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Lucas Santos de Santana

Observed names: L.S. Santana, Lucas S Santana, Lucas S de Santana, Lucas S. Santana, Lucas S. de Santana, Lucas Santana, Lucas Santos Santana, Lucas de Santana, Santana, Lucas Santos De, Santana, Lucas Santos de
ORCID: 0000-0003-0428-2386
Observed ORCID: 0000-0003-0428-2386
OpenAlex ID: A5015066019
Targeted sequencing identifies novel variants in common and rare MODY genes
2019 · Lucas S. de Santana, Lilian A. Caetano, et al. · Molecular Genetics & Genomic Medicine · 37
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PDX1 ‐ MODY and dorsal pancreatic agenesis: New phenotype of a rare disease
2017 · L.A. Caetano, L.S. Santana, et al. · Clinical Genetics · 36
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Insights from the genetic characterization of central precocious puberty associated with multiple anomalies
2020 · Ana Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, et al. · Human Reproduction · 33
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing
2018 · Rafael A Carvalho, Betsaida Urtremari, et al. · European Journal of Endocrinology · 24
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred
2018 · Renan Magalhães Montenegro, Aline Dantas Costa-Riquetto, et al. · Frontiers in Endocrinology · 24
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Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism
2020 · Marcela Rassi-Cruz, Andrea G Maria, et al. · Endocrine Related Cancer · 21
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Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome
2022 · Lucas S. Santana, Augusto G. Guimaraes, et al. · Frontiers in Endocrinology · 20
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Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families
2017 · L.S. Santana, L.A. Caetano, et al. · Clinical Genetics · 20
Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis
2020 · Manuela G M Rocha-Braz, Monica M França, et al. · Journal of the Endocrine Society · 18
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Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
2019 · Marilena Nakaguma, Fernanda A Correa, et al. · Endocrine Connections · 16
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Evaluation of SHOX defects in the era of next‐generation sequencing
2019 · Mariana F.A. Funari, Juliana S. de Barros, et al. · Clinical Genetics · 12
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Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
2019 · Renata P. Dotto, Lucas Santos de Santana, et al. · Archives of Endocrinology and Metabolism · 12
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Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma
2023 · Gustavo F C Fagundes, Felipe Freitas-Castro, et al. · The Journal of Clinical Endocrinology & Metabolism · 10
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Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort
2024 · Gustavo F C Fagundes, Felipe Freitas-Castro, et al. · European Journal of Endocrinology · 9
The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age
2023 · Augusto Cezar Santomauro, Áurea Luiza Fernandes Magalhães, et al. · Diabetology & Metabolic Syndrome · 9
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Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment
2022 · Pedro Campos Franco, Lucas Santos de Santana, et al. · Diabetes Research and Clinical Practice · 9
Efficacy of Oral Furosemide Test for Primary Aldosteronism Diagnosis
2023 · Thais C Freitas, Ana Alice W Maciel, et al. · Journal of the Endocrine Society · 8
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Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
2022 · Aline Dantas Costa‐Riquetto, Lucas Santos de Santana, et al. · Clinical Genetics · 8
Genotype-specific neoplastic risk profiles in patients with VHL disease
2025 · Athina Ganner, Alfonso Massimiliano Ferrara, et al. · Endocrine Related Cancer · 6
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
2025 · Eduardo Perrone, Luiza Virmond, et al. · Journal of Human Genetics · 5
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Association Between Papillary Thyroid Cancer and Primary Aldosteronism in Individuals With Hypertension
2024 · Ana Alice W Maciel, Debora L S Danilovic, et al. · The Journal of Clinical Endocrinology & Metabolism · 4
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Three Cases of Carney-Stratakis Syndrome: A Genetically Heterogeneous Disease
2023 · Eduardo C Lobato, Felipe F Castro, et al. · JCEM Case Reports · 3
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SLC25A11, a Novel Gene Associated With Carney-Stratakis Syndrome
2025 · Felipe Freitas-Castro, Lucas S Santana, et al. · Journal of the Endocrine Society · 2
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12510 SLC25A11 As A Novel Gene For Carney-Stratakis Syndrome
2024 · Felipe Freitas-Castro, Lucas Santos Santana, et al. · Journal of the Endocrine Society · 2
Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
2025 · Pedro Campos Franco, Augusto Cezar Santomauro Jr, et al. · Communications Medicine · 1
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Works count: 55
Citation count: 352
H-index: 12
I10-index: 13
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