Almudena Fernandez-Avila

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 63 publications

Clinical and molecular features of PRCD-associated retinopathy.

Clinical and molecular features of PRCD-associated retinopathy.

Journal: Acta ophthalmologica

Published: May 07, 2026

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Journal: Prenatal diagnosis

Published: December 04, 2025

Late-Onset, Slowly Progressive Pure Cerebellar Ataxia Associated with a Homozygous Missense Variant in PNPLA6.

Late-Onset, Slowly Progressive Pure Cerebellar Ataxia Associated with a Homozygous Missense Variant in PNPLA6.

Journal: Movement disorders clinical practice

Published: July 10, 2025

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Journal: Clinical genetics

Published: January 07, 2025

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Journal: American journal of human genetics

Published: September 12, 2024

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Journal: International journal of molecular sciences

Published: February 01, 2024

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.

Journal: Frontiers in genetics

Published: June 03, 2023

KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.

KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.

Journal: The British journal of ophthalmology

Published: March 27, 2023

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Journal: American journal of ophthalmology

Published: January 27, 2023

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.

Journal: European journal of ophthalmology

Published: November 16, 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.

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.

Journal: Clinical genetics

Published: July 26, 2022

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

Journal: International journal of molecular sciences

Published: June 23, 2022

Showing 1-12 of 63

Last Updated: 09/26/2026