Laia Pedrola - Publications

Clinical Utility of Opportunistic Genome-Wide cfDNA Prenatal Screening in Intermediate-Risk Pregnancies.

Journal: Genes

Published: September 16, 2025

Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: July 07, 2025

Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.

Journal: International journal of molecular sciences

Published: December 27, 2024

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.

Journal: Genes

Published: May 06, 2024

miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks.

Journal: Journal of clinical medicine

Published: April 21, 2021

Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.

Journal: Pediatric research

Published: June 12, 2020

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.

Journal: Pediatric neurology

Published: March 09, 2020

Evolutionary Trends in the Mitochondrial Genome of Archaeplastida: How Does the GC Bias Affect the Transition from Water to Land?

Journal: Plants (Basel, Switzerland)

Published: February 20, 2020

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.

Journal: Ophthalmic genetics

Published: November 23, 2019

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Journal: PloS one

Published: May 18, 2018

Whole Blood Gene Expression Reveals Specific Transcriptome Changes in Neonatal Encephalopathy.

Journal: Neonatology

Published: May 13, 2018

Letter to the Editor.

Journal: Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

Published: May 03, 2018