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American Journal of Medical Genetics. Part A|March 8, 2026
VariantMatcher: Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene DiscoveryDarine Villela, Marcelo Szeremeta, Joselito Sobreira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2020
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNAHuiwen Che, Darine Villela, Eftychia Dimitriadou, et al.
International Journal of Legal Medicine|February 28, 2025
Uniparental disomy (UPD) as the cause of inconsistencies in parentage tests: report of maternal UPD of chromosome 2 and review of the literatureCintia Fridman, João Paulo Gervasio Batista, Pamela Viana Bianchini, et al.
Biomed Research International|August 29, 2013
Modulation of pineal melatonin synthesis by glutamate involves paracrine interactions between pinealocytes and astrocytes through NF-κB activationDarine Villela, Victoria Fairbanks Atherino, Larissa de Sá Lima, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2019
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screeningNathalie Brison, Jazz Storms, Darine Villela, et al.
Clinical Chemistry|November 3, 2020
Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant PopulationsLiesbeth Lenaerts, Huiwen Che, Nathalie Brison, et al.
International Journal of Obesity (2005)|May 21, 2022
Genetic investigation of syndromic forms of obesityLaura Machado Lara Carvalho, Carla Sustek D'Angelo, Darine Villela, et al.
Breast Cancer Research and Treatment|March 7, 2023
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in BrazilPatricia Mazzonetto, Fernanda Milanezi, Mariana D'Andrea, et al.
Molecular Genetics and Metabolism Reports|June 27, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in BrazilCamila Mendes, Thereza Loureiro, Darine Villela, et al.
Annals of Human Genetics|October 9, 2023
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical settingPatricia C Mazzonetto, Darine Villela, Silvia Souza da Costa, et al.
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