| Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion MP Migliavacca, NLM Sobreira, GPM Antonialli, MM Oliveira, ... American journal of medical genetics Part A 164 (5), 1170-1174, 2014 | 16 | 2014 |
| Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil ACV Krepischi, D Villela, SS da Costa, PC Mazzonetto, J Schauren, ... Scientific Reports 12 (1), 15184, 2022 | 11 | 2022 |
| 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 |
| Cytogenomic delineation and clinical follow‐up of two siblings with an 8.5 Mb 6q24. 2‐q25. 2 deletion inherited from a paternal insertion VA Meloni, RS Guilherme, MM Oliveira, M Migliavacca, SS Takeno, ... American Journal of Medical Genetics Part A 164 (9), 2378-2384, 2014 | 7 | 2014 |
| Case 278: Mutation in ROBO3 Gene—Horizontal Gaze Palsy and Progressive Scoliosis FA Scortegagna, FT Pacheco, RH Nunes, A Serpa, MP Migliavacca, ... Radiology 295 (3), 736-740, 2020 | 4 | 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 |
| Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting PC Mazzonetto, D Villela, SS da Costa, ACV Krepischi, F Milanezi, ... Annals of Human Genetics 88 (2), 113-125, 2024 | 2 | 2024 |
| 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 |
| Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum TYT Silva, D Villela, TTSL Cavalcanti, MP Migliavacca, JL Pedroso, ... Parkinsonism & Related Disorders, 2023 | 1 | 2023 |
| A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 MP Migliavacca, RA Fock, N Almeida, T Cavalcanti, D Villela, ABA Perez, ... Revista Paulista de Pediatria 41, e2022057, 2023 | 1 | 2023 |
| 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 |
| Cromidrose apócrina-relato de caso tratado com capsaicina tópica e medicamento homeopático CH Oliveira, M Rebechi, PC Quagliara, A Daolio, MP Migliavacca, ... Diagn. tratamento, 4-5, 2007 | 1 | 2007 |
| Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil MP Migliavacca, J Sobreira, D Bermeo, M Gomes, D Alencar, L Sussuchi, ... American Journal of Medical Genetics Part A, 2024 | | 2024 |
| Um caso brasileiro de síndrome IFAP com ictiose congênita grave e malformações de membros causadas por uma variante rara em MBTPS2 MP Migliavacca, RA Fock, N Almeida, T Cavalcanti, D Villela, ABA Perez, ... Revista Paulista de Pediatria 41, e2022057, 2023 | | 2023 |
| BRCA1 and BRCA2 germline mutation analysis from a cohort of 1,267 high-risk breast cancer patients in Brazil D Villela, P Mazzonetto, F Milanezi, M Andrea, S Martins, PM Monfredini, ... | | 2022 |
| Central Diabetes Insipidus, family report, molecular study, and its importance SL Filipe, R Sousa, D Villela, T Cavalcanti, M Migliavacca, R Fontes, ... Endocrine Abstracts 81, 2022 | | 2022 |
| An apparently balanced complex chromosome rearrangement involving eight breaks and five chromosomes in a healthy female and segregation/recombination to her affected son E Perrone, AM Palumbo, JM Fernandes, PM Monfredini, MR Cochak, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1873-1874, 2019 | | 2019 |
| Application of exome sequencing to reverse dysmorphology: case report of one patient with pathogenic variant in HDAC8 M Migliavacca, N Sobreira, D Valle, A Perez EUROPEAN JOURNAL OF HUMAN GENETICS 26, 468-468, 2018 | | 2018 |
| Exoma na prática clínica: expansão fenotípica, dismorfologia reversa e descoberta de novos genes MP Migliavacca Universidade Federal de São Paulo (UNIFESP), 2016 | | 2016 |
| Propedêutica genético-clínica M MIGLIAVACCA, FB PIAZZON, D BRUNONI Clínica médica: diagnóstico e tratamento, 2013 | | 2013 |
