Eduardo Perrone

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 25 publications

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Journal: American journal of medical genetics. Part A
Published: December 01, 2025

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

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

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

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

ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

Journal: American journal of medical genetics. Part A
Published: January 27, 2024

Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome.

Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome.

Journal: Clinical dysmorphology
Published: September 07, 2023

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

BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.

BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.

Journal: Breast cancer research and treatment
Published: November 07, 2022

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

Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome.

Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome.

Journal: Neurology
Published: November 10, 2020

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.

Journal: Molecular syndromology
Published: November 01, 2020
Showing 1-12 of 25

Last Updated: 09/26/2026