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Molecular Neurobiology|January 5, 2024
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental DisordersGiovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, et al.
Frontiers in Oncology|May 21, 2020
Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian PatientsTalita Ferreira Marques Aguiar, Maria Prates Rivas, Silvia Costa, et al.
American Journal of Medical Genetics. Part A|June 21, 2017
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twinsFernanda S Jehee, Valdirene T de Oliveira, Juliana Gurgel-Giannetti, et al.
Frontiers in Genetics|May 2, 2022
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair GenesTalita Aguiar, Anne Teixeira, Marília O Scliar, et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine|December 1, 2020
Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylationMaria Prates Rivas, Talita Ferreira Marques Aguiar, Mariana Maschietto, et al.
American Journal of Medical Genetics. Part A|January 23, 2024
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in BrazilMichele P Migliavacca, Joselito Sobreira, Diana Bermeo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Clinical Genetics|June 12, 2025
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian CohortMaísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2022
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndromeCongcong Ma, Na Chen, Angad Jolly, et al.
Iscience|August 12, 2021
Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3XMatheus de Castro Fonseca, Juliana Ferreira de Oliveira, Bruno Henrique Silva Araujo, et al.
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