Rachel S. Honjo

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 72 publications

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Journal: Journal of human genetics

Published: November 09, 2025

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Journal: American journal of medical genetics. Part A

Published: April 03, 2025

A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype.

A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype.

Journal: Molecular syndromology

Published: September 28, 2024

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

Journal: International journal of molecular sciences

Published: July 04, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

Journal: Molecular syndromology

Published: February 29, 2024

Teaching and training of human resources for genetics and genomics in Brazil.

Teaching and training of human resources for genetics and genomics in Brazil.

Journal: Journal of community genetics

Published: February 28, 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

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

Journal: European journal of medical genetics

Published: December 05, 2023

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Journal: Journal of human genetics

Published: October 25, 2023

Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years.

Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years.

Journal: Jornal de pediatria

Published: August 06, 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

Showing 1-12 of 72

Last Updated: 09/26/2026