Érika L. Freitas

TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

Maria Sandbacka, Hannele Laivuori, Érika L. Freitas et al. · Orphanet Journal of Rare Diseases · 2013 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing

Rodrigo Santa Cruz Guindalini, Danilo Vilela Viana, João Paulo Kitajima et al. · Scientific Reports · 2022 · 77 citations · Full text

Medicine, Genetics, Oncology +17

Genomic monitoring unveil the early detection of the SARS‐CoV‐2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil

Svetoslav Nanev Slavov, José Salvatore Leister Patané, Rafael dos Santos Bezerra et al. · Journal of Medical Virology · 2021 · 38 citations · Full text

Life Sciences, Genetics, Infectious Diseases +17

Genomic copy number alterations in non‐syndromic hearing loss

Carla Rosenberg, Érika L. Freitas, Daniela Tiaki Uehara et al. · Clinical Genetics · 2015 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Fabíola Paoli Monteiro, Cynthia J. Curry, Robert F. Hevner et al. · European Journal of Medical Genetics · 2019 · 29 citations

Life Sciences, Genetics, Molecular Genetics +13