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Montserrat Pauta

15PUBLICATIONS
42CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeonatologyEpidemiological methodsGene mappingCell and nuclear division
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Journal

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

Frequent Collaborators

11 joint publications

Antoni Borrell

6 joint publications

Raigam Jafet Martinez-Portilla

2 joint publications

Eva Meler

2 joint publications

Alfons Nadal

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