Carolina A. Moreno

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 22 publications

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

Molecular characterization of Alkaptonuria in Brazilian patients.

Molecular characterization of Alkaptonuria in Brazilian patients.

Journal: Molecular genetics and metabolism reports

Published: August 22, 2025

Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.

Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.

Journal: Pediatric research

Published: June 26, 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

ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing.

ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing.

Journal: Journal of human genetics

Published: January 28, 2025

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

Journal: Genes

Published: March 22, 2024

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.

Journal: Human genomics

Published: August 03, 2023

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Journal: Frontiers in genetics

Published: April 15, 2022

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

Journal: Molecular syndromology

Published: June 11, 2021

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 15, 2021

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Journal: American journal of human genetics

Published: May 24, 2019

Evaluation of a new predictor of heart and left anterior descending artery dose in patients treated with adjuvant radiotherapy to the left breast.

Evaluation of a new predictor of heart and left anterior descending artery dose in patients treated with adjuvant radiotherapy to the left breast.

Journal: Radiation oncology (London, England)

Published: April 18, 2018

Showing 1-12 of 22

Last Updated: 09/26/2026