Barbara Torres - Publications

Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant.

Journal: Stem cell research

Published: April 24, 2026

Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A.

Journal: Stem cell research

Published: July 25, 2025

Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

Journal: Stem cell research

Published: July 04, 2024

A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.

Journal: Pediatric dermatology

Published: February 21, 2024

Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.

Journal: Genes

Published: October 20, 2023

Prenatal CFAP53-related laterality defect: case report and review of the literature.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: April 11, 2023

Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

Journal: Diagnostics (Basel, Switzerland)

Published: November 04, 2022

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.

Journal: Cell death & disease

Published: September 15, 2022

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Journal: American journal of medical genetics. Part A

Published: August 22, 2022

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Journal: European journal of human genetics : EJHG

Published: August 19, 2022

3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.

Journal: Diagnostics (Basel, Switzerland)

Published: August 12, 2022

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.

Journal: Diagnostics (Basel, Switzerland)

Published: April 30, 2022