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Irene Plaza Pinto

Observed names: I.P. Pinto, Irene P. Pinto, Irene Pinto, PINTO, IRENE PLAZA, irene plaza pinto
ORCID: 0000-0002-5105-7029
Observed ORCID: 0000-0002-5105-7029
OpenAlex ID: A5002803433
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
2022 · Ana Julia da Cunha Leite, Irene Plaza Pinto, et al. · PLoS ONE · 38
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Reward Deficiency Syndrome in Children: Obesity and Metabolic Disorders are Associated with the SNP TaqIA C32806T of the DRD2 Gene
2015 · Renata M. Pinto, Daniela M. e Silva, et al. · Obesity Research - Open Journal · 26
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Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137
2018 · Emília Oliveira Alves Costa, Irene Plaza Pinto, et al. · Scientific Reports · 25
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Genetic markers for improving farm animals
2019 · Rajib Deb, Chandra Sekhar Mukhopadhyay, et al. · Elsevier eBooks · 16
Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil
2014 · Rodrigo Roncato Pereira, Irene Plaza Pinto, et al. · PLoS ONE · 15
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Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
2018 · Irene Plaza Pinto, Lysa Bernardes Minasi, et al. · BMC Pediatrics · 13
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Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil
2017 · Gustavo R. Nascimento, Irene P. Pinto, et al. · Molecular Syndromology · 9
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach
2014 · Irene Plaza Pinto, Lysa Bernardes Minasi, et al. · Molecular Cytogenetics · 9
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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
2022 · Afif Ben-Mahmoud, Kyung Ran Jun, et al. · Frontiers in Molecular Neuroscience · 8
Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation
2020 · Hugo Pereira Leite Filho, Irene Plaza Pinto, et al. · PLoS ONE · 5
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The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology
2016 · Ana Julia Cunha Leite, Irene Plaza Pinto, et al. · BioMed Research International · 4
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Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches
2015 · L.B. Minasi, I.P. Pinto, et al. · Genetics and Molecular Research · 4
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Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
2021 · Cristiano Luiz Ribeiro, Irene P. Pinto, et al. · Scientific Reports · 3
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A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil
2017 · F.G. Reis, I.P. Pinto, et al. · Genetics and Molecular Research · 2
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c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report
2025 · Talyta Alves da Silva Campos, Alex Honda Bernardes, et al. · Journal of Medical Case Reports · 1
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Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability
2024 · Samara Socorro Silva Pereira, Irene Plaza Pinto, et al. · Genetics and Molecular Biology · 1
Longos trechos contíguos em homozigose identificados por análise cromossômica por microarranjos em uma população com deficiência intelectual e transtorno do espectro autista do Brasil Central
2022 · Alice R. de Carvalho Neta, Irene P. Pinto, et al. · Conjecturas · 1
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Research Article High diversity of chromosomal aberrations in a Brazilian myelodysplastic syndrome cohort
2019 · C.L. Ribeiro, I.P. Pinto, et al. · Genetics and Molecular Research · 1
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Tratado de Doenças Raras
2026 · Adriele Souza Alves Monteiro de Almeida, Aline Costa Barcelos, et al.
Genética Nas Doenças Raras
2026 · Irene Plaza Pinto
Somatic copy number variations as long-term genomic biomarkers of ionizing radiation exposure in individuals accidentally exposed to Cesium-137 during the Goiânia radiological accident
2026 · Samara Socorro Silva Pereira, Irene Plaza Pinto, et al. · International Journal of Radiation Biology
Clinical and Genetic Management of a Patient with Rubinstein–Taybi Syndrome Type 1: A Case Report
2025 · Victor Santos, Pedro Souza, et al. · Genes
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Aconselhamento Genético na Síndrome de Klinefelter - um relato de caso
2024 · Camila Prudente Dias, Julia Karoliny Alves Moises, et al. · Revista Sociedade Científica
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Exome sequencing reveals a novel LEPR homozygous mutation in severe early-onset morbid obesity two sisters from a consanguineous family
2024 · Renata Machado Pinto, Lorena de Oliveira Silva, et al. · Caderno Pedagógico
Molecular characterization using exome sequencing of two probands with the undiagnosed developmental delay from Central Brazil
2022 · Irene Plaza Pinto, Ana Júlia Cunha Leite, et al. · Conjecturas
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Works count: 42
Citation count: 181
H-index: 8
I10-index: 6
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