Maria J. Tiebas-Trujillo

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 54 publications

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

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: December 11, 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

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

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

Five years' experience of the clinical exome sequencing in a Spanish single center.

Five years' experience of the clinical exome sequencing in a Spanish single center.

Journal: Scientific reports

Published: May 19, 2022

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Journal: NPJ genomic medicine

Published: March 28, 2022

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: February 04, 2022

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.

Journal: International journal of molecular sciences

Published: September 29, 2021

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.

Journal: NPJ genomic medicine

Published: July 23, 2021

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Journal: Scientific reports

Published: May 11, 2021

Showing 1-12 of 54

Last Updated: 09/26/2026