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Luiza do Amaral Virmond

Observed names: Luiza A. Virmond, Luiza Amaral Virmond, Luiza Amaral do Virmond, Luiza Virmond, Luiza do A. Virmond, Virmond, Luiza Do A., Virmond, Luiza do Amaral, do Amaral Virmond, Luiza
ORCID: 0000-0002-0650-9970
Observed ORCID: 0000-0002-0650-9970
OpenAlex ID: A5028880146
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
2020 · Eduardo Perrone, Thiago R. Cavole, et al. · Genetics and Molecular Biology · 15
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Leprosy: A glossary
2014 · Marcos Virmond, Andrzej Grzybowski, et al. · Clinics in Dermatology · 14
Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome
2020 · Eduardo Perrone, Ana Beatriz Alvarez Perez, et al. · American Journal of Medical Genetics Part A · 13
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
2023 · Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, et al. · Human Genomics · 11
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Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes
2022 · Caio Robledo D’ Angioli Costa Quaio, Antonio Victor Campos Coelho, et al. · Frontiers in Genetics · 11
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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review
2021 · Manuella Galvão de Oliveira, Célia Tengan, et al. · European Journal of Medical Genetics · 9
Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review
2019 · Luiza A. Virmond, Cecilia Micheletti, et al. · Blood Coagulation & Fibrinolysis · 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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ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review
2024 · Eduardo Perrone, Antonio Victor Campos Coelho, et al. · American Journal of Medical Genetics Part A · 3
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Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome
2022 · Henrique R. Serigatto, Nancy M. Kokitsu-Nakata, et al. · Clinical Dysmorphology · 3
CNOT1 p. Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus
2024 · Amaro Freire de Queiroz Júnior, Maria Teresa Vieira Sanseverino, et al. · American Journal of Medical Genetics Part A · 2
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Whole Genome Sequencing for the Diagnosis of Rare Disorders
2025 · Antonio Victor Campos Coelho, Rafael Sales de Albuquerque, et al. · medRxiv · 1
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Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome
2023 · Jéssica G.A. Espolaor, Eduardo Perrone, et al. · Clinical Dysmorphology · 1
Supplemental Material for: Diagnostic odyssey in a patient with Incontinentia Pigmenti elucidated by Optical Genome Mapping: a case report
2026 · figshare admin karger, Carolina Gama Nascimento-Vidotia, et al. · Figshare
Diagnostic Odyssey in a Patient with Incontinentia Pigmenti Elucidated by Optical Genome Mapping: A Case Report
2026 · Carolina Gama Nascimento-Vidoti, Luciana Vilela Gomide, et al. · Case Reports in Dermatology
Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants
2026 · Carolina A. Moreno, Marina de França, et al. · Pediatric Research
Genome sequencing for the diagnosis of rare disorders: The Brazilian Rare Genomes Project
2026 · Antonio Victor Campos Coelho, Rafael Sales de Albuquerque, et al. · Human Genetics and Genomics Advances
Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism
2026 · Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, et al. · American Journal of Medical Genetics Part A
Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?
2026 · Henrique Regonaschi Serigatto, Siulan Vendramini-Pittoli, et al. · The Cleft Palate-Craniofacial Journal
Clinical Genetic Aspects
2026 · Nancy Mizue Kokitsu-Nakata, Luiza do Amaral Virmond, et al. · Springer eBooks
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Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses
2026 · Luise Longo Angeloni, Josep Jorente, et al. · Einstein (São Paulo)
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Fissuras craniofaciais raras: uma caracterização clínica
2024 · Luiza do Amaral Virmond
Rare craniofacial clefts: a clinical characterization
2024 · Virmond, Luiza do Amaral · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
Additional file 1 of The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
2023 · Quaio, Caio Robledo D’Angioli Costa, Ceroni, José Ricardo Magliocco, et al. · Figshare
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
2021 · Perrone, Eduardo, Thiago R. Cavole, et al. · Figshare
Works count: 25
Citation count: 94
H-index: 6
I10-index: 5
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