Juan Francisco Quesada-Espinosa

10PUBLICATIONS
28CO-AUTHORS
OphthalmologyDevelopmental genetics (incl. sex determination)NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Cell and nuclear division
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Publications (10)

|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

|Oct 26, 2024
Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay.

Ariadna Sánchez Suárez, Beatriz Martínez Menéndez, Eduardo Escolar Escamilla

|Jul 29, 2023
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Adrián González-Quintana, Rocío Garrido-Moraga, Sara I Palencia-Pérez

|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

Rubén Pérez de la Fuente

5 joint publications

Ana Arteche-López

3 joint publications

Maria Isabel Alvarez-Mora

3 joint publications

Jose Miguel Lezana-Rosales