Vera Lúcia Gil-da-Silva-Lopes (V L Gil-da-Silva-Lopes, Vera L Gil-da-Silva-Lopes, Vera Lucia Gil-da-Silva-Lopes, Vera Lúcia Gil-Da-Silva-Lopes)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 39

Top Topics

Intellectual Disability

Congenital Heart Disease

Genome Wide Association Study

Top Venues

Orphanet journal of rare diseases

International journal of molecular sciences

Genetics research

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

Publications

Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Antonio Paiva Vieira
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity. 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)
Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires Dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Nogueira Belangero, Vera Lúcia Gil-da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome. Genetics research 2024 (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)
Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Antonio Paiva Vieira
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity. Genes 15 (4) (2024)
Isabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil. Orphanet journal of rare diseases 19 (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)
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)
Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires Dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Nogueira Belangero, Vera Lúcia Gil-da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome. Genetics research 2024 (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)
Isabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil. Orphanet journal of rare diseases 19 (1) (2024)
Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires Dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Nogueira Belangero, Vera Lúcia Gil-da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome. Genetics research 2024 (2024)
Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Antonio Paiva Vieira
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity. 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)
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique Tacla, Társis Antonio Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes 14 (4) (2023)
Carolina Gama Nascimento, Joana Rosa Marques Prota, Ilária Cristina Sgardioli, Samira Spineli-Silva, Nilma Lúcia Viguetti Campos, Vera Lúcia Gil-da-Silva-Lopes, Társis Antonio Paiva Vieira
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability. Genes 14 (4) (2023)
Milena Atique Tacla, Matheus de Mello Copelli, Eleonore Pairet, Isabella Lopes Monlleó, Erlane Marques Ribeiro, Elaine Lustosa Mendes, Raphaël Helaers, Társis Antonio Paiva Vieira, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum. European journal of human genetics : EJHG (2023)
Carolina Gama Nascimento, Joana Rosa Marques Prota, Ilária Cristina Sgardioli, Samira Spineli-Silva, Nilma Lúcia Viguetti Campos, Vera Lúcia Gil-da-Silva-Lopes, Társis Antonio Paiva Vieira
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability. Genes 14 (4) (2023)
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique Tacla, Társis Antonio Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes 14 (4) (2023)
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique Tacla, Társis Antonio Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes 14 (4) (2023)
Matheus de Mello Copelli, Eleonore Pairet, Milena Atique Tacla, Társis Antonio Paiva Vieira, Simone Appenzeller, Raphaël Helaers, Miikka Vikkula, Vera Lúcia Gil-da-Silva-Lopes
SATB2 -Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review. Genes 14 (4) (2023)
Carolina Gama Nascimento, Joana Rosa Marques Prota, Ilária Cristina Sgardioli, Samira Spineli-Silva, Nilma Lúcia Viguetti Campos, Vera Lúcia Gil-da-Silva-Lopes, Társis Antonio Paiva Vieira
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability. Genes 14 (4) (2023)
Carolina Gama Nascimento, Joana Rosa Marques Prota, Ilária Cristina Sgardioli, Samira Spineli-Silva, Nilma Lúcia Viguetti Campos, Vera Lúcia Gil-da-Silva-Lopes, Társis Antonio Paiva Vieira
Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability. Genes 14 (4) (2023)
Ana Paula Francese-Santos, Jakob A Meinel, Cristiane S C Piveta, Juliana G R Andrade, Beatriz A Barros, Helena Fabbri-Scallet, Vera Lúcia Gil-da-Silva-Lopes, Gil Guerra-Junior, Axel Künstner, Hauke Busch, Olaf Hiort, Maricilda Palandi de Mello, Ralf Werner, Andréa Trevas Maciel-Guerra
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication. International journal of molecular sciences 24 (1) (2022)
Pedro Rodrigues Sousa da Cruz, Galina Ananina, Rodrigo Secolin, Vera Lúcia Gil-da-Silva-Lopes, Carmen Silvia Passos Lima, Paulo Henrique Condeixa de França, Amanda Donatti, Gustavo Jacob Lourenço, Tânia Kawasaki de Araujo, Milena Simioni, Iscia Lopes-Cendes, Fernando Ferreira Costa, Mônica Barbosa de Melo
Demographic history differences between Hispanics and Brazilians imprint haplotype features. G3 (Bethesda, Md.) 12 (7) (2022)
Ana Paula Francese-Santos, Jakob A Meinel, Cristiane S C Piveta, Juliana G R Andrade, Beatriz A Barros, Helena Fabbri-Scallet, Vera Lúcia Gil-da-Silva-Lopes, Gil Guerra-Junior, Axel Künstner, Hauke Busch, Olaf Hiort, Maricilda Palandi de Mello, Ralf Werner, Andréa Trevas Maciel-Guerra
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication. International journal of molecular sciences 24 (1) (2022)
Isabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis. Orphanet journal of rare diseases 17 (1) (2022)
Ana Paula Francese-Santos, Jakob A Meinel, Cristiane S C Piveta, Juliana G R Andrade, Beatriz A Barros, Helena Fabbri-Scallet, Vera Lúcia Gil-da-Silva-Lopes, Gil Guerra-Junior, Axel Künstner, Hauke Busch, Olaf Hiort, Maricilda Palandi de Mello, Ralf Werner, Andréa Trevas Maciel-Guerra
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication. International journal of molecular sciences 24 (1) (2022)
Ana Paula Francese-Santos, Jakob A Meinel, Cristiane S C Piveta, Juliana G R Andrade, Beatriz A Barros, Helena Fabbri-Scallet, Vera Lúcia Gil-da-Silva-Lopes, Gil Guerra-Junior, Axel Künstner, Hauke Busch, Olaf Hiort, Maricilda Palandi de Mello, Ralf Werner, Andréa Trevas Maciel-Guerra
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication. International journal of molecular sciences 24 (1) (2022)
Vera Lúcia Gil-da-Silva-Lopes, Milena Atique Tacla, Ilária Cristina Sgardioli, Társis Antonio Paiva Vieira, Isabella Lopes Monlleó
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 184 (4) (2020)
Samira Spineli-Silva, Ilária Cristina Sgardioli, Ana P Dos Santos, Luna L Bergamini, Isabella L Monlleó, Marshall I B Fontes, Têmis Maria Félix, Erlane M Ribeiro, Ana C Xavier, Elaine Lustosa-Mendes, Vera Lúcia Gil-da-Silva-Lopes, Társis Antonio Paiva Vieira
Genomic imbalances in craniofacial microsomia. American journal of medical genetics. Part C, Seminars in medical genetics 184 (4) (2020)
Pedro Rodrigues Sousa da Cruz, Galina Ananina, Vera Lúcia Gil-da-Silva-Lopes, Milena Simioni, Farid Menaa, Marcos A C Bezerra, Igor F Domingos, Aderson S Araújo, Renata Pellegrino, Hakon H Hakonarson, Fernando F Costa, Mônica Barbosa de Melo
Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence. Scientific reports 9 (1) (2019)
Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health. Orphanet journal of rare diseases 14 (1) (2019)
Ilária Cristina Sgardioli, Matheus de Melo Copelli, Elaine Lustosa-Mendes, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
Pure 21q22.3 deletion identified in a patient with mild phenotypic features. Congenital anomalies 58 (5) (2018)
Fernanda Bueno Barbosa, Milena Simioni, Cláudia Emília Vieira Wiezel, Fábio Rossi Torres, Miriam Coelho Molck, Melvin M Bonilla, Tânia Kawasaki de Araujo, Eduardo Antônio Donadi, Vera Lúcia Gil-da-Silva-Lopes, Bernardo Lemos, Aguinaldo Luiz Simões
Copy number variation in the susceptibility to systemic lupus erythematosus. PloS one 13 (11) (2018)
Roberta M Volpe-Aquino, Isabella L Monlleó, Elaine Lustosa-Mendes, Amanda F Mora, Agnes C Fett-Conte, Têmis M Félix, Ana C Xavier, Rita Tonocchi, Erlane M Ribeiro, Rui Pereira, Raquel T Boy da Silva, Adriana A de Rezende, Denise P Cavalcanti, Vera Lúcia Gil-da-Silva-Lopes
CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies. Birth defects research 110 (1) (2017)
L T de Souza, T W Kowalski, J Ferrari, I L Monlléo, E M Ribeiro, J de Souza, A C Fett-Conte, T K de Araujo, Vera Lúcia Gil-da-Silva-Lopes, Â K C Ribeiro-Dos-Santos, S E B dos Santos, T M Félix
Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population. Oral diseases 22 (3) (2016)