CV Lattes
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Universidade de São Paulo (USP). Instituto de Biociências (IB) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Senior Associate Professor from the Department of Genetics and Evolutionary Biology of the Bioscience Institute, University of São Paulo. Post-doctorated by Johns Hopkins University, she was Associated Professor at Leiden University Medical Center, The Netherlands. She is experience in human genetics and cytogenetics, working mostly with research and diagnosis of intellectual disability and congenital anomalies. (Source: Lattes Curriculum)
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Over 7000 rare diseases have been described, approximately 80% of which have genetic etiology. Despite individually rare, such diseases are collectively responsible for 35% of first year deaths. Nevertheless, the molecular-genetic diagnosis is achieved in less than 50% of the cases. Structural variants (SV) are frequent in the human genome, resulting in phenotypic diversity and representi…
The Human Genome Research Center (HGRC-CEPID I) was initiated in 2000 with the main goal of increasing our basic knowledge and diagnosis of prevalent genetic diseases in the Brazilian population. The HGRC concentrated largely on Mendelian disorders, mainly neuromuscular, craniofacial, and mental disability. The scope was expanded in 2005 by incorporating stem-cell research, both as a too…
Comparative genomic hybridization to arrays, or array-CGH (aCGH) is a technique that allows genome-wide investigation of gains and losses of DNA sequences with a resolution at least 2 order of magnitude higher than classical cytogenetics. We first implemented aCGH at the Institute of Bioscience of University of São Paulo (IBUSP) in 2004 with the support of the CEPID - Human Genome Researc…
Syndromic Obesity is a rare pathology of great phenotypic variability, which is defined by the association of obesity with one or more of the following characteristics: neuropsychomotor developmental delay, dysmorphic features and/or congenital malformations. Unfortunately, most cases of Syndromic Obesity do not have their genetic origin elucidated. Objectives: Identify candidate genetic …
In 1997, Dennis Lo and colleagues described the presence of free fetal DNA (ffDNA) in maternal plasma for the first time. Nearly ten years have passed since two independent groups proved that even with a small fraction of fetal DNA in the maternal bloodstream it is possible to detect, through next generation sequencing, aneuploidy fetuses early in pregnancy. Non-invasive prenatal test (NI…
During embryonic development, an anomalous signal may result in modifications or impairment of cell differentiation and maturation. Such molecular failures during morphogenesis may be points of initiation of childhood tumors, defined as tumors originating in the primary cells that have suffered genetic mutations. Hepatoblastoma (HB) is the most common liver cancer in children and adolesce…
(Only some records are available in English at this moment)
The introduction of cell-free DNA (cfDNA) screening for the most common fetal aneuploidies (trisomy 21, 18 and 13) has impacted prenatal testing, and is rapidly changing the standard care in obstetrics. The term NIPT (Non-Invasive Prenatal Testing) has been used to refer to this test and became very recognized. NIPT has been reducing the need for invasive procedures and the associated ris…
Germline mutations of the DNA mismatch repair genes, MLH1 and MSH2, are the major cause of Lynch syndrome, characterized by a predisposition to the development of microsatellite unstable colorectal, endometrial and additional cancers below 50 years of age. Mutations of the minor mismatch repair genes MSH6 and PMS2 occur more rarely. However, approximately one third of cases with a clinica…
| 2 / 2 | Ongoing grants |
| 2 / 2 | Completed research grants |
| 7 / 7 | Completed scholarships in Brazil |
| 3 / 2 | Completed scholarships abroad |
| 14 / 13 | All research grants and scholarships |
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