Mariana Ferreira de Assis Funari

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

Thaís Kataoka Homma, Bruna Lucheze Freire, Rachel Sayuri Honjo Kawahira et al. · The Journal of Pediatrics · 2019 · 63 citations

Life Sciences, Genetics, Molecular Genetics +14

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development

Nathália Lisboa Gomes, Rafael Loch Batista, Mirian Yumie Nishi et al. · The Journal of Clinical Endocrinology & Metabolism · 2022 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies

Ana Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, Luciana Ribeiro Montenegro et al. · Human Reproduction · 2020 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +17

SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

Antônio Marcondes Lerário, Dipika R. Mohan, Luciana Ribeiro Montenegro et al. · Clinics · 2020 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Nathalia Liberatoscioli Menezes De Andrade, Mariana Ferreira de Assis Funari, Alexsandra C. Malaquias et al. · Endocrine Connections · 2022 · 16 citations · Full text

Life Sciences, Genetics, Pediatrics +17