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Anna FF Benedetti

Bioinformatician SELA · Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo

https://researchid.co/annabenedetti
@usp.br
346Google Scholar Citations
10Google Scholar h-index
11Google Scholar i10-index

Research Interests

molecular biology

Recent Google Scholar Publications

  1. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development
    The Journal of Clinical Endocrinology & Metabolism 107 (5), e1797-e1806 , 2022, 2022 | Citations: 54.0
  2. Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities
    Journal of Pediatric Endocrinology and Metabolism , 2022, 2022 | Citations: 1.0
  3. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
    Arch. Endocrinol. Metab., - , 2022, 2022 | Citations: 6.0
  4. Variants in 46, XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
    Sexual Development 16 (1), 27-33 , 2022, 2022 | Citations: 12.0
  5. Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations (vol 106, pg 1041, 2021)
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 106 (11), E4794-E4794 , 2021, 2021 | Citations: 67.0

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