Estrella Lopez-Martin
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 20 publications
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Journal: Nature genetics
Published: January 06, 2026
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: November 03, 2025
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
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
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Journal: Movement disorders clinical practice
Published: October 17, 2023
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Journal: Nature medicine
Published: May 01, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Journal: The Journal of clinical investigation
Published: August 31, 2022
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
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2022
Last Updated: 09/26/2026