Filippo Pinto E Vairo (F Pinto E Vairo, Filippo Vairo)

Scopus Author ID Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 32

Top Topics

Autism Spectrum Disorder

Histone Deacetylase

Ulcerative Colitis

Top Venues

Hepatology communications

Genetics and molecular biology

European journal of human genetics : EJHG

Orphanet journal of rare diseases

This page only lists publications with an associated author ORCID identifier.

Publications

Ana S Garcia Moreno, Maria Eugenia Guicciardi, Alexander Q Wixom, Erik Jessen, Jingchun Yang, Sumera Irie Ilyas, Jackie K Bianchi, Filippo Pinto E Vairo, Konstantinos N Lazaridis, Gregory J Gores
IL-17 signaling in primary sclerosing cholangitis patient-derived organoids. Hepatology communications 8 (6) (2024)
Xiaona Lu, Kim Ng, Filippo Pinto E Vairo, James Collins, Ronald D Cohn, Kacie Riley, Katherine Agre, Ralitza Gavrilova, Eric W Klee, Jill Anne Rosenfeld, Yong-Hui Jiang
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. European journal of human genetics : EJHG (2024)
Xiaona Lu, Kim Ng, Filippo Pinto E Vairo, James Collins, Ronald D Cohn, Kacie Riley, Katherine Agre, Ralitza Gavrilova, Eric W Klee, Jill Anne Rosenfeld, Yong-Hui Jiang
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. European journal of human genetics : EJHG 32 (7) (2024)
Xiaona Lu, Kim Ng, Filippo Pinto E Vairo, James Collins, Ronald D Cohn, Kacie Riley, Katherine Agre, Ralitza Gavrilova, Eric W Klee, Jill Anne Rosenfeld, Yong-Hui Jiang
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. European journal of human genetics : EJHG 32 (7) (2024)
Ana S Garcia Moreno, Maria Eugenia Guicciardi, Alexander Q Wixom, Erik Jessen, Jingchun Yang, Sumera Irie Ilyas, Jackie K Bianchi, Filippo Pinto E Vairo, Konstantinos N Lazaridis, Gregory J Gores
IL-17 signaling in primary sclerosing cholangitis patient-derived organoids. Hepatology communications 8 (6) (2024)
Mostafa Salama, Filippo Pinto E Vairo, Roland Hentz, Alaa Al Nofal, Sara Hassan, Samar H Ibrahim, Aida Lteif, Ana Creo, Siobhan T Pittock, Seema Kumar
Cardiometabolic Risk Markers in Children With Obesity and Variants in MC4R Pathway-related Genes. Journal of the Endocrine Society 8 (9) (2024)
Matheus V M B Wilke, Eric W Klee, Radhika Dhamija, Fernando C Fervenza, Brittany Thomas, Nelson Leung, Marie C Hogan, Megan M Hager, Kayla J Kolbert, Jennifer L Kemppainen, Elle C Loftus, Katie M Leitzen, Carolyn R Vitek, Tammy McAllister, Konstantinos N Lazaridis, Filippo Pinto E Vairo
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases. Orphanet journal of rare diseases 19 (1) (2024)
Seul Kee Byeon, Jinyong Kim, Peter Jared Wegwerth, Roman Zenka, John P George, Filippo Pinto E Vairo, Devin Oglesbee, Matthew J Schultz, Dietrich Matern, Akhilesh Pandey
Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism. Clinical chemistry (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Ana S Garcia Moreno, Maria Eugenia Guicciardi, Alexander Q Wixom, Erik Jessen, Jingchun Yang, Sumera Irie Ilyas, Jackie K Bianchi, Filippo Pinto E Vairo, Konstantinos N Lazaridis, Gregory J Gores
IL-17 signaling in primary sclerosing cholangitis patient-derived organoids. Hepatology communications 8 (6) (2024)
Ana S Garcia Moreno, Maria Eugenia Guicciardi, Alexander Q Wixom, Erik Jessen, Jingchun Yang, Sumera Irie Ilyas, Jackie K Bianchi, Filippo Pinto E Vairo, Konstantinos N Lazaridis, Gregory J Gores
IL-17 signaling in primary sclerosing cholangitis patient-derived organoids. Hepatology communications 8 (6) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Matheus V M B Wilke, Eric W Klee, Radhika Dhamija, Fernando C Fervenza, Brittany Thomas, Nelson Leung, Marie C Hogan, Megan M Hager, Kayla J Kolbert, Jennifer L Kemppainen, Elle C Loftus, Katie M Leitzen, Carolyn R Vitek, Tammy McAllister, Konstantinos N Lazaridis, Filippo Pinto E Vairo
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases. Orphanet journal of rare diseases 19 (1) (2024)
Ana S Garcia Moreno, Maria Eugenia Guicciardi, Alexander Q Wixom, Erik Jessen, Jingchun Yang, Sumera Irie Ilyas, Jackie K Bianchi, Filippo Pinto E Vairo, Konstantinos N Lazaridis, Gregory J Gores
IL-17 signaling in primary sclerosing cholangitis patient-derived organoids. Hepatology communications 8 (6) (2024)
Ana S Garcia Moreno, Maria Eugenia Guicciardi, Alexander Q Wixom, Erik Jessen, Jingchun Yang, Sumera Irie Ilyas, Jackie K Bianchi, Filippo Pinto E Vairo, Konstantinos N Lazaridis, Gregory J Gores
IL-17 signaling in primary sclerosing cholangitis patient-derived organoids. Hepatology communications 8 (6) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Matheus V M B Wilke, Eric W Klee, Radhika Dhamija, Fernando C Fervenza, Brittany Thomas, Nelson Leung, Marie C Hogan, Megan M Hager, Kayla J Kolbert, Jennifer L Kemppainen, Elle C Loftus, Katie M Leitzen, Carolyn R Vitek, Tammy McAllister, Konstantinos N Lazaridis, Filippo Pinto E Vairo
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases. Orphanet journal of rare diseases 19 (1) (2024)
Mostafa Salama, Filippo Pinto E Vairo, Roland Hentz, Alaa Al Nofal, Sara Hassan, Samar H Ibrahim, Aida Lteif, Ana Creo, Siobhan T Pittock, Seema Kumar
Cardiometabolic Risk Markers in Children With Obesity and Variants in MC4R Pathway-related Genes. Journal of the Endocrine Society 8 (9) (2024)
Xiaona Lu, Kim Ng, Filippo Pinto E Vairo, James Collins, Ronald D Cohn, Kacie Riley, Katherine Agre, Ralitza Gavrilova, Eric W Klee, Jill Anne Rosenfeld, Yong-Hui Jiang
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. European journal of human genetics : EJHG 32 (7) (2024)
Xiaona Lu, Kim Ng, Filippo Pinto E Vairo, James Collins, Ronald D Cohn, Kacie Riley, Katherine Agre, Ralitza Gavrilova, Eric W Klee, Jill Anne Rosenfeld, Yong-Hui Jiang
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. European journal of human genetics : EJHG 32 (7) (2024)
Stephanie L Safgren, Rory J Olson, Filippo Pinto E Vairo, Erick D Bothun, Christian Hanna, Eric W Klee, Lisa A Schimmenti
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype. American journal of medical genetics. Part A (2021)
Rodrigo Tzovenos Starosta, Marina Siebert, Filippo Pinto E Vairo, Bruno Lafaiete de Lima Costa, Christiano Tomaso Ponzoni, Ida Vanessa Döederlein Schwartz, Carlos Thadeu Schmidt Cerski
Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1. Autopsy & case reports 11 (2021)
Richard Scott Smith, Marta Florio, Shyam K Akula, Jennifer E Neil, Yidi Wang, R Sean Hill, Melissa Goldman, Christopher D Mullally, Nora Reed, Luis Bello-Espinosa, Laura Flores-Sarnat, Fabiola Paoli Monteiro, Erasmo Barbante Casella, Filippo Pinto E Vairo, Eva Morava, Anthony J Barkovich, Joseph Gonzalez-Heydrich, Catherine A Brownstein, Steven A McCarroll, Christopher A Walsh
Early role for a Na+,K+-ATPase (ATP1A3) in brain development. Proceedings of the National Academy of Sciences of the United States of America 118 (25) (2021)
Filippo Pinto E Vairo, Matthew J Koster, Jennifer L Kemppainen, Brittany C Thomas, Kenneth J Warrington
Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2). Rheumatology (Oxford, England) 60 (6) (2021)
Carson J Bryant, Cláudia Fernandes Lorea, Hiram Larangeira de Almeida, Letícia Weinert, Leonardo Vedolin, Filippo Pinto E Vairo, Susan J Baserga
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome. Proceedings of the National Academy of Sciences of the United States of America 118 (19) (2021)
Karina Miranda Santiago, Ligia Pereira Castro, João Pedreira Duprat Neto, A F de Nóbrega, C A L Pinto, Patricia Ashton-Prolla, Filippo Pinto E Vairo, Paula Frassinetti Vasconcelos de Medeiros, Erlane Marques Ribeiro, B F R Ribeiro, Fabio Francesconi, M J R Doriqui, Carlos Heli Bezerra Leite, R M Rocha, Livia Maria Silva Moura, Veridiana Munford, Pedro Alexandre Favoretto Galante, Carlos Frederico Martins Menck, Sílvia Regina Rogatto, Maria Isabel Waddington Achatz
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients. Journal of the European Academy of Dermatology and Venereology : JEADV 34 (10) (2020)
Antoine N Saliba, Alejandro Ferrer, Naseema Gangat, Rajiv K Pruthi, Ayalew Tefferi, Alexandra S Higgins, Evandro D Bezerra, Alessia Buglioni, Mohamed E Salama, Eric W Klee, Filippo Pinto E Vairo, Abhishek A Mangaonkar, Julie Majerus, Dong Chen, Mrinal M Patnaik
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients. British journal of haematology 190 (5) (2020)
Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Pinto E Vairo, Ursula Matte
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. Orphanet journal of rare diseases 15 (1) (2020)
Filippo Pinto E Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani
Precision Medicine for Lysosomal Disorders. Biomolecules 10 (8) (2020)
Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Pinto E Vairo, Roberto Giugliani
Mucopolysaccharidosis Type I. Diagnostics (Basel, Switzerland) 10 (3) (2020)
Fabiano de Oliveira Poswar, Filippo Pinto E Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani
Lysosomal diseases: Overview on current diagnosis and treatment. Genetics and molecular biology 42 (1 suppl 1) (2019)
Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Pinto E Vairo, Ida V D Schwartz
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma. Genetics and molecular biology 42 (3) (2019)