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Author

Jorge Pinto Basto

Observed names: Basto, Jorge Pinto, Jorge Basto, Jorge P Basto
Institution: Centogene (Germany)
ORCID: 0000-0002-5146-613X
Observed ORCID: 0000-0002-5146-613X
OpenAlex ID: A5032228656
Heterozygous variants in SPTBN1 cause intellectual disability and autism
2021 · Jill A. Rosenfeld, Rui Xiao, et al. · American Journal of Medical Genetics Part A · 37
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
2023 · Pilar Guatibonza Moreno, Luba M. Pardo, et al. · European Journal of Human Genetics · 23
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
2023 · Rauan Kaiyrzhanov, Aboulfazl Rad, et al. · Brain · 22
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DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine
2017 · Mariana Santos, Simão Cruz, et al. · Neuromuscular Disorders · 13
A Nonsenseporcnmutation in Severe Focal Dermal Hypoplasia With Natal Teeth
2010 · Cristina Dias, Jorge Basto, et al. · Fetal and Pediatric Pathology · 12
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting
2025 · Aida M. Bertoli-Avella, Mandy Radefeldt, et al. · European Journal of Human Genetics · 8
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Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation
2021 · Andreia Carvalho, Joana Nunes, et al. · Neurological Sciences · 5
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity
2025 · Aida M Bertoli-Avella, Christian A Ganoza, et al. · Journal of Medical Genetics · 4
At a glance: The largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
2023 · Peter Bauer, Luba M. Pardo, et al. · Molecular Genetics and Metabolism · 4
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing
2023 · Emir Zonic, Mariana Ferreira, et al. · Genetics in Medicine Open · 3
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A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease
2025 · Tobias Boettcher, Christian Beetz, et al. · Neurology Genetics · 2
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FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
2025 · Navin B. Ramakrishna, Umar Bin Mohamad Sahari, et al. · The American Journal of Human Genetics · 2
P643: Repeat expansion detection in Huntington disease by whole genome sequencing
2026 · Jorge Pinto Basto, Eleni Perraki, et al. · Genetics in Medicine Open
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The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
2025 · Johanna R Roller, Ashraf Yahia, et al. · Brain
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
2024 · Rauan Kaiyrzhanov, Aboulfazl Rad, et al. · Newcastle University ePrints (Newcastle Univesity)
P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort
2024 · Tobias Boettcher, Christian Beetz, et al. · Genetics in Medicine Open
Reader Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis
2023 · Peter Bauer, Jorge Pinto Basto, et al. · Neurology
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Distal Involvement and Subsarcolemmal Minicore-Like Areas in a Case of POGLUT1-Associated Myopathy
2022 · Maria João Malaquias, Miguel Mendonça Pinto, et al. · Sinapse
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OP033: An integrated multiomic panel as an excellent tool for the genetic diagnosis of metabolic diseases: Our first 3,720 patients
2022 · Ligia Almeida, Catarina Pereira, et al. · Genetics in Medicine
Works count: 21
Citation count: 136
H-index: 6
I10-index: 5
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