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 · 95 citations · Full text

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 · 72 citations · Full text

Genomic copy number alterations in non‐syndromic hearing loss

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

Genetics, Genetic Epidemiology, Genomics +16

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 · 31 citations · Full text

Virus Epidemiology, Viral Diagnostics, Genetic Epidemiology +16

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 · 28 citations

Developmental Anomaly, Molecular Physiology, Developmental Biology +8