Research output

Research output per year 2011 2015 2018 2019 2020 2021 2023 2024

• 80 Article
• 12 Letter
• 12 Review article
• 4 Comment/debate
• 6 More
  • 3 Chapter
  • 3 Editorial

Research output per year

Research output per year

Search results

• 2024

  Disease progression in Sanfilippo type B: Case series of Brazilian patients

  Montenegro, Y. H. A., Kubaski, F., Trapp, F. B., Riegel-Giugliani, M., de Souza, C. F. M., Ribeiro, E. M., Lourenço, C. M., Cardoso-Dos-santos, A. C., Ribeiro, M. G., Kim, C. A., Castro, M. A. A., Embiruçu, E. K., Steiner, C. E., Vairo, F. P. E., Baldo, G., Giugliani, R. & Poswar, F. D. O., 2024, In: Genetics and Molecular Biology. 47, 1, e20230285.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mucopolysaccharidosis III 100%
  • Disease Progression 74%
  • alpha-N-acetyl-D-glucosaminidase 56%
  • Mucopolysaccharidosis I 44%
  • Cardiovascular Abnormalities 43%

• Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis

  Alrehaili, G., Kemppainen, J., Kalra, S., Pinto e Vairo, F., Moua, T., Yi, E. S., Ferrer, A., Patnaik, M. M. & Carmona, E. M., 2024, (Accepted/In press) In: Lung.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Telomere 100%
  • Genetic Testing 93%
  • Interstitial Lung Diseases 71%
  • Surface-Active Agents 67%
  • Pulmonary Fibrosis 44%
• 2023

  Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

  Morales-Rosado, J. A., Schwab, T. L., Macklin-Mantia, S. K., Foley, A. R., Pinto e Vairo, F., Pehlivan, D., Donkervoort, S., Rosenfeld, J. A., Boyum, G. E., Hu, Y., Cong, A. T. Q., Lotze, T. E., Mohila, C. A., Saade, D., Bharucha-Goebel, D., Chao, K. R., Grunseich, C., Bruels, C. C., Littel, H. R., Estrella, E. A., & 10 othersPais, L., Kang, P. B., Zimmermann, M. T., Lupski, J. R., Lee, B., Schellenberg, M. J., Clark, K. J., Wierenga, K. J., Bönnemann, C. G. & Klee, E. W., Jun 1 2023, In: American journal of human genetics. 110, 6, p. 989-997 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Limb-girdle muscular dystrophy autosomal recessive 100%
  • Muscular Diseases 58%
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors 39%
  • Mevalonic Acid 36%
  • Muscular Dystrophies 32%

• Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?

  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., Feb 2023, In: Cytokine. 162, 156088.

  Research output: Contribution to journal › Article › peer-review

  • Glycogen Storage Disease 100%
  • Liver Glycogen 89%
  • Glycogen 83%
  • Cytokines 43%
  • Glycogen Storage Disease Type III 25%

• Editorial: Advances in chronic kidney disease diagnosis and therapy

  Ali, H., Pinto e Vairo, F., AlSahow, A. & Abu-Farha, M., 2023, In: Frontiers in Medicine. 10, 1209571.

  Research output: Contribution to journal › Editorial › peer-review

  Open Access

• Erratum: Impact of integrated translational research on clinical exome sequencing (Genetics in Medicine (2021) 23(3) (498–507), (S1098360021049455), (10.1038/s41436-020-01005-9))

  Klee, E. W., Cousin, M. A., Pinto e Vairo, F., Morales-Rosado, J. A., Macke, E. L., Jenkinson, W. G., Ferrer, A., Schultz-Rogers, L. E., Olson, R. J., Oliver, G. R., Sigafoos, A. N., Schwab, T. L., Zimmermann, M. T., Urrutia, R. A., Kaiwar, C., Gupta, A., Blackburn, P. R., Boczek, N. J., Prochnow, C. A., Lowy, R. J., & 40 othersMulvihill, L. A., McAllister, T. M., Aoudia, S. L., Kruisselbrink, T. M., Gunderson, L. B., Kemppainen, J. L., Fisher, L. J., Tarnowski, J. M., Hager, M. M., Kroc, S. A., Bertsch, N. L., Agre, K. E., Jackson, J. L., Macklin-Mantia, S. K., Murphree, M. I., Rust, L. M., Summer Bolster, J. M., Beck, S. A., Atwal, P. S., Ellingson, M. S., Barnett, S. S., Rasmussen, K. J., Lahner, C. A., Niu, Z., Hasadsri, L., Ferber, M. J., Marcou, C. A., Clark, K. J., Pichurin, P. N., Deyle, D. R., Morava-Kozicz, E., Gavrilova, R. H., Dhamija, R., Wierenga, K. J., Lanpher, B. C., Babovic-Vuksanovic, D., Farrugia, G., Schimmenti, L. A., Stewart, A. K. & Lazaridis, K. N., Feb 2023, In: Genetics in Medicine. 25, 2, 100359.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Viverridae 100%
  • Exome 84%
  • Translational Medical Research 80%
  • Medicine 51%

• Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): Genotype and phenotype of 22 patients with ZNF148 mutations

  Szakszon, K., Lourenco, C. M., Callewaert, B. L., Geneviève, D., Rouxel, F., Morin, D., Denommé-Pichon, A. S., Vitobello, A., Patterson, W., Louie, R., Pinto E Vairo, F., Klee, E., Kaiwar, C., Gavrilova, R. H., Agre, K. E., Jacquemont, S., Khadijé, J., Giltay, J., Van Gassen, K., Mer ', G., & 27 othersGerkes, E., Van Bon, B. W., Rinne, T., Pfundt, R., Brunner, H. G., Caluseriu, O., Grasshoff, U., Kehrer, M., Haack, T. B., Khelifa, M. M., Bergmann, A. K., Cueto-González, A. M., Martorell, A. C., Ramachandrappa, S., Sawyer, L. B., Fasel, P., Braun, D., Isis, A., Superti-Furga, A., McNiven, V., Chitayat, D., Ahmed, S. A., Brennenstuhl, H., Schwaibolf, E. M. C., Battisti, G., Parmentier, B. & Stevens, S. J. C., 2023, (Accepted/In press) In: Journal of medical genetics. jmg-2022-109030.

  Research output: Contribution to journal › Article › peer-review

  • Corpus Callosum 100%
  • Genotype 64%
  • Phenotype 53%
  • Mutation 50%
  • Frameshift Mutation 27%

• GBA1 variants in Brazilian Gaucher disease patients

  Brazilian Collaborative Group on Gaucher Disease, Dec 2023, In: Molecular Genetics and Metabolism Reports. 37, 101006.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Gaucher Disease 100%
  • Exons 62%
  • Brazil 39%
  • Alleles 23%
  • Glucosylceramidase 15%

• Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

  Pinto e Vairo, F., Kemppainen, J. L., Vitek, C. R. R., Whalen, D. A., Kolbert, K. J., Sikkink, K. J., Kroc, S. A., Kruisselbrink, T., Shupe, G. F., Knudson, A. K., Burke, E. M., Loftus, E. C., Bandel, L. A., Prochnow, C. A., Mulvihill, L. A., Thomas, B., Gable, D. M., Graddy, C. B., Garzon, G. G. M., Ekpoh, I. U., & 43 othersPorquera, E. M. C., Fervenza, F. C., Hogan, M. C., El Ters, M., Warrington, K. J., Davis, J. M., Koster, M. J., Orandi, A. B., Basiaga, M. L., Vella, A., Kumar, S., Creo, A. L., Lteif, A. N., Pittock, S. T., Tebben, P. J., Abate, E. G., Joshi, A. Y., Ristagno, E. H., Patnaik, M. S., Schimmenti, L. A., Dhamija, R., Sabrowsky, S. M., Wierenga, K. J., Keddis, M. T., Samadder, N. J. J., Presutti, R. J., Robinson, S. I., Stephens, M. C., Roberts, L. R., Faubion, W. A., Driscoll, S. W., Wong-Kisiel, L. C., Selcen, D., Flanagan, E. P., Ramanan, V. K., Jackson, L. M., Mauermann, M. L., Ortega, V. E., Anderson, S. A., Aoudia, S. L., Klee, E. W., McAllister, T. M. & Lazaridis, K. N., Dec 2023, In: Journal of Translational Medicine. 21, 1, 410.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Undiagnosed Diseases 100%
  • Tertiary Healthcare 63%
  • Rare Diseases 62%
  • Genetic Counseling 49%
  • Genetic Testing 46%

• Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach

  El Ters, M., Pinto E Vairo, F., Prochnow, C., Schinstock, C., Dean, P., Kemppainen, J., Lazaridis, K., Cosio, F., Fervenza, F. C., Cornell, L., Amer, H. & Hogan, M. C., Apr 1 2023, In: Transplantation. 107, 4, p. 952-960 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Kidney Diseases 100%
  • Transplants 74%
  • Genetic Testing 73%
  • Kidney 63%
  • Focal Segmental Glomerulosclerosis 61%

• Pilot study of newborn screening for six lysosomal diseases in Brazil

  Kubaski, F., Sousa, I., Amorim, T., Pereira, D., Silva, C., Chaves, V., Brusius-Facchin, A. C., Netto, A. B. O., Soares, J., Vairo, F., Poletto, E., Trometer, J., Souza, A., Ranieri, E., Polo, G., Hong, X., Herbst, Z. M., Burlina, A., Gelb, M. H. & Giugliani, R., Sep 1 2023, In: Molecular genetics and metabolism. 140, 1-2, 107654.

  Research output: Contribution to journal › Article › peer-review

  • Neonatal Screening 100%
  • Brazil 77%
  • Tandem Mass Spectrometry 70%
  • Newborn Infant 65%
  • Biological Marker 38%

• Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

  Goldstein, J. L., McGlaughon, J., Kanavy, D., Goomber, S., Pan, Y., Deml, B., Donti, T., Kearns, L., Seifert, B. A., Schachter, M., Son, R. G., Thaxton, C., Udani, R., Bali, D., Baudet, H., Caggana, M., Hung, C., Kyriakopoulou, L., Rosenblum, L., Steiner, R., & 7 othersPinto e Vairo, F., Wang, Y., Watson, M., Fernandez, R., Weaver, M., Clarke, L. & Rehder, C., Sep 1 2023, In: Molecular genetics and metabolism. 140, 1-2, 107715.

  Research output: Contribution to journal › Article › peer-review

  • Glycogen Storage Disease Type II 100%
  • Medical Genetics 93%
  • Glycogen 82%
  • Molecular Pathology 79%
  • Genomics 70%
• 2022

  A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

  Marafi, D., Kozar, N., Duan, R., Bradley, S., Yokochi, K., Al Mutairi, F., Saadi, N. W., Whalen, S., Brunet, T., Kotzaeridou, U., Choukair, D., Keren, B., Nava, C., Kato, M., Arai, H., Froukh, T., Faqeih, E. A., AlAsmari, A. M., Saleh, M. M., Pinto e Vairo, F., & 20 othersPichurin, P. N., Klee, E. W., Schmitz, C. T., Grochowski, C. M., Mitani, T., Herman, I., Calame, D. G., Fatih, J. M., Du, H., Coban-Akdemir, Z., Pehlivan, D., Jhangiani, S. N., Gibbs, R. A., Miyatake, S., Matsumoto, N., Wagstaff, L. J., Posey, J. E., Lupski, J. R., Meijer, D. & Wagner, M., Sep 1 2022, In: American journal of human genetics. 109, 9, p. 1713-1723 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Myokymia 100%
  • Reverse Genetics 77%
  • Genomics 59%
  • Peripheral Nerves 57%
  • Familial Temporal epilepsy 39%

• De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype

  Safgren, S. L., Olson, R. J., Pinto e Vairo, F., Bothun, E. D., Hanna, C., Klee, E. W. & Schimmenti, L. A., Mar 2022, In: American Journal of Medical Genetics, Part A. 188, 3, p. 919-925 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Glaucoma 100%
  • Cakut 88%
  • Patent Ductus Arteriosus 64%
  • Muscle Hypotonia 63%
  • Phenotype 63%

• Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies

  Winckler, P. B., Chwal, B. C., Dos Santos, M. A. R., Burguêz, D., Polese-Bonatto, M., Zanoteli, E., Siebert, M., Vairo, F. P. E., Chaves, M. L. F. & Saute, J. A. M., Jul 2022, In: Neurological Sciences. 43, 7, p. 4473-4481 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Muscular Dystrophies 100%
  • Muscular Diseases 90%
  • Limb-Girdle Muscular Dystrophies 41%
  • High-Throughput Nucleotide Sequencing 40%
  • Genes 33%

• Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience

  Paskulin, L. DA., Starosta, R. T., E Vairo, F. P., Krug, B. C., Picon, P. & Schwartz, I. V. D., 2022, In: Journal of Inborn Errors of Metabolism and Screening. 10, e20210031.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • taliglucerase alfa 100%
  • Gaucher Disease 63%
  • Enzyme Replacement Therapy 31%
  • Safety 27%
  • imiglucerase 13%

• Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

  Wilke, M. V. M. B., Morava-Kozicz, E., Koster, M. J., Schmitz, C. T., Foster, S. K., Patnaik, M., Warrington, K. J., Klee, E. W. & Pinto e Vairo, F., Dec 2022, In: BMC Rheumatology. 6, 1, 54.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Exome 100%
  • Alleles 61%
  • Arthrogryposis multiplex congenita, distal, X-linked 37%
  • Gene Frequency 32%
  • Anterior Horn Cells 23%

• Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

  Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., & 51 othersGavrilova, R. H., Graham, J. M., Haack, T. B., Juusola, J., Kant, S. G., Kayani, S., Keren, B., Ketteler, P., Klöckner, C., Koopmann, T. T., Kruisselbrink, T. M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R. R., Leduc, M. S., Leonardi, E., Lewis, A. M., 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, C. K., Guillen Sacoto, M. J., Scaglia, F., Shinawi, M., Spranger, S., Tan, E. S., Taylor, J., Trentesaux, A. S., Vairo, F., Willaert, R., Zadeh, N., Urrutia, R., Babovic-Vuksanovic, D., Zimmermann, M. T., Mathie, A. & Klee, E. W., Dec 2022, In: Genome medicine. 14, 1, 62.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Psychological Imprinting 100%
  • Language Development Disorders 11%
  • Population Biological Variation 10%
  • Muscle Hypotonia 10%
  • Neurodevelopmental Disorders 10%

• TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability

  Radenkovic, S., Martinelli, D., Zhang, Y., Preston, G. J., Maiorana, A., Terracciano, A., Dentici, M. L., Pisaneschi, E., Novelli, A., Ranatunga, W., Ligezka, A. N., Ghesquière, B., Deyle, D. R., Kozicz, T., Pinto e Vairo, F., Witters, P. & Morava, E., Apr 2022, In: Genetics in Medicine. 24, 4, p. 894-904 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Congenital Disorders of Glycosylation 100%
  • Glycosylation 66%
  • Intellectual Disability 60%
  • Metabolomics 20%
  • Fibroblasts 13%
• 2021

  Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

  Wilson, M. P., Garanto, A., Pinto e Vairo, F., Ng, B. G., Ranatunga, W. K., Ventouratou, M., Baerenfaenger, M., Huijben, K., Thiel, C., Ashikov, A., Keldermans, L., Souche, E., Vuillaumier-Barrot, S., Dupré, T., Michelakakis, H., Fiumara, A., Pitt, J., White, S. M., Lim, S. C., Gallacher, L., & 15 othersPeters, H., Rymen, D., Witters, P., Ribes, A., Morales-Romero, B., Rodríguez-Palmero, A., Ballhausen, D., de Lonlay, P., Barone, R., Janssen, M. C. H., Jaeken, J., Freeze, H. H., Matthijs, G., Morava, E. & Lefeber, D. J., Nov 4 2021, In: American journal of human genetics. 108, 11, p. 2130-2144 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Congenital Disorders of Glycosylation 100%
  • Glycosylation 66%
  • Catalytic Domain 58%
  • dolichyl-diphosphooligosaccharide - protein glycotransferase 44%
  • Yeasts 20%

• Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

  Bryant, C. J., Lorea, C. F., De Almeida, H. L., Weinert, L., Vedolin, L., Vairo, F. P. E. & Baserga, S. J., May 11 2021, In: Proceedings of the National Academy of Sciences of the United States of America. 118, 19, e2017777118.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 100%
  • Exons 33%
  • Large Ribosome Subunits 11%
  • RNA Precursors 8%
  • Skin Abnormalities 5%

• 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

  Paskulin, L. D. Á., Starosta, R. T., Bertholdo, D., Vairo, F. P., Vedolin, L. & Schwartz, I. V. D., Sep 2021, In: Blood Cells, Molecules, and Diseases. 90, 102591.

  Research output: Contribution to journal › Article › peer-review

  • Gaucher Disease 100%
  • Bone Marrow 55%
  • Therapeutics 12%
  • Acute Disease 10%
  • Live Birth 9%

• Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

  Van Geest, F. S., Meima, M. E., Stuurman, K. E., Wolf, N. I., Van Der Knaap, M. S., Lorea, C. F., Poswar, F. O., Vairo, F., Brunetti-Pierri, N., Cappuccio, G., Bakhtiani, P., De Munnik, S. A., Peeters, R. P., Visser, W. E. & Groeneweg, S., Feb 1 2021, In: Journal of Clinical Endocrinology and Metabolism. 106, 2, p. 539-553 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Intellectual Disability 100%
  • Fibroblasts 78%
  • Thyroid Hormone 71%
  • Thyroid Function Tests 70%
  • Thyroid 66%

• Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths

  Mangaonkar, A. A., Ferrer, A., Vairo, F. P. E., Hammel, C. W., Prochnow, C., Gangat, N., Hogan, W. J., Litzow, M. R., Peters, S. G., Scott, J. P., Utz, J. P., Baqir, M., Carmona-Porquera, E. M., Kalra, S., Sekiguchi, H., Khan, S. P., Simonetto, D. A., Klee, E. W., Kamath, P. S., Roden, A. C., & 4 othersJoshi, A. Y., Kennedy, C. C., Wylam, M. E. & Patnaik, M. M., Oct 2021, In: Blood cancer journal. 11, 10, 170.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

• Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2)

  Pinto E Vairo, F., Koster, M. J., Kemppainen, J. L., Thomas, B. C. & Warrington, K. J., Jun 1 2021, In: Rheumatology (United Kingdom). 60, 6, p. E218-E219

  Research output: Contribution to journal › Letter › peer-review

  Open Access

• Early role for a Na⁺,K⁺-ATPase (ATP1A3) in brain development

  Smith, R. S., Florio, M., Akula, S. K., Neil, J. E., Wang, Y., Sean Hill, R., Goldman, M., Mullally, C. D., Reed, N., Bello-Espinosa, L., Flores-Sarnat, L., Monteiro, F. P., Erasmo, C. B., Vairo, F. P. E., Morava, E., James Barkovich, A., Gonzalez-Heydrich, J., Brownstein, C. A., McCarroll, S. A. & Walsh, C. A., Jun 22 2021, In: Proceedings of the National Academy of Sciences of the United States of America. 118, 25, e2023333118.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • sodium-translocating ATPase 100%
  • Brain 44%
  • Neurons 27%
  • Neocortex 25%
  • Human Development 24%

• Elevated holo-transcobalamin in Gaucher disease type II: A case report

  Basgalupp, S. P., Donis, K. C., Siebert, M., e Vairo, F. P., Artigalas, O., de Camargo Pinto, L. L., Behringer, S., Spiekerkoetter, U., Hannibal, L. & Schwartz, I. V. D., Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2471-2476 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Transcobalamins 100%
  • Gaucher Disease 85%
  • Glucosylceramides 10%
  • Ichthyosis 10%
  • Biomarkers 9%

• Establishing a nephrology genetic clinic

  Pinto e Vairo, F., Kemppainen, J. L., Lieske, J. C., Harris, P. C. & Hogan, M. C., Aug 2021, In: Kidney international. 100, 2, p. 254-259 6 p.

  Research output: Contribution to journal › Editorial › peer-review

• Genomics Integration Into Nephrology Practice

  Pinto e Vairo, F., Prochnow, C., Kemppainen, J. L., Lisi, E. C., Steyermark, J. M., Kruisselbrink, T. M., Pichurin, P. N., Dhamija, R., Hager, M. M., Albadri, S., Cornell, L. D., Lazaridis, K. N., Klee, E. W., Senum, S. R., El Ters, M., Amer, H., Baudhuin, L. M., Moyer, A. M., Keddis, M. T., Zand, L., & 6 othersSas, D. J., Erickson, S. B., Fervenza, F. C., Lieske, J. C., Harris, P. C. & Hogan, M. C., Sep 1 2021, In: Kidney Medicine. 3, 5, p. 785-798 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Nephrology 100%
  • Genomics 85%
  • Chronic Renal Insufficiency 77%
  • Exome 67%
  • Cakut 46%

• Histomorphometric analysis of liver biopsies of treated patients with gaucher disease type 1

  Starosta, R. T., Siebert, M., E Vairo, F. P., Costa, B. L. D. L., Ponzoni, C. T., Schwartz, I. V. D. & Cerski, C. T. S., 2021, In: Autopsy and Case Reports. 11, e2021306.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Gaucher Disease 100%
  • Biopsy 45%
  • Liver 38%
  • Glucosylceramides 27%
  • Macrophages 26%

• Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection

  Miao, J., Pinto e Vairo, F., Hogan, M. C., Erickson, S. B., El Ters, M., Bentall, A. J., Kukla, A., Greene, E. L., Hernandez, L. H., Sethi, S., Lazaridis, K. N., Pichurin, P. N., Lisi, E., Prochnow, C. A., Zand, L. & Fervenza, F. C., Sep 2021, In: Mayo Clinic proceedings. 96, 9, p. 2342-2353 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Focal Segmental Glomerulosclerosis 100%
  • Patient Selection 67%
  • Kidney Diseases 14%
  • Genetic Testing 14%
  • Odds Ratio 13%

• Impact of integrated translational research on clinical exome sequencing

  Klee, E. W., Cousin, M. A., Pinto e Vairo, F., Morales-Rosado, J. A., Macke, E. L., Jenkinson, W. G., Ferrer, A., Schultz-Rogers, L. E., Olson, R. J., Oliver, G. R., Sigafoos, A. N., Schwab, T. L., Zimmermann, M. T., Urrutia, R. A., Kaiwar, C., Gupta, A., Blackburn, P. R., Boczek, N. J., Prochnow, C. A., Lowy, R. J., & 40 othersMulvihill, L. A., McAllister, T. M., Aoudia, S. L., Kruisselbrink, T. M., Gunderson, L. B., Kemppainen, J. L., Fisher, L. J., Tarnowski, J. M., Hager, M. M., Kroc, S. A., Bertsch, N. L., Agre, K. E., Jackson, J. L., Macklin-Mantia, S. K., Murphree, M. I., Rust, L. M., Summer Bolster, J. M., Beck, S. A., Atwal, P. S., Ellingson, M. S., Barnett, S. S., Rasmussen, K. J., Lahner, C. A., Niu, Z., Hasadsri, L., Ferber, M. J., Marcou, C. A., Clark, K. J., Pichurin, P. N., Deyle, D. R., Morava-Kozicz, E., Gavrilova, R. H., Dhamija, R., Wierenga, K. J., Lanpher, B. C., Babovic-Vuksanovic, D., Farrugia, G., Schimmenti, L. A., Stewart, A. K. & Lazaridis, K. N., Mar 2021, In: Genetics in Medicine. 23, 3, p. 498-507 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Exome 100%
  • Translational Medical Research 94%
  • Undiagnosed Diseases 57%
  • Precision Medicine 9%
  • Causality 8%

• Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross-sectional analysis

  Reichert, R., Pérez, J. A., Dalla-Corte, A., Pinto e Vairo, F., de Souza, C. F. M., Giugliani, R., Isolan, G. R. & Stefani, M. A., Jul 2021, In: JIMD Reports. 60, 1, p. 32-41 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mucopolysaccharidoses 100%
  • Magnetic Resonance 73%
  • Magnetic Resonance Imaging 46%
  • Cross-Sectional Studies 45%
  • Disorder 30%

• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

  Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2417-2433 17 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ectodermal Dysplasia 100%
  • Hearing Loss 67%
  • Tooth 51%
  • Cohort Studies 48%
  • Nonsyndromic Deafness 18%
• 2020

  Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients

  Saliba, A. N., Ferrer, A., Gangat, N., Pruthi, R. K., Tefferi, A., Higgins, A., Bezerra, E. D., Buglioni, A., Salama, M. E., Klee, E. W., Pinto e Vairo, F., Mangaonkar, A., Majerus, J., Chen, D. & Patnaik, M. M., Sep 1 2020, In: British journal of haematology. 190, 5, p. e316-e320

  Research output: Contribution to journal › Letter › peer-review

  Open Access
  3 Scopus citations

• 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 journal › Article › peer-review

  • Phenylketonurias 100%
  • Attention Deficit Disorder with Hyperactivity 78%
  • Early Diagnosis 11%
  • Pemetrexed 9%
  • Impulsive Behavior 7%

• Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

  Pinto e Vairo, F., Kroc, S. A., Bertsch, N. L., Sigafoos, A. N., Lee, H. B., Dsouza, N. R., Clark, K. J., Pichurin, P. N., Zimmermann, M. T. & Klee, E. W., Nov 2020, In: Thrombosis research. 195, p. 187-189 3 p.

  Research output: Contribution to journal › Letter › peer-review
  1 Scopus citations

• 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

  Starosta, R. T., Tarnowski, J., Vairo, F. P. E., Raymond, K., Preston, G. & Morava, E., Jul 2020, In: European Journal of Medical Genetics. 63, 7, 103941.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Congenital Disorders of Glycosylation 100%
  • Optic Atrophy 84%
  • Genetic Testing 49%
  • Phenotype 38%
  • Whole Exome Sequencing 38%

• 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., Oct 1 2020, In: Journal of the European Academy of Dermatology and Venereology. 34, 10, p. 2392-2401 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Xeroderma Pigmentosum 100%
  • Germ-Line Mutation 84%
  • Complementation Group E Xeroderma Pigmentosum 19%
  • Variant type Xeroderma pigmentosum 18%
  • Mucoepidermoid Carcinoma 14%
  2 Scopus citations

• Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

  Borges, P., Pasqualim, G., Giugliani, R., Vairo, F. & Matte, U., Dec 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 324.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mucopolysaccharidoses 100%
  • Exome 84%
  • Mucopolysaccharidosis I 80%
  • Genome 47%
  • Population 27%
  2 Scopus citations

• Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder

  Schultz-Rogers, L., Masuho, I., Pinto e Vairo, F., Schmitz, C. T., Schwab, T. L., Clark, K. J., Gunderson, L., Pichurin, P. N., Wierenga, K., Martemyanov, K. A. & Klee, E. W., Nov 2020, In: Molecular Genetics and Genomic Medicine. 8, 11, e1477.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Haploinsufficiency 100%
  • Neurodevelopmental Disorders 91%
  • Muscle Hypotonia 26%
  • Intellectual Disability 21%
  • Seizures 17%
  3 Scopus citations

• 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 journal › Article › peer-review

  Open Access

  • Gaucher Disease 100%
  • Liver 38%
  • Hepatomegaly 22%
  • Hepatocellular Carcinoma 15%
  • Fibrosis 13%
  2 Scopus citations

• 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., 2020, In: Diagnostics. 10, 3, 161.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Intrathecal 100%
  • Mucopolysaccharidosis I 82%
  • Dermatan Sulfate 80%
  • Heparan Sulfate 74%
  • Glycosaminoglycan 67%
  5 Scopus citations

• Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: A case report

  Pinto E Vairo, F., Pichurin, P. N., Fervenza, F. C., Nasr, S. H., Mills, K., Schmitz, C. T., Klee, E. W. & Herrmann, S. M., Aug 13 2020, In: BMC Nephrology. 21, 1, 341.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Salcedo syndrome 100%
  • Fabry Disease 56%
  • Biopsy 25%
  • Kidney 22%
  • Focal Segmental Glomerulosclerosis 21%
  1 Scopus citations

• Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

  Schultz-Rogers, L., Muthusamy, K., Pinto e Vairo, F., Klee, E. W. & Lanpher, B., Dec 2020, In: BMC Medical Genetics. 21, 1, 219.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Neurodevelopmental Disorders 100%
  • Microcephaly 41%
  • Megalencephaly 24%
  • Mothers 10%
  • Phenotype 10%

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

  Undiagnosed Diseases Network, Jan 15 2020, In: Biological psychiatry. 87, 2, p. 100-112 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Neurodevelopmental Disorders 100%
  • Transforming Growth Factors 89%
  • Virulence 55%
  • X Chromosome Inactivation 27%
  • Joint Instability 27%
  13 Scopus citations

• Precision Medicine for Lysosomal Disorders

  Pinto E Vairo, F., Rojas Málaga, D., Kubaski, F., Fischinger Moura de Souza, C., de Oliveira Poswar, F., Baldo, G. & Giugliani, R., Jul 26 2020, In: Biomolecules. 10, 8

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Precision Medicine 100%
  • Disorder 79%
  • Enzyme Activator 78%
  • Enzyme Activity 38%
  • Metabolic 37%

• Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn’s Disease

  Macke, E. L., Pinto e Vairo, F., Manian, D. V., Smith, A. R., Kemppainen, J. L., Klee, E. W., Stephens, M. C. & Joshi, A. Y., Oct 1 2020, In: Journal of Clinical Immunology. 40, 7, p. 1056-1061 6 p.

  Research output: Contribution to journal › Letter › peer-review

• Therapeutic options for mucopolysaccharidosis ii (Hunter disease)

  Kubaski, F., Vairo, F., Baldo, G., Poswar, F. D. O., Corte, A. D. & Giugliani, R., 2020, In: Current pharmaceutical design. 26, 40, p. 5100-5109 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Intrathecal 100%
  • Mucopolysaccharidoses 82%
  • Glycosaminoglycan 67%
  • Mucopolysaccharidosis II 43%
  • Gene Editing 35%
  1 Scopus citations

• Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

  Magalhães, 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., Nov 1 2020, In: Jornal de Pediatria. 96, 6, p. 710-716 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Congenital Disorders of Glycosylation 100%
  • Isoelectric Focusing 77%
  • Transferrin 69%
  • Fructose Intolerance 21%
  • Liver Diseases 21%
  4 Scopus citations