Irene Madrigal

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 49 publications

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources.

Journal: International journal of molecular sciences

Published: June 04, 2026

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Journal: Frontiers in genetics

Published: May 27, 2026

Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families.

Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families.

Journal: European journal of internal medicine

Published: April 28, 2026

The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.

The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: October 20, 2025

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Journal: Cellular and molecular neurobiology

Published: August 05, 2025

Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis.

Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis.

Journal: Acta neuropathologica communications

Published: November 25, 2024

MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.

MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.

Journal: Neuropathology and applied neurobiology

Published: November 02, 2024

Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women.

Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women.

Journal: Journal of clinical medicine

Published: July 09, 2024

A novel NONO nonsense variant in a fetus with renal abnormalities.

A novel NONO nonsense variant in a fetus with renal abnormalities.

Journal: Prenatal diagnosis

Published: October 26, 2023

Editorial for the Molecular Mechanisms in Neurodevelopmental Disorders Special Issue.

Editorial for the Molecular Mechanisms in Neurodevelopmental Disorders Special Issue.

Journal: Genes

Published: July 03, 2023

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Journal: Genes

Published: February 20, 2023

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.

Journal: Frontiers in aging neuroscience

Published: October 24, 2022

Showing 1-12 of 49

Last Updated: 09/26/2026