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Rubén Pérez de la Fuente

Observed names: Pérez de la Fuente, Rubén, R. Pérez de la Fuente, Ruben Pérez de la Fuente
ORCID: 0000-0002-2749-2709
Observed ORCID: 0000-0002-2749-2709
OpenAlex ID: A5064824455
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
2021 · Ana Arteche-López, Maria José Gómez Rodríguez, et al. · Genes · 53
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Exploring genotype–phenotype correlations in glutaric aciduria type 1
2023 · Imke M. E. Schuurmans, Bianca Dimitrov, et al. · Journal of Inherited Metabolic Disease · 24
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New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene
2022 · Ana Arteche‐López, Almudena Avila‐Fernandez, et al. · Clinical Genetics · 23
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2
2021 · A. Arteche-López, MI. Álvarez-Mora, et al. · European Journal of Human Genetics · 21
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
2023 · Sarah E. Sheppard, Laura Bryant, et al. · Science Advances · 17
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
2021 · Juan F. Quesada-Espinosa, Lucía Garzón-Lorenzo, et al. · Neurogenetics · 14
Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B
2023 · Sara Bellido-Cuéllar, Rubén Pérez de la Fuente, et al. · Seizure · 7
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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
2022 · Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, et al. · Genes · 6
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Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome
2025 · Laura Trujillano, Irene Valenzuela, et al. · Clinical Genetics · 5
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Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
2022 · Emma Soengas-Gonda, Rubén Pérez de la Fuente, et al. · Neuropediatrics · 5
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement
2026 · Valentina Galassi Deforie, Reza Maroofian, et al. · Genetics in Medicine · 3
Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes
2023 · Juan Alcalá Torres, Rubén Pérez de la Fuente, et al. · Revista de Neurología · 2
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Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET
2026 · Yuwei Shi, Ananilia Silva, et al. · Genetics in Medicine
Parkinsonism in KMT5B ‐Related Disorders: Expanding the Spectrum
2026 · Pablo Rábano‐Suárez, Álvaro Sánchez‐Ferro, et al. · Movement Disorders Clinical Practice
Author response for "Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome"
2024 · Laura Trujillano, Irene Valenzuela, et al.
20325. Arteriopatía Relacionada Con Catepsina-a Asociada a Ictus Y Leucoencefalopatía (carasal): Descripción De Casos Y Revisión De La Literatura
2024 · M. González Sánchez, M. Muñoz García, et al. · Neurology Perspectives
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling
2022 · Irene Hidalgo Mayoral, Antonio Martínez-Salio, et al. · European Journal of Medical Genetics
Prioritization of exome variants through an automatic system using HPO terms
2021 · Diego Tuñón Le Poultel, José Miguel Lezana Rosales, et al. · Revista de Medicina de Laboratorio
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Priorización de variantes de exoma mediante un sistema automático que emplea términos HPO
2021 · José Miguel Lezana Rosales, Diego Tuñon Le Poultel, et al. · Revista de Medicina de Laboratorio
Works count: 20
Citation count: 180
H-index: 7
I10-index: 6
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