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Nuno Maia

Observed names: Maia, N., Maia, Nuno, Maia, Nuno Miguel da Silva, Maia,Nuno
ORCID: 0000-0003-3274-2474
Observed ORCID: 0000-0003-3274-2474
OpenAlex ID: A5010594040
Intellectual disability genomics: current state, pitfalls and future challenges
2021 · Nuno Maia, Maria João Nabais Sá, et al. · BMC Genomics · 101
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Expanding the Pre- and Postnatal Phenotype of WASHC5 and CCDC22 -Related Ritscher-Schinzel Syndromes
2022 · Sabrina Neri, Nuno Maia, et al. · European Journal of Medical Genetics · 17
Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?
2016 · Nuno Maia, Joana R Loureiro, et al. · Journal of Human Genetics · 17
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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
2022 · Nuno Maia, Sven Potelle, et al. · The American Journal of Human Genetics · 15
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Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
2020 · Nuno Maia, Gabriela Soares, et al. · Frontiers in Genetics · 7
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Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies
2018 · Paula Jorge, Elsa Garcia, et al. · BMC Medical Genetics · 7
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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
2022 · Nuno Maia, Nekane Ibarluzea, et al. · American Journal of Medical Genetics Part A · 6
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Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations
2020 · Bárbara Rodrigues, Emídio Vale-Fernandes, et al. · Frontiers in Genetics · 5
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Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
2021 · Cecília Silva, Nuno Maia, et al. · Scientific Reports · 4
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Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
2017 · Nuno Maia, Maria J. Nabais Sá, et al. · Molecular Syndromology · 4
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis
2022 · Bárbara Rodrigues, Ana Gonçalves, et al. · Genes · 2
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Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
2021 · Nuno Maia, Maria João Nabais Sá, et al. · Genes · 2
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Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
2020 · Nuno Maia, Ana Rita Soares, et al. · Clinical Case Reports · 1
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Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
2025 · Jorge Diogo Da Silva, Nuno Maia, et al. · Journal of Medical Genetics
WITHDRAWN: Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
2020 · Cecília Silva, Nuno Maia, et al. · Research Square
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Evidence for an ancient origin of the FGA p.Glu545Val (E526V) amyloidosis-causing mutation endemic in Northern Portugal
2020 · Paulo Costa, P. Lacerda, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
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Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant
2019 · Isabel Tavares, Márcia E. Oliveira, et al. · Amyloid
Relação entre a qualidade seminal e o equilíbrio oxidativo nos espermatozoides
2017 · António Patrício, Daniel Filipe Cruz, et al. · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
Supplementary Material for: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
2017 · Maia, N., Nabais Sá, M.J., et al. · Figshare
Fragile X Syndrome Mosaic Cases Presenting Normal-sized Alleles: How Many Are We Missing?
2016 · Maia, Nuno, Marques, Isabel, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
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Molecular profile of Myotonic Dystrophy type 1 (DM1) in portuguese families
2015 · Oliveira,Márcia E., Maia,Nuno, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
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Advances in fragile-x testing
2014 · Nuno Maia, Isabel Marques, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
Next generation fragile-X testing: getting away from southern blots
2014 · Maia,Nuno, Marques,Isabel, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
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Rastreio de doentes com patologia neuromuscular (ESTUDO ENDOMUS)
2013 · E. Pinto, A. Gonçalves, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
Investigação das causas genéticas de doenças primárias do músculo: a experiência da unidade de genética molecular do CGMJM
2013 · JOÃO MARCOS ALVES MONTEIRO DE OLIVEIRA, E. Vieira, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
Works count: 31
Citation count: 188
H-index: 6
I10-index: 4
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