Maria Jose Barrero

9PUBLICATIONS
56CO-AUTHORS
Epidemiological modellingDevelopmental genetics (incl. sex determination)Elemental semiconductorsEpigenetics (incl. genome methylation and epigenomics)Cancer genetics
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Publications (9)

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Apr 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Amélie Cordovado, Yvan Hérenger, Coline Cormier

|Aug 12, 2023
Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.

Sara Pérez-Luz, Jaanam Lalchandani, Nerea Matamala

|Aug 26, 2022
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.

Beatriz Baladron, Lidia M Mielu, Estrella López-Martín

|Aug 23, 2022
Epigenomic Approaches for the Diagnosis of Rare Diseases.

Beatriz Martinez-Delgado, Maria J Barrero

|Apr 14, 2022
Nutritional Epigenetics in Cancer.

Maria J Barrero, Paloma Cejas, Henry W Long

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Frequent Collaborators

5 joint publications

Beatriz Martinez-Delgado

3 joint publications

Estrella López-Martín

2 joint publications

Javier Alonso

2 joint publications

Eva Bermejo-Sánchez