, Kemppainen JL, Thomas BC, Warrington KJ. Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2). Rheumatology (Oxford) 2021 Jun 18; 60 (6):e218-e219
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  20. Bryant CJ, Lorea CF, de Almeida HL Jr, Weinert L, Vedolin L, Pinto E Vairo F, Baserga SJ. Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome. Proc Natl Acad Sci U S A. 2021 May 11; 118 (19)
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  21. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23 (3):498-507 Epub 2020 Nov 04
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  22. van Geest FS, Meima ME, Stuurman KE, Wolf NI, van der Knaap MS, Lorea CF, Poswar FO, Vairo F, Brunetti-Pierri N, Cappuccio G, Bakhtiani P, de Munnik SA, Peeters RP, Visser WE, Groeneweg S. Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series. J Clin Endocrinol Metab. 2021 Jan 23; 106 (2):539-553
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  23. Starosta RT, Siebert M, Vairo FPE, Costa BLL, Ponzoni CT, Schwartz IVD, Cerski CTS. Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1. Autops Case Rep. 2021; 11:e2021306 Epub 2021 Aug 20
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  24. Borges P, Pasqualim G, Giugliani R, Vairo F, Matte U. Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. Orphanet J Rare Dis. 2020 Nov 18; 15 (1):324
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  25. Schultz-Rogers L, Muthusamy K, Pinto E Vairo F, Klee EW, Lanpher B. Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report. BMC Med Genet. 2020 Nov 10; 21 (1):219
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  26. Pinto E Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW. Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa. Thromb Res 2020 Nov; 195:187-189 Epub 2020 July 09
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  27. Magalhaes APPS, Burin MG, Souza CFM, de Bitencourt FH, Sebastiao FM, Silva TO, Vairo FPE, Schwartz IVD. Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center. J Pediatr (Rio J). 2020 Nov - Dec; 96 (6):710-716 Epub 2019 Oct 31
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  28. Schultz-Rogers L, Masuho I, Pinto E Vairo F, Schmitz CT, Schwab TL, Clark KJ, Gunderson L, Pichurin PN, Wierenga K, Martemyanov KA, Klee EW. Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder. Mol Genet Genomic Med. 2020 Nov; 8 (11):e1477 Epub 2020 Sept 12
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  29. Macke EL, Pinto E Vairo F, Manian DV, Smith AR, Kemppainen JL, Klee EW, Stephens MC, Joshi AY. Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease. J Clin Immunol 2020 Oct; 40 (7):1056-1061 Epub 2020 July 27
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  30. Santiago KM, Castro LP, Neto JPD, de Nobrega AF, Pinto CAL, Ashton-Prolla P, Pinto E Vairo F, de Medeiros PFV, Ribeiro EM, Ribeiro BFR, do Valle FF, Doriqui MJR, Leite CHB, Rocha RM, Moura LMS, Munford V, Galante PAF, Menck CFM, Rogatto SR, Achatz MI. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients. J Eur Acad Dermatol Venereol. 2020 Oct; 34 (10):2392-2401 Epub 2020 May 21
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  31. Saliba AN, Ferrer A, Gangat N, Pruthi RK, Tefferi A, Higgins A, Bezerra ED, Buglioni A, Salama ME, Klee EW, Pinto E Vairo F, Mangaonkar A, Majerus J, Chen D, Patnaik MM. Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients. Br J Haematol 2020 Sep; 190 (5):e316-e320 Epub 2020 June 22
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  32. Pinto E Vairo F, Pichurin PN, Fervenza FC, Nasr SH, Mills K, Schmitz CT, Klee EW, Herrmann SM. Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report. BMC Nephrol. 2020 Aug 13; 21 (1):341
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  33. Pinto E Vairo F, Rojas Malaga D, Kubaski F, Fischinger Moura de Souza C, de Oliveira Poswar F, Baldo G, Giugliani R. Precision Medicine for Lysosomal Disorders. Biomolecules. 2020 Jul 26; 10 (8) Epub 2020 July 26
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  34. Starosta RT, Tarnowski J, Vairo FPE, Pinto E Vairo F, Raymond K, Preston G, Morava E. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. Eur J Med Genet. 2020 Jul; 63 (7):103941 Epub 2020 May 11
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  35. Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Matte UDS, Horovitz DD, Barth AL, Baldo G, Vairo F, Giugliani R. Mucopolysaccharidosis Type I. Diagnostics (Basel). 2020 Mar 16; 10 (3)
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  36. Starosta RT, Vairo FPE, Pinto e Vairo F, Dornelles AD, Basgalupp SP, Siebert M, Pedroso MLA, Cerski CTS, Alvares-da-Silva MR, Schwartz IVD. Liver involvement in patients with Gaucher disease types I and III. Mol Genet Metab Rep. 2020 Mar; 22:100564 Epub 2020 Jan 07
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  37. Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Gronborg S, Mercier S, Kury S, Bezieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Desir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, Lopez-Otin C, Santiago-Fernandez O, Fernandez-Jaen A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Perez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gecz J, Jolly LA, Undiagnosed Diseases Network. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor beta Signaling. Biol Psychiatry. 2020 Jan 15; 87 (2):100-112 Epub 2019 June 29
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  38. Kubaski F, Vairo F, Baldo G, de Oliveira Poswar F, Corte AD, Giugliani R. Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease). Curr Pharm Des. 2020; 26 (40):5100-5109
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  39. d'Avila Paskulin L, Starosta RT, Zizemer VS, Basgalupp S, Bertholdo D, Vairo FPE, Siebert M, Michelin-Tirelli K, Schwartz IVD. Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1. Mol Genet Metab Rep. 2019 Dec; 21:100544 Epub 2019 Nov 22
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  40. Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Gangat N, Hogan WJ, Litzow MR, McAllister TM, Klee EW, Lazaridis KN, Stewart AK, Patnaik MM. Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias. Mayo Clin Proc. 2019 Sep; 94 (9):1753-1768 Epub 2019 June 27
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  41. Pereira C, de Souza C, Vedolin L, Vairo F, Lorea C, Sobreira N, Nogueira C, Vilarinho L. Leigh Syndrome Due to mtDNA Pathogenic Variants Journal of Inborn Errors of Metabolism and Screening. 2019.
  42. Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Siebert M, Jobim M, Vairo F, Schwartz IVD. [PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma. Genet Mol Biol. 2019 Jun 10 Epub 2019 June 10
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  43. Pinheiro FC, Sperb-Ludwig F, Ligabue-Braun R, Schuler-Faccini L, de Souza CFM, Vairo F, Schwartz IVD. Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency. Gene. 2019 May 30; 699:102-109 Epub 2019 Mar 09
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  44. Wilke MVMB, Dornelles AD, Schuh AS, Vairo FP, Basgalupp SP, Siebert M, Nalin T, Piltcher OB, Schwartz IVD. Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1. Orphanet J Rare Dis. 2019 May 10; 14 (1):103
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  45. Paskulin L, Dornelles AD, Quevedo A, Nalin T, Tirelli KM, Vairo F, Schwartz IVD. Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe? Mol Genet Metab Rep. 2019 Mar; 18:30-31 Epub 2019 Jan 16
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  46. Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW. RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. Mol Genet Genomic Med. 2019 Mar; 7 (3):e00560 Epub 2019 Jan 10
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  47. Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 Mar 1; 129 (3):1240-1256 Epub 2019 Feb 11
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  48. Starosta RT, Pinto E Vairo F, Dornelles AD, Cerski CTS, Alvares-da-Silva MR, Schwartz IVD. Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines. Blood Cells Mol Dis 2019 Feb; 74:34-36 Epub 2018 Oct 18
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  49. Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease. Mol Genet Metab. 2019 Jan; 126 (1):6-13 Epub 2018 Dec 11
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  50. Poswar FO, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, Souza CFM, Baldo G, Giugliani R. Lysosomal diseases: Overview on current diagnosis and treatment. Genet Mol Biol. 2019; 42 (1 suppl 1):165-177 Epub 2019 Apr 25
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  51. Pinto E Vairo F, Conboy E, de Souza CFM, Jones A, Barnett SS, Klee EW, Lanpher BC. Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls. Pediatrics. 2018 Dec; 142 (6)
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  52. Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC, Task Force for Neonatal Genomics//Deciphering Developmental Disorders Study. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 Nov 1; 103 (5):666-678 Epub 2018 Oct 18
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  53. Pinto E Vairo F, Bertsch N, Klee EW, Gavrilova RH. GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease. Acta Neuropathol Commun 2018 Oct 24; 6 (1):112
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  54. Gabriel Santos da Silva F, Vairo F, Moura de Souza CF, Schwartz IVD. Attention deficit hyperactivity disorder in Brazilian patients with phenylketonuria Acta Neurologica Belgica. 2018; 1-7.
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  55. Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes. Mayo Clin Proc. 2018 Jul; 93 (7):834-839
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  56. Giugliani R, Dalla Corte A, Poswar F, Vanzella C, Horovitz D, Riegel M, Baldo G, Vairo F. Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects EXPERT OPINION ON ORPHAN DRUGS. 2018.
  57. Rosset C, Vairo F, Cristina Bandeira I, Fonini M, Netto CBO, Ashton-Prolla P. Clinical and molecular characterization of neurofibromatosis in southern Brazil. Expert Rev Mol Diagn. 2018 Jun; 18 (6):577-586 Epub 2018 Apr 27
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  58. Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features. JIMD Rep. 2018; 40:63-69 Epub 2017 Oct 14
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  59. Giugliani R, Vairo F, Kubaski F, Poswar F, Riegel M, Baldo G, Saute J. Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS The Lancet Child & Adolescent Health. 2017; 2:56-68.
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  60. Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW. The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients. Mol Genet Metab Rep. 2017 Dec; 13:46-51 Epub 2017 Aug 11
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  61. Reichert R, Campos LG, Vairo F, Souza CFM, Pérez JA, Duarte JA, Leiria FA, Anés M, Vedolin LM. Neuroimaging-Befunde bei Mukopolysaccharidose: Was Sie wirklich wissen müssen Neuroradiologie Scan. 2017; 7(4):297-316.
  62. Rosset C, Vairo F, Bandeira IC, Correia RL, de Goes FV, da Silva RTB, Bueno LSM, de Miranda Gomes MCS, Galvão HCR, Neri JICF, Achatz MI, Netto CBO, Ashton-Prolla P. Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. PLoS One. 2017.
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  65. Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN. Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. Cold Spring Harb Mol Case Stud. 2017 May; 3 (3):a001743
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  68. de Almeida PA, Machado-Costa MC, Manzoli GN, Ferreira LS, Rodrigues MC, Bueno LS, Saute JA, Pinto Vairo F, Matte US, Siebert M, Cossio SL, Macedo GS, Winckler PB, Becker MM, Magalhaes LV, Goncalves MV, Marrone CD, Nucci A, Franca MC Jr. Genetic profile of Brazilian patients with dystrophinopathies. Clin Genet. 2017 Jan 24;
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  73. Biancini GB, Jacques CE, Hammerschmidt T, de Souza HM, Donida B, Deon M, Vairo FP, Lourenço CM, Giugliani R, Vargas CR. Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy. Clin Chim Acta. 2016.
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  75. Pinheiro de Oliveira F, Mendes RH, Dobbler PT, Mai V, Pylro VS, Waugh SG, Vairo F, Refosco LF, Roesch LF, Schwartz IV. Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing. PLoS One. 2016; 11.
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  76. Giugliani R, Vairo FP, Riegel M, de Souza CF, Schwartz IV, Pena SD. Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism Orphanet J Rare Dis. 2016; 1.
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  77. Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS Jr, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA. Living related versus deceased donor liver transplantation for maple syrup urine disease. Mol Genet Metab. 2016 Mar; 117: (3)336-43.
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  78. Koppe T, Doneda D, Siebert M, Paskulin L, Camargo M, Tirelli KM, Vairo F, Daudt L, Schwartz IV. The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease. Genet Mol Biol. 2016; 1:30-34.
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  79. Giugliani R, Federhen A, Vairo F, Vanzella C, Pasqualim G, da Silva LM, Giugliani L, de Boer AP, de Souza CF, Matte U, Baldo G. Emerging drugs for the treatment of mucopolysaccharidoses. Expert Opin Emerg Drugs. 2016; 21: (1)9-26.
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  80. Dick J, Leistner-Segal S, Pinto e Vairo F, Giugliani R, Schwartz IVD. Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil Clinical and Biomedical Research. 2016; 36(1):23-26.
  81. Vieira AR, Lee M, Vairo F, Loguercio Leite JC, Munerato MC, Visioli F, D'Avila SR, Wang SK, Choi M, Simmer JP, Hu JC. Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Dec; 120: (6)e235-9.
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  82. Ashton-Prolla P, Goldim JR, Vairo FP, da Silveira Matte U, Sequeiros J. Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil. J Community Genet. 2015 Jul; 6: (3)285.
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  83. Giugliani R, Baldo G, Vairo F, Lujan Lopez M, Matte U. The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent. J Community Genet. 2015 Jul; 6: (3)189-91.
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  84. Vairo F, Sperb-Ludwig F, Wilke M, Michellin-Tirelli K, Netto C, Neto EC, Schwartz I. Osteopontin: a potential biomarker of Gaucher disease. Ann Hematol. 2015 Jul; 94: (7)1119-25.
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  86. Koppe T, Vairo F, Camargo M, Paskulin L, Daudt L, Schwartz IV. Serum ß2-microglobulin is frequently elevated in type 1 Gaucher patients. Molecular Genetics and Metabolism Reports. 2015; 2:38-40.
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  87. Giugliani R, Brusius-Facchin AC, Moura de Souza CF, Burin M, Leistner-Segal S, Baldo G, Vairo F. Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome). Expert Opinion on Orphan Drugs.2015;3:(2)141-150.
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  89. Vairo F, Sperb-Ludwig F, Wilke M, Michellin-Tirelli K, Netto C, Neto EC, Doederlein Schwartz IV. Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease. J Neuroimmunol. 2015 Jan 15; 278:190-3.
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  90. Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R. Diagnostic and treatment strategies in mucopolysaccharidosis VI. Appl Clin Genet. 2015; 8:245-55.
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  91. Dornelles AD, de Oliveira Netto CB, Vairo F, de Mari JF, Tirelli KM, Schwartz IV. Breastfeeding in Gaucher disease: is enzyme replacement therapy safe? Clin Ther. 2014 Jun 1; 36: (6)990-1.
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  92. Vairo F, Lopez ML, Cruz CU, Correa PG, Baldo G. The challenges of organizing an international course in Latin America. Genet Mol Biol. 2014 Mar; 37: (1 Suppl)149-50.
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  94. Doneda D, Vairo FP, Lopes AL, Reischak-Oliveira A, Schestatsky P, Bianchin MM, Moulin CC, Schwartz IV. Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III. JIMD Rep. 2014; 14:37-42.
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  95. Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat. 2013 Aug; 34: (8)1160-71.
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  96. Vairo F, Netto C, Tirelli KM, Siebert M, Burin M, Saraiva-Pereira ML, Balreira A, Sa Miranda MC, Lukacs Z, Schwartz IV. Screening of high-risk Gaucher disease patients using dried blood spots techniques. Gene. 2013 Jul 1; 523: (1)114-5.
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  97. Vairo F, Portela P, Salim PH, Jobim M, Netto C, Dorneles A, Mittlestadt S, Jobim LF, Schwartz IV. Human leukocyte antigens and Gaucher disease. Blood Cells Mol Dis. 2013 Mar; 50: (3)202-5.
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  98. Vairo F, Portela P, Salim PH, Jobim M, Netto C, Dorneles A, Mittlestadt S, Jobim LF, Schwartz IV. KIR genes and HLA class I ligands in Gaucher disease. Gene. 2013 Mar 1; 516: (1)53-7.
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  99. Vairo F, Netto C, Dorneles A, Mittelstadt S, Wilke M, Doneda D, Michelin K, Ribeiro CB, Quevedo A, Vieira T, Nalin T, Lueska S, Schwartz IV. Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment. JIMD Rep. 2013; 11:1-6.
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  100. Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giugliani R. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. Gene. 2013 Jan 1; 512: (1)113-6.
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  101. Alegra T, Vairo F, de Souza MV, Krug BC, Schwartz IV. Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis. Genet Mol Biol. 2012 Dec; 35: (4 (suppl))947-54.
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  102. Vairo F, Alegra T, Dornelles A, Mittelstadt S, Netto CB, Schwartz IV. Hyperimmunoglobulinemia in pediatric Gaucher patients in Southern Brazil. Pediatr Blood Cancer. 2012 Aug; 59: (2)339.
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  103. Siebert M, Donis KC, Socal M, Rieder CR, Emmel VE, Vairo F, Michelin-Tirelli K, Franca M Jr, D'Abreu AC, Bettencourt C, Lima M, Lopes Cendes I, Saraiva-Pereira ML, Jardim LB. Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3. Parkinsonism Relat Disord. 2012 Feb; 18: (2)185-90.
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  104. Vairo F, Vedolin L. The basis of inborn errors of metabolism for neuroradiologists. Top Magn Reson Imaging. 2011 Oct; 22: (5)209-14.
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  105. Beckhauser AP, Faria J, Marchioro J, Vairo F, Skare T. Tobacco exposure in rheumatoid arthritis. Endocrinology and Clinical and Experimental Diabetes .2007;8:626-629.