Ruben Fuente-La
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 12 publications
Parkinsonism in KMT5B-Related Disorders: Expanding the Spectrum.
Journal: Movement disorders clinical practice
Published: January 23, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 11, 2025
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 05, 2025
Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B.
Journal: Seizure
Published: May 05, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Journal: Science advances
Published: March 10, 2023
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Journal: Neuropediatrics
Published: September 20, 2022
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Journal: European journal of medical genetics
Published: October 24, 2021
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Journal: Neurogenetics
Published: April 03, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Journal: Genes
Published: February 25, 2021
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
Journal: European journal of human genetics : EJHG
Published: September 17, 2020
Showing 1-12 of 12
Last Updated: 09/26/2026