Rubén Pérez de la Fuente

9PUBLICATIONS
89CO-AUTHORS
OphthalmologyDevelopmental genetics (incl. sex determination)GenomicsEpigenetics (incl. genome methylation and epigenomics)Cell and nuclear division
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Publications (9)

|Jun 06, 2026
Parkinsonism in KMT5B-Related Disorders: Expanding the Spectrum.

|Jan 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Laura Trujillano, Irene Valenzuela, Mar Costa-Roger

|Apr 06, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter

|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara

|Oct 17, 2022
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.

Ana Arteche-López, Almudena Avila-Fernandez, Alejandra Damian

|Sep 23, 2022
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.

Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López

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Frequent Collaborators

6 joint publications

Juan Francisco Quesada-Espinosa

4 joint publications

Ana Arteche-López

3 joint publications

Jose Miguel Lezana-Rosales

2 joint publications

Maria Teresa Sánchez-Calvín