Montserrat Pauta
15PUBLICATIONS
42CO-AUTHORS
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Publications (15)
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|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 27, 2025
Genome-Wide Cell-Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta-Analysis.Montse Pauta, Raigam J Martinez-Portilla, Ana Cecilia Jara-Ettinger
|Apr 19, 2025
Prenatal FBXL4-Associated Mitochondrial DNA Depletion Syndrome-13: A New Case and Review of the Literature.Andrea Ros, Ivan Hurtado, Élida Vázquez-Méndez
|Dec 06, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.Gillian V Blayney, Eoghan Laffan, Preethi A Jacob
|Mar 04, 2023
Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta-analysis.Montse Pauta, Raigam J Martinez-Portilla, Eva Meler
|Feb 25, 2023
Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non-placental origin.M F Paz Y Miño, M Pauta, E Meler
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Frequent Collaborators
11 joint publications
Antoni Borrell
6 joint publications
Raigam Jafet Martinez-Portilla
2 joint publications
Eva Meler
2 joint publications
Alfons Nadal
2 joint publications
Victoria Ardiles-Ruesjas
2 joint publications
Laia Rodriguez-Revenga
1 joint publications
Aneta Zientalska
1 joint publications
J Miranda
1 joint publications
Gerard Frigola
1 joint publications
Virginia Borobio Florián
