Estrella López-Martín

11PUBLICATIONS
163CO-AUTHORS
Medical biochemistry - amino acids and metabolitesEpidemiological modellingGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

|Sep 20, 2026
A Variant in Abhydrolase Domain Containing 14A (ABHD14A) and the Suspicion of Aminoacylase 1 (ACY1) Deficiency.

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

|Sep 09, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|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

|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

|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

Pageof 2

Frequent Collaborators

7 joint publications

Beatriz Martínez-Delgado

6 joint publications

Manuel Posada-de-la-Paz

5 joint publications

Anne-Sophie Denommé-Pichon

4 joint publications

Kornelia Ellwanger