Eduardo Perrone

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

Eduardo Perrone, Thiago R. Cavole, Manuella G. Oliveira et al. · Genetics and Molecular Biology · 2020 · 15 citations · Full text

Mendelian Disorder, C12orf65 Gene Variants, Mitochondrial Function +13

Overlapping phenotype comprising <scp>Kenny‐Caffey</scp> type 2 and <scp>Sanjad‐Sakati</scp> syndromes: The first case report

Thiago R. Cavole, Eduardo Perrone, Maria de Fátima de Faria Soares et al. · American Journal of Medical Genetics Part A · 2020 · 14 citations

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

Patricia C. Mazzonetto, Fernanda Milanezi, Mariana D’Andrea et al. · Breast Cancer Research and Treatment · 2023 · 14 citations

Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Eduardo Perrone, Vânia D’Almeida, Nara Sobreira et al. · American Journal of Medical Genetics Part A · 2020 · 13 citations · Full text

Developmental Anomaly, Gomez-lópez-hernández Syndrome, Mendelian Disorder +12

Clinical and molecular evaluation of 13 Brazilian patients with <scp>Gomez‐López‐Hernández</scp> syndrome

Eduardo Perrone, Ana Beatriz Alvarez Pérez, Vânia D’Almeida et al. · American Journal of Medical Genetics Part A · 2020 · 13 citations