Michele P. Migliavacca

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 19 publications

Characterization of individuals with skeletal dysplasia at a referral center in Brazil.

Characterization of individuals with skeletal dysplasia at a referral center in Brazil.

Journal: Journal of community genetics

Published: January 13, 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

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

Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.

Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders.

Journal: Cerebellum (London, England)

Published: March 11, 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

Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report.

Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report.

Journal: Biomedicine hub

Published: July 09, 2024

Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.

Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.

Journal: American journal of medical genetics. Part A

Published: December 05, 2023

Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum.

Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum.

Journal: Parkinsonism & related disorders

Published: June 21, 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

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

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

Published: March 17, 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

Showing 1-12 of 19

Last Updated: 09/26/2026