Carlos Eduardo Steiner

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 20

Top Topics

Intellectual Disability

Juvenile Idiopathic Arthritis

Top Venues

Genetics and molecular biology

American journal of medical genetics. Part A

Arquivos de neuro-psiquiatria

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

Publications

Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Patricia C Mazzonetto, Darine Villela, Ana C V Krepischi, Paulo M Pierry, Adriano Bonaldi, Luiz Gustavo D Almeida, Marcelo G Paula, Matheus Carvalho Bürger, Ana Gabriela de Oliveira, Gustavo G G Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos-Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana Forte Mazzeu, Eduardo Perrone, Roseli M Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, Társis Antonio Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina-Neto, Cristovam Scapulatempo-Neto, Fernanda Milanezi, Carla Rosenberg
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American journal of medical genetics. Part A (2024)
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, null Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Syndromic Retinitis Pigmentosa: A 15-Patient Study. Genes 15 (4) (2024)
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, null Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Syndromic Retinitis Pigmentosa: A 15-Patient Study. Genes 15 (4) (2024)
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, null Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Syndromic Retinitis Pigmentosa: A 15-Patient Study. Genes 15 (4) (2024)
Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, null On Behalf Of The Rare Genomes Project Consortium, Társis Antonio Paiva Vieira, Carlos Eduardo Steiner
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis. Genes 15 (4) (2024)
Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, null On Behalf Of The Rare Genomes Project Consortium, Társis Antonio Paiva Vieira, Carlos Eduardo Steiner
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis. Genes 15 (4) (2024)
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (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)
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)
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori Dos Santos, Társis Antonio Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome. Genes 15 (2) (2024)
Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, null On Behalf Of The Rare Genomes Project Consortium, Társis Antonio Paiva Vieira, Carlos Eduardo Steiner
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis. Genes 15 (4) (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)
José Thiago de Souza de Castro, Camilo Lotfi Saab, Mariam Patrícia Auada Souto, Juliane Giselle Ortolam, Carlos Eduardo Steiner, Thiago Junqueira Ribeiro de Rezende, Fabiano Reis
Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software. Arquivos de neuro-psiquiatria 81 (9) (2023)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing. Genes 14 (12) (2023)
Yorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Sandra Leistner-Segal, Ana Carolina Brusius Facchin, Fernanda S Medeiros, Luciana Giugliani, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araujo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Maria Lucia Castro Moreira, Hector Quintero Montano, Guilherme Baldo, Roberto Giugliani
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network. American journal of medical genetics. Part A (2021)