Anna FF Benedetti

@usp.br

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

Anna FF Benedetti


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https://researchid.co/annabenedetti

RESEARCH INTERESTS

molecular biology
346

Scholar Citations

10

Scholar h-index

11

Scholar i10-index

RECENT SCHOLAR PUBLICATIONS

  • Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development
    NL Gomes, RL Batista, MY Nishi, AM Lerário, TE Silva, ...
    The Journal of Clinical Endocrinology & Metabolism 107 (5), e1797-e1806 , 2022
    2022
    Citations: 54
  • Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities
    M Griffero, AFF Benedetti, M Pérez, L Carvalho, A Jorge, AC Latronico, ...
    Journal of Pediatric Endocrinology and Metabolism , 2022
    2022
    Citations: 1
  • Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
    JH Labello, AFF Benedetti, BV Azevedo, AAL Jorge, VAS Cescato, ...
    Arch. Endocrinol. Metab., - , 2022
    2022
    Citations: 6
  • Variants in 46, XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
    BL Braga, NL Gomes, MY Nishi, BL Freire, RL Batista, JADF Junior, ...
    Sexual Development 16 (1), 27-33 , 2022
    2022
    Citations: 12
  • Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations (vol 106, pg 1041, 2021)
    CE Seraphim, APM Canton, L Montenegro, MR Piovesan, DB Macedo, ...
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 106 (11), E4794-E4794 , 2021
    2021
    Citations: 67
  • Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
    M Nakaguma, NGBP Ferreira, AFF Benedetti, MC Madi, JM Silva, JZ Li, ...
    Genes 12 (8), 1128 , 2021
    2021
    Citations: 3
  • Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas
    J Petenuci, AG Guimaraes, GFC Fagundes, AFF Benedetti, ACF Afonso, ...
    Clinical Endocrinology 95 (1), 117-124 , 2021
    2021
    Citations: 20
  • The phenotypic spectrum associated with OTX2 mutations in humans
    LC Gregory, P Gergics, M Nakaguma, H Bando, G Patti, MJ McCabe, ...
    European Journal of Endocrinology 185 (1), 121-135 , 2021
    2021
    Citations: 39
  • SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas
    J Petenuci, GFC Fagundes, AFF Benedetti, AG Guimaraes, ACF Afonso, ...
    Endocrine 72 (2), 586-590 , 2021
    2021
    Citations: 10
  • Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations
    CE Seraphim, APM Canton, L Montenegro, MR Piovesan, DB Macedo, ...
    The Journal of Clinical Endocrinology & Metabolism 106 (4), 1041-1050 , 2021
    2021
    Citations: 67
  • Comparative Exome Capture Methods to Investigate Genes Involved in Hypopituitarism in a Brazilian Population
    AFF Benedetti, Q Ma, J Li, AB Ozel, S Camper, BB Mendonca, AM Lerario, ...
    2021
  • Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism
    M Rassi-Cruz, AG Maria, FR Faucz, E London, LAP Vilela, LS Santana, ...
    Endocrine-Related Cancer 28 (1), 1-13 , 2021
    2021
    Citations: 22
  • Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. Genes 2021, 12, 1128
    M Nakaguma, N Ferreira, AFF Benedetti, MC Madi, JM Silva, JZ Li, Q Ma, ...
    s Note: MDPI stays neutral with regard to jurisdictional claims in published … , 2021
    2021
  • Corrigendum to:“Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations”
    L Montenegro, MR Piovesan, DB Macedo, M Cunha, A Guimaraes, ...
    The Journal of Clinical Endocrinology & Metabolism 106 (11), e4794-e4794 , 2021
    2021
    Citations: 67
  • SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo
    AM Lerario, DR Mohan, LR Montenegro, MFA Funari, MY Nishi, ...
    Clinics 75 , 2020
    2020
    Citations: 35
  • MON-202 Germline SDHB Exon 1 Deletion Is Associated with Absence of 131 I-metaiodobenzylguanidine (MIBG) Uptake in Malignant Paragangliomas
    J Petenuci, GFC Fagundes, FT Motta, ALF Magalhães, AG Guimaraes, ...
    Journal of the Endocrine Society 4 (Supplement_1), MON-202 , 2020
    2020
  • SUN-710 Custom Panel to Diagnosis Genetic Endocrine Disorders in a Tertiary Academic Hospital
    LC Cardoso, AM Narcizo, AFF Benedetti, AAL Jorge, BL Braga, ...
    Journal of the Endocrine Society 4 (Supplement_1), SUN-710 , 2020
    2020
  • OR27-01 Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46, XY Differences/Disorders of Sex Development (DSD)
    NLR Almeida Gomes, RL Batista, MY Nishi, AM Lerario, TE Silva, ...
    Journal of the Endocrine Society 4 (Supplement_1), OR27-01 , 2020
    2020
  • SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism
    R Kertsz, N Ferreira, JL Madeira, AFF Benedetti, B Azevedo, ...
    Journal of the Endocrine Society 4 (Supplement_1), SUN-723 , 2020
    2020
  • SAT-295 An Extremely Rare Novel Missense Variant C. 912G≫ A; P. M304I in SOX3 Gene Is Responsible for X-Linked GH Deficiency in a Brazilian Boy Without Mental Retardation
    AFF Benedetti, JM Silva, IP Biscotto, NP Ferreira, IJ Arnhold, ...
    Journal of the Endocrine Society 4 (Supplement_1), SAT-295 , 2020
    2020

MOST CITED SCHOLAR PUBLICATIONS

  • Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations (vol 106, pg 1041, 2021)
    CE Seraphim, APM Canton, L Montenegro, MR Piovesan, DB Macedo, ...
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 106 (11), E4794-E4794 , 2021
    2021
    Citations: 67
  • Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations
    CE Seraphim, APM Canton, L Montenegro, MR Piovesan, DB Macedo, ...
    The Journal of Clinical Endocrinology & Metabolism 106 (4), 1041-1050 , 2021
    2021
    Citations: 67
  • Corrigendum to:“Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations”
    L Montenegro, MR Piovesan, DB Macedo, M Cunha, A Guimaraes, ...
    The Journal of Clinical Endocrinology & Metabolism 106 (11), e4794-e4794 , 2021
    2021
    Citations: 67
  • Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development
    NL Gomes, RL Batista, MY Nishi, AM Lerário, TE Silva, ...
    The Journal of Clinical Endocrinology & Metabolism 107 (5), e1797-e1806 , 2022
    2022
    Citations: 54
  • The phenotypic spectrum associated with OTX2 mutations in humans
    LC Gregory, P Gergics, M Nakaguma, H Bando, G Patti, MJ McCabe, ...
    European Journal of Endocrinology 185 (1), 121-135 , 2021
    2021
    Citations: 39
  • HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype
    Q Fang, AFF Benedetti, Q Ma, L Gregory, JZ Li, M Dattani, ...
    Clinical endocrinology 85 (3), 408-414 , 2016
    2016
    Citations: 39
  • SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo
    AM Lerario, DR Mohan, LR Montenegro, MFA Funari, MY Nishi, ...
    Clinics 75 , 2020
    2020
    Citations: 35
  • Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism
    M Rassi-Cruz, AG Maria, FR Faucz, E London, LAP Vilela, LS Santana, ...
    Endocrine-Related Cancer 28 (1), 1-13 , 2021
    2021
    Citations: 22
  • Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas
    J Petenuci, AG Guimaraes, GFC Fagundes, AFF Benedetti, ACF Afonso, ...
    Clinical Endocrinology 95 (1), 117-124 , 2021
    2021
    Citations: 20
  • Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations …
    JLO Madeira, MY Nishi, M Nakaguma, AF Benedetti, IP Biscotto, ...
    Clinical Endocrinology 87 (6), 725-732 , 2017
    2017
    Citations: 19
  • Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
    M Nakaguma, FA Correa, LS Santana, AFF Benedetti, RV Perez, ...
    Endocrine Connections 8 (5), 590-595 , 2019
    2019
    Citations: 18
  • Variants in 46, XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
    BL Braga, NL Gomes, MY Nishi, BL Freire, RL Batista, JADF Junior, ...
    Sexual Development 16 (1), 27-33 , 2022
    2022
    Citations: 12
  • SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas
    J Petenuci, GFC Fagundes, AFF Benedetti, AG Guimaraes, ACF Afonso, ...
    Endocrine 72 (2), 586-590 , 2021
    2021
    Citations: 10
  • Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
    JH Labello, AFF Benedetti, BV Azevedo, AAL Jorge, VAS Cescato, ...
    Arch. Endocrinol. Metab., - , 2022
    2022
    Citations: 6
  • Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
    M Nakaguma, NGBP Ferreira, AFF Benedetti, MC Madi, JM Silva, JZ Li, ...
    Genes 12 (8), 1128 , 2021
    2021
    Citations: 3
  • Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities
    M Griffero, AFF Benedetti, M Pérez, L Carvalho, A Jorge, AC Latronico, ...
    Journal of Pediatric Endocrinology and Metabolism , 2022
    2022
    Citations: 1
  • SAT-LB58 Molecular Investigation of Recessive Inheritance by Exome Sequencing of Patients With Congenital Hypopituitarism
    NGB Pereira Ferreira, JLO Madeira, R Kertsz, P Gergics, AFF Benedetti, ...
    Journal of the Endocrine Society 4 (Supplement_1), SAT-LB58 , 2020
    2020
    Citations: 1
  • Comparative Exome Capture Methods to Investigate Genes Involved in Hypopituitarism in a Brazilian Population
    AFF Benedetti, Q Ma, J Li, AB Ozel, S Camper, BB Mendonca, AM Lerario, ...
    2021
  • Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum. Genes 2021, 12, 1128
    M Nakaguma, N Ferreira, AFF Benedetti, MC Madi, JM Silva, JZ Li, Q Ma, ...
    s Note: MDPI stays neutral with regard to jurisdictional claims in published … , 2021
    2021
  • MON-202 Germline SDHB Exon 1 Deletion Is Associated with Absence of 131 I-metaiodobenzylguanidine (MIBG) Uptake in Malignant Paragangliomas
    J Petenuci, GFC Fagundes, FT Motta, ALF Magalhães, AG Guimaraes, ...
    Journal of the Endocrine Society 4 (Supplement_1), MON-202 , 2020
    2020