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Luiz Gustavo Dufner‐Almeida

Observed names: Luiz G. Dufner Almeida, Luiz Gustavo D. Almeida, Luiz Gustavo De Almeida, Luiz Gustavo Dufner de Almeida, Luiz Gustavo Dufner-Almeida, Luiz Gustavo de Almeida
Institution: DASA (Brazil)
ORCID: 0000-0003-0831-0380
Observed ORCID: 0000-0003-0831-0380
OpenAlex ID: A5058476832
Understanding human DNA variants affecting pre-mRNA splicing in the NGS era
2019 · Luiz Gustavo Dufner-Almeida, Ramon Torreglosa do Carmo, et al. · Advances in genetics · 49
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
2019 · Luiz G. Dufner Almeida, Santoesha Nanhoe, et al. · Human Mutation · 32
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Stem-cell therapy for hearing loss: are we there yet?
2019 · Luiz Gustavo Dufner-Almeida, Dayane Bernardino da Cruz, et al. · Brazilian Journal of Otorhinolaryngology · 30
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Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting
2023 · Patricia C. Mazzonetto, Darine Villela, et al. · Annals of Human Genetics · 20
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A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis
2023 · Rodrigo Guarischi-Sousa, José Eduardo Kroll, et al. · Diagnostics · 12
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Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex
2024 · Luiz Gustavo Dufner-Almeida, Laís F. M. Cardozo, et al. · Genes · 9
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Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries
2024 · Patricia C. Mazzonetto, Darine Villela, et al. · American Journal of Medical Genetics Part A · 9
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Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil
2024 · Laís Faria Masulk Cardozo, Mariana Richartz Schwind, et al. · Arquivos de Neuro-Psiquiatria · 7
A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC)
2024 · Beatriz Azevedo Nunes, Ana Karolina Ferreira Gonçalves Romano, et al. · Anais Brasileiros de Dermatologia · 4
Unilateral giant renal angiomyolipoma and pulmonar lymphangioleiomyomatosis
2013 · Fernando Peixoto Ferraz de Campos, Cristiane Rúbia Ferreira, et al. · Autopsy and Case Reports · 4
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HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad’s myChoice®, SOPHiA GENETICS® SOPHiA Homologous Recombination Solution and AmoyDx® HRD Focus Panel
2023 · Rodrigo Guarischi-Sousa, José Eduardo Kroll, et al. · medRxiv · 3
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Globalising the access to advanced molecular diagnostics of CNS tumors: Experience of the Molecular Neuro-Pathology (MNP) Outreach Consortium
2026 · Olfat Ahmad, Felipe D’Almeida Costa, et al. · Neuro-Oncology
Stem-cell therapy for hearing loss: are we there yet?
2021 · Luiz Gustavo Dufner-Almeida, Dayane Bernardino Da Cruz, et al. · Figshare
Works count: 13
Citation count: 179
H-index: 7
I10-index: 5
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