Bárbara Torres

Institut national de recherche en sciences et technologies du numérique — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index3.0kcitations59works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(11), Congenital heart defects research(10), Genetics and Neurodevelopmental Disorders(7), RNA modifications and cancer(6), Pluripotent Stem Cells Research(5)

Publications59 total

Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A
Stem Cell Research·2025Open Access
Bullous Pemphigoid Secondary to Dipeptidyl Peptidase-4 (DPP4) Inhibitor: A Case Report
Cureus·2025Open Access
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
Pediatric Dermatology·2024Open Access
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region
Stem Cell Research·2024Open Access
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
Genes·2023Open Access
Prenatal <i>CFAP53</i> -related laterality defect: case report and review of the literature
The Journal of Maternal-Fetal & Neonatal Medicine·2023· 2 citedOpen Access
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
European Journal of Human Genetics·2023· 10 citedOpen Access
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells
American Journal of Medical Genetics Part A·2023· 5 cited
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Diagnostics·2022· 4 citedOpen Access
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Cell Death and Disease·2022· 14 citedOpen Access
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
2022Open Access
3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus
Diagnostics·2022· 7 citedOpen Access
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
American Journal of Medical Genetics Part A·2022· 11 citedOpen Access
Abstract PO011: Proteomic profiling of childhood liver cancer: identification of novel diagnostic and prognostic biomarkers
Clinical Cancer Research·2022
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype
Frontiers in Genetics·2022· 5 citedOpen Access
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis
Diagnostics·2022· 6 citedOpen Access
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
International Journal of Molecular Sciences·2022· 7 citedOpen Access
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
2022Open Access
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care
Cancers·2021· 14 citedOpen Access
Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
American Journal of Medical Genetics Part A·2021· 9 citedOpen Access
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Frequent Co-authors

Laura Bernardini(30), Antonio Novelli(10), Daniela Ferrari(8), Angelo L. Vescovi(8), Bruno Dallapiccola(8), Antonio Pizzuti(7), Jessica Rosati(6), Gioia Mastromoro(6), Marina Goldoni(6), Maria Grazia Giuffrida(5), Alessandro De Luca(5), Tommaso Mazza(5), Adela Cañete(5), Daniele Guadagnolo(5), Elena Binda(4), Valentina Guida(4), Filomena Altieri(4), Giuseppe Lamorte(4), Matteo Della Monica(4), Diana Postorivo(4)