Maria J. Barrero

Madrid, MD, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 29 publications

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report.

Journal: Frontiers in genetics

Published: March 06, 2026

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Journal: Genome medicine

Published: November 04, 2025

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Journal: Nature communications

Published: September 23, 2025

Translating multi-omics into healthcare: requisites for scalable and equitable implementation.

Translating multi-omics into healthcare: requisites for scalable and equitable implementation.

Journal: Human genomics

Published: June 24, 2025

CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds.

CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds.

Journal: Molecular oncology

Published: July 10, 2024

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Journal: Human mutation

Published: June 30, 2024

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

Journal: Molecular neurobiology

Published: May 06, 2024

Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses.

Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses.

Journal: Frontiers in cellular neuroscience

Published: March 19, 2024

Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal PiM and Deficient PiZ Variants of Alpha-1-antitrypsin.

Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal PiM and Deficient PiZ Variants of Alpha-1-antitrypsin.

Journal: International journal of molecular sciences

Published: June 29, 2023

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.

Journal: International journal of molecular sciences

Published: July 28, 2022

Epigenomic Approaches for the Diagnosis of Rare Diseases.

Epigenomic Approaches for the Diagnosis of Rare Diseases.

Journal: Epigenomes

Published: June 25, 2022

Nutritional Epigenetics in Cancer.

Nutritional Epigenetics in Cancer.

Journal: Advances in nutrition (Bethesda, Md.)

Published: December 04, 2021

Showing 1-12 of 29

Last Updated: 09/26/2026