Michele Patricia Migliavacca

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Ana Cristina Victorino Krepischi, Darine Villela, Silvia Souza da Costa et al. · Scientific Reports · 2022 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a <i>SCARF2</i> microdeletion

Michele Patricia Migliavacca, Nara L. M. Sobreira, Graziela P.M. Antonialli et al. · American Journal of Medical Genetics Part A · 2014 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 16 citations

Medicine, Genetics, Oncology +16

Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting

Patricia C. Mazzonetto, Darine Villela, Silvia Souza da Costa et al. · Annals of Human Genetics · 2023 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Medicine, Molecular Medicine, Neurology +17