Vera L. Lopes-Silva

Tessália Vieira De Camargo Street, 126
Campinas, SP 13083887, Brazil

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 92 publications

Brazilian growth charts for 22q11.2 deletion syndrome from birth to 17 years.

Brazilian growth charts for 22q11.2 deletion syndrome from birth to 17 years.

Journal: Jornal de pediatria

Published: February 21, 2026

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.

Journal: Einstein (Sao Paulo, Brazil)

Published: September 24, 2025

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal.

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal.

Journal: Clinics (Sao Paulo, Brazil)

Published: July 15, 2025

A comprehensive approach to users from a Brazilian clinical genetics service: an observational study.

A comprehensive approach to users from a Brazilian clinical genetics service: an observational study.

Journal: Orphanet journal of rare diseases

Published: May 13, 2025

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

Journal: Genes

Published: April 13, 2025

Whole exome sequencing in 18 Brazilian families with vertical transmission of non-syndromic oral clefts.

Whole exome sequencing in 18 Brazilian families with vertical transmission of non-syndromic oral clefts.

Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Published: October 25, 2024

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Journal: Molecular syndromology

Published: October 05, 2024

Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service.

Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service.

Journal: Orphanet journal of rare diseases

Published: June 26, 2024

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).

Journal: European journal of human genetics : EJHG

Published: June 10, 2024

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

Journal: American journal of medical genetics. Part A

Published: May 25, 2024

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Journal: American journal of medical genetics. Part A

Published: April 08, 2024

Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

Journal: Jornal de pediatria

Published: March 26, 2024

Showing 1-12 of 92

Last Updated: 09/26/2026