| Causas genéticas, epigênicas e, ambientais do transtorno do espectro autista TA Zanolla, RA Fock, E Perrone, AC Garcia, ABA Perez, D Brunoni Cadernos de Pós-graduação em Distúrbios do Desenvolvimento 15 (2), 2015 | 27 | 2015 |
| Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review E Perrone, TR Cavole, MG Oliveira, LA Virmond, MFB Silva, MFF Soares, ... Genetics and molecular biology 43, e20180271, 2020 | 12 | 2020 |
| Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome E Perrone, ABA Perez, V D'Almeida, CB de Mello, MAA Jacobina, ... American Journal of Medical Genetics Part A 185 (4), 1047-1058, 2021 | 10 | 2021 |
| Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report TR Cavole, E Perrone, MF de Faria Soares, MR Dias da Silva, SS Maeda, ... American Journal of Medical Genetics Part A 182 (12), 3029-3034, 2020 | 10 | 2020 |
| Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review E Perrone, V D'Almeida, NL de Macena Sobreira, CB de Mello, ... American Journal of Medical Genetics Part A 182 (7), 1761-1766, 2020 | 10 | 2020 |
| A novel MGP gene mutation causing Keutel syndrome in a Brazilian patient E Perrone, K Chen, M Ramos, MF Milanezi, V Nakano, A Falconi, J Silva, ... Molecular syndromology 9 (3), 159-163, 2018 | 9 | 2018 |
| Determining the frequency of morphological characteristics in a sample of Brazilian children E Perrone, TA Zanolla, RA Fock, ABA Perez, D Brunoni Jornal de Pediatria (Versão em Português) 93 (6), 592-600, 2017 | 8 | 2017 |
| Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report TR Cavole, E Perrone, FSC Lucena de Castro, AB Alvarez Perez, ... American Journal of Medical Genetics Part A 182 (6), 1473-1476, 2020 | 7 | 2020 |
| Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review LA Virmond, C Micheletti, CMS Pinto, MFF Soares, F Milanezi, V Nakano, ... Blood Coagulation & Fibrinolysis 31 (1), 65-70, 2020 | 6 | 2020 |
| An Apparently balanced complex chromosome rearrangement involving seven breaks and four chromosomes in a healthy female and segregation/recombination in her affected son AE Campos, C Rosenberg, A Krepischi, M França, V Lopes, V Nakano, ... Molecular Syndromology 12 (5), 312-320, 2021 | 3 | 2021 |
| Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis M de França, MF de Faria Soares, ALP Luce, E Perrone Radiology case reports 15 (12), 2554-2556, 2020 | 3 | 2020 |
| BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil P Mazzonetto, F Milanezi, M D’Andrea, S Martins, PM Monfredini, ... Breast Cancer Research and Treatment 199 (1), 127-136, 2023 | 2 | 2023 |
| Copy number variations in SPAST and ATL1 are rare among Brazilians H Fussiger, BLS Pereira, JPD Padilha, KC Donis, ... Clinical Genetics 103 (5), 580-584, 2023 | 2 | 2023 |
| Partial 5p gain and 15q loss in three patients from a family with at (5; 15)(p13. 3; q26. 3) translocation FT Bellucco, BP Favilla, E Perrone, MI Melaragno Cytogenetic and Genome Research 160 (10), 589-596, 2021 | 2 | 2021 |
| Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes CRDAC Quaio, AVC Coelho, LMS Moura, RLM Guedes, K Chen, ... Frontiers in Genetics 13, 921324, 2022 | 1 | 2022 |
| Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses D Villela, PC Mazzonetto, MP Migliavacca, E Perrone, G Guida, ... American Journal of Medical Genetics Part A 185 (8), 2335-2344, 2021 | 1 | 2021 |
| A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review MG de Oliveira, C Tengan, C Micheletti, PR de Macedo, MCSP Cernach, ... European Journal of Medical Genetics 64 (5), 104195, 2021 | 1 | 2021 |
| Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome E Perrone, S Burlin, V D'Almeida, AB Alvarez Perez, ... Neurology 96 (11), e1593-e1594, 2021 | 1 | 2021 |
| ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review E Perrone, AVC Coelho, LA Virmond, JGA Espolaor, JBO Filho, ... American Journal of Medical Genetics Part A, e63602, 2024 | | 2024 |
| AVALIAÇÃO CLÍNICA, METABÓLICA E MOLECULAR DE PACIENTES COM ACIDEMIAS ORGÂNICAS. JAO Silva, BJ Frangipani, RB Oliveira, E Perrone, JB Pesquero, Y Sufin, ... Blucher Medical Proceedings 7 (2), 101-102, 2024 | | 2024 |
