Silvia S. Da Costa

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 23 publications

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.

Journal: Biology of sex differences

Published: October 21, 2025

A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome.

A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome.

Journal: Case reports in genetics

Published: August 26, 2025

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

Journal: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology

Published: December 11, 2023

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.

Journal: Audiology research

Published: October 01, 2023

Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.

Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.

Journal: Pediatric research

Published: September 11, 2023

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Journal: Molecular neurobiology

Published: July 13, 2023

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.

Journal: Annals of human genetics

Published: June 05, 2023

Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.

Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.

Journal: Gene

Published: December 12, 2022

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

Journal: Journal of autism and developmental disorders

Published: November 26, 2022

DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development.

DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development.

Journal: Molecular genetics and genomics : MGG

Published: October 07, 2022

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.

Journal: Scientific reports

Published: March 14, 2022

Genetic investigation of syndromic forms of obesity.

Genetic investigation of syndromic forms of obesity.

Journal: International journal of obesity (2005)

Published: February 18, 2022

Showing 1-12 of 23

Last Updated: 09/26/2026