Jose M. Ceroni
Sao Paulo, SP, Brazil
Last Updated: 09/26/2026
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Found 18 publications
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.
Journal: Pediatric research
Published: June 26, 2025
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
Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.
Journal: Clinical genetics
Published: August 29, 2024
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Journal: Genomics
Published: June 23, 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.
Journal: Frontiers in genetics
Published: April 15, 2022
Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil.
Journal: Nature communications
Published: March 31, 2022
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Journal: Nature communications
Published: September 30, 2020
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
Journal: Journal of human genetics
Published: April 20, 2019
Last Updated: 09/26/2026