Larissa A. Costa

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

Heterozygous loss of function of <i>NR4A2</i> is associated with intellectual deficiency, rolandic epilepsy, and language impairment

Luiza Ramos, Fabíola Paoli Monteiro, Leticia P. B Sampaio et al. · Clinical Case Reports · 2019 · 20 citations · Full text

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations

Évelin Aline Zanardo, Fabíola Paoli Monteiro, Samar Nasser Chehimi et al. · Journal of Molecular Diagnostics · 2020 · 19 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +12