Laia Rodriguez-Revenga

14PUBLICATIONS
33CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Metabolomic chemistryNeurology and neuromuscular diseasesFoetal development and medicinePredictive and prognostic markers
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Publications (14)

|Jul 28, 2026
Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

|Feb 27, 2026
Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Paula Trilla, Laia Rodriguez-Revenga, Aurora Sanchez

|Jan 28, 2026
Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies.

Laia Rodriguez-Revenga, Victoria Ardiles-Ruesjas, Antoni Borrell

|Jan 04, 2026
Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing-PanelApp R21 and HPO-Driven Versus OMIM-Based Gene Lists.

Victoria Ardiles-Ruesjas, Laia Rodriguez-Revenga, Montse Pauta

|May 14, 2025
Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology.

Irene Paracuellos-Ayala, Giovanni Caruana, Macarena Maria Reyes Ortega

|Aug 29, 2024
Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice.

Inés Agustí, Marta Méndez, Aina Borrás

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Frequent Collaborators

5 joint publications

Irene Madrigal

5 joint publications

Maria Isabel Alvarez-Mora

3 joint publications

Antoni Borrell

3 joint publications

Jose Luis Villanueva-Cañas