Joana M. Prota
Sao Paulo, SP, Brazil
Last Updated: 09/26/2026
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Found 9 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
A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.
Journal: Psychiatric genetics
Published: March 12, 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
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
Slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the C9orf72 expansion and a Synaptophysin mutation.
Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association
Published: October 16, 2020
Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.
Journal: Muscle & nerve
Published: September 23, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026