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Camila Simoes

Virtual learning approach to biological engineering courses in Uruguay during COVID-19
2021 · Camila Simoes, Parag Chatterjee, et al. · Higher Education Skills and Work-based Learning · 13
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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease
2021 · Víctor Raggio, Nicolas Dell’Oca, et al. · Human Genomics · 11
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Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report
2022 · Camila Simoes, Martín Graña, et al. · BMC Pediatrics · 7
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Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy
2023 · Víctor Raggio, Martín Graña, et al. · Human Genomics · 6
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Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
2023 · María Noel Spangenberg, Sofía Grille, et al. · Frontiers in Oncology · 5
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Two mutations in theSBDSgene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms
2022 · María Noel Spangenberg, Sofia Grille, et al. · Molecular Case Studies · 5
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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report
2024 · Federico Baltar, Camila Simoes, et al. · Frontiers in Pediatrics · 4
Virtual Learning Approach Toward Introductory Biological Engineering Course in Uruguay During COVID-19
2020 · Parag Chatterjee, Andreína Tesis, et al. · EAI Endorsed Transactions on Pervasive Health and Technology · 3
Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report
2025 · Víctor Raggio, Andrea Rey, et al. · Journal of Medical Case Reports · 1
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C3 Glomerulonephritis in A20 Haploinsufficiency and TREX1 Mutation: A Case Report
2026 · Valeria Cocchi, Víctor Raggio, et al. · Kidney International Case Reports
Implementation of a medical genomics program for rare diseases in Uruguay
2026 · Camila Simoes, María Fernanda Domínguez, et al. · Orphanet Journal of Rare Diseases
Additional file 1 of Implementation of a medical genomics program for rare diseases in Uruguay
2026 · Camila Simoes, María Fernanda Domínguez, et al. · Figshare
Additional file 2 of Implementation of a medical genomics program for rare diseases in Uruguay
2026 · Camila Simoes, María Fernanda Domínguez, et al. · Figshare
Additional file 3 of Implementation of a medical genomics program for rare diseases in Uruguay
2026 · Camila Simoes, María Fernanda Domínguez, et al. · Figshare
Additional file 4 of Implementation of a medical genomics program for rare diseases in Uruguay
2026 · Camila Simoes, María Fernanda Domínguez, et al. · Figshare
WCN24-864 Alport Syndrome: genetic variants, phenotypes of kidney disease and association with End Stage Kidney Disease in a Uruguayan Cohort
2024 · Federico Yandian, Lucía Spangenberg, et al. · Kidney International Reports
Data and knowledge infrastructures for scientific research on humans and health in Uruguay: an experience report on a critical constructive design process
2022 · Horacio Botti, Hugo Naya, et al. · Informatio
Germline mutations in ATM, CHEK2, and other known/potential breast cancer susceptibility genes among BRCA-negative Uruguayan patients with breast cancer.
2022 · Lucia Beatriz Delgado, Alfonso Cayota, et al. · Journal of Clinical Oncology
Works count: 28
Citation count: 55
H-index: 5
I10-index: 2
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