All Stories

  1. One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study

    Article • Clinica Chimica Acta, January 2024, Elsevier

    MD, PhD Valeria D'Argenio

  2. The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data

    Article • Genes, August 2023, MDPI AG

    MD, PhD Valeria D'Argenio

  3. Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete

    Article • International Journal of Molecular Sciences, July 2023, MDPI AG

    MD, PhD Valeria D'Argenio

  4. Metagenomics Reveals Specific Microbial Features in Males with Semen Alterations

    Article • Genes, June 2023, MDPI AG

    MD, PhD Valeria D'Argenio

  5. A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis

    Article • International Journal of Molecular Sciences, March 2023, MDPI AG

    MD, PhD Valeria D'Argenio

  6. Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

    Article • Biomolecules, October 2022, MDPI AG

    MD, PhD Valeria D'Argenio

  7. Gut Microbiome and Mycobiome Alterations in an In Vivo Model of Alzheimer’s Disease

    Article • Genes, August 2022, MDPI AG

    MD, PhD Valeria D'Argenio

  8. Endosomal trafficking and related genetic underpinnings as a hub in Alzheimer's disease

    Article • Journal of Cellular Physiology, August 2022, Wiley

    MD, PhD Valeria D'Argenio

  9. Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy

    Article • Frontiers in Medicine, August 2022, Frontiers

    MD, PhD Valeria D'Argenio

  10. D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans

    Article • Translational Psychiatry, August 2022, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  11. Modulation of Gut Microbiota and Neuroprotective Effect of a Yeast-Enriched Beer

    Article • Nutrients, June 2022, MDPI AG

    MD, PhD Valeria D'Argenio

  12. Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment

    Article • Genes, April 2022, MDPI AG

    MD, PhD Valeria D'Argenio

  13. Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report

    Article • Medicina, April 2022, MDPI AG

    MD, PhD Valeria D'Argenio

  14. Methylome Analysis in Nonfunctioning and GH-Secreting Pituitary Adenomas

    Article • Frontiers in Endocrinology, March 2022, Frontiers

    MD, PhD Valeria D'Argenio

  15. Current Updates on Expanded Carrier Screening: New Insights in the Omics Era

    Article • Medicina, March 2022, MDPI AG

    MD, PhD Valeria D'Argenio

  16. Activation of Non-Canonical Autophagic Pathway through Inhibition of Non-Integrin Laminin Receptor in Neuronal Cells

    Article • Cells, January 2022, MDPI AG

    MD, PhD Valeria D'Argenio

  17. The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota

    Article • International Journal of Environmental Research and Public Health, January 2022, MDPI AG

    MD, PhD Valeria D'Argenio

  18. Microbiome composition indicate dysbiosis and lower richness in tumor breast tissues compared to healthy adjacent paired tissue, within the same women

    Article • BMC Cancer, January 2022, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  19. Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge

    Article • Diagnostics, November 2021, MDPI AG

    MD, PhD Valeria D'Argenio

  20. Promelaxin Microenemas Are Non-inferior to Oral Polyethylene Glycol for the Treatment of Functional Constipation in Young Children: A Randomized Clinical Trial

    Article • Frontiers in Pediatrics, October 2021, Frontiers

    MD, PhD Valeria D'Argenio

  21. Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients

    Article • Diagnostics, October 2021, MDPI AG

    MD, PhD Valeria D'Argenio

  22. Microbiological Evaluation and Sperm DNA Fragmentation in Semen Samples of Patients Undergoing Fertility Investigation

    Article • Genes, April 2021, MDPI AG

    MD, PhD Valeria D'Argenio

  23. Unraveling the Balance between Genes, Microbes, Lifestyle and the Environment to Improve Healthy Reproduction

    Article • Genes, April 2021, MDPI AG

    MD, PhD Valeria D'Argenio

  24. The Combination of Berberine, Tocotrienols and Coffee Extracts Improves Metabolic Profile and Liver Steatosis by the Modulation of Gut Microbiota and Hepatic miR-122 and miR-34a Expression in Mice

    Article • Nutrients, April 2021, MDPI AG

    MD, PhD Valeria D'Argenio

  25. Updates on liquid biopsy: current trends and future perspectives for clinical application in solid tumors

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), February 2021, De Gruyter

    MD, PhD Valeria D'Argenio

  26. One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples’ Journey

    Article • Genes, January 2021, MDPI AG

    MD, PhD Valeria D'Argenio

  27. Probiotics, prebiotics and their role in Alzheimer’s disease

    Article • Neural Regeneration Research, January 2021, Medknow

    MD, PhD Valeria D'Argenio

  28. Duodenal Metatranscriptomics to Define Human and Microbial Functional Alterations Associated with Severe Obesity: A Pilot Study

    Article • Microorganisms, November 2020, MDPI AG

    MD, PhD Valeria D'Argenio

  29. Inhibition of 37/67kDa Laminin-1 Receptor Restores APP Maturation and Reduces Amyloid-β in Human Skin Fibroblasts from Familial Alzheimer’s Disease

    Article • Journal of Personalized Medicine, November 2020, MDPI AG

    MD, PhD Valeria D'Argenio

  30. The abundance of the long intergenic non-coding RNA 01087 differentiates between luminal and triple-negative breast cancers and predicts patient outcome

    Article • Pharmacological Research, November 2020, Elsevier

    MD, PhD Valeria D'Argenio

  31. Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors

    Article • European Journal of Preventive Cardiology, July 2020, Oxford University Press (OUP)

    MD, PhD Valeria D'Argenio

  32. Yield and clinical significance of genetic screening in elite and amateur athletes

    Article • European Journal of Preventive Cardiology, July 2020, Oxford University Press (OUP)

    MD, PhD Valeria D'Argenio

  33. Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome

    Article • Molecular Genetics & Genomic Medicine, May 2020, Wiley

    MD, PhD Valeria D'Argenio

  34. Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

    Article • Genes, May 2020, MDPI AG

    MD, PhD Valeria D'Argenio

  35. Microbiota and Human Reproduction: The Case of Female Infertility

    Article • High-Throughput, May 2020, MDPI AG

    MD, PhD Valeria D'Argenio

  36. New Insights into the Molecular Bases of Familial Alzheimer’s Disease

    Article • Journal of Personalized Medicine, April 2020, MDPI AG

    MD, PhD Valeria D'Argenio

  37. Microbiota and Human Reproduction: The Case of Male Infertility

    Article • High-Throughput, April 2020, MDPI AG

    MD, PhD Valeria D'Argenio

  38. Characterization of the Duodenal Mucosal Microbiome in Obese Adult Subjects by 16S rRNA Sequencing

    Article • Microorganisms, March 2020, MDPI AG

    MD, PhD Valeria D'Argenio

  39. From laboratory bench to benchmark: technology transfer in laboratory medicine

    Article • Annals of Translational Medicine, March 2020, AME Publishing Company

    MD, PhD Valeria D'Argenio

  40. Innovative technologies for diagnosis and screening of genetic diseases in antenatal age

    Article • Journal of Laboratory and Precision Medicine, January 2020, AME Publishing Company

    MD, PhD Valeria D'Argenio

  41. Setup of Quantitative PCR for Oral Neisseria spp. Evaluation in Celiac Disease Diagnosis

    Article • Diagnostics, December 2019, MDPI AG

    MD, PhD Valeria D'Argenio

  42. A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

    Article • Cancers, September 2019, MDPI AG

    MD, PhD Valeria D'Argenio

  43. Microbiome Influence in the Pathogenesis of Prion and Alzheimer’s Diseases

    Article • International Journal of Molecular Sciences, September 2019, MDPI AG

    MD, PhD Valeria D'Argenio

  44. The evolving role of genetic tests in reproductive medicine

    Article • Journal of Translational Medicine, August 2019, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  45. The Molecular Hallmarks of the Serrated Pathway in Colorectal Cancer

    Article • Cancers, July 2019, MDPI AG

    MD, PhD Valeria D'Argenio

  46. Publisher Correction: Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow’s milk allergy: the EPICMA study

    Article • Scientific Reports, June 2019, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  47. Celiac disease‐associated Neisseria flavescens decreases mitochondrial respiration in CaCo‐2 epithelial cells: Impact of Lactobacillus paracasei CBA L74 on bacterial‐induced cellular imbalance

    Article • Cellular Microbiology, May 2019, Wiley

    MD, PhD Valeria D'Argenio

  48. Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow’s milk allergy: the EPICMA study

    Article • Scientific Reports, February 2019, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  49. Dissecting Intra-Tumor Heterogeneity by the Analysis of Copy Number Variations in Single Cells: The Neuroblastoma Case Study

    Article • International Journal of Molecular Sciences, February 2019, MDPI AG

    MD, PhD Valeria D'Argenio

  50. A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study

    Article • Analytica Chimica Acta, January 2019, Elsevier

    MD, PhD Valeria D'Argenio

  51. The Prenatal Microbiome: A New Player for Human Health

    Article • High-Throughput, December 2018, MDPI AG

    MD, PhD Valeria D'Argenio

  52. Oropharyngeal microbiome evaluation highlights Neisseria abundance in active celiac patients

    Article • Scientific Reports, July 2018, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  53. Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), June 2018, De Gruyter

    MD, PhD Valeria D'Argenio

  54. The High-Throughput Analyses Era: Are We Ready for the Data Struggle?

    Article • High-Throughput, March 2018, MDPI AG

    MD, PhD Valeria D'Argenio

  55. Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete

    Article • Medicina dello Sport, March 2018, Edizioni Minerva Medica

    MD, PhD Valeria D'Argenio

  56. Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1–TGF-β–OTX2–SNAIL via PTEN inhibition

    Article • Brain, February 2018, Oxford University Press (OUP)

    MD, PhD Valeria D'Argenio

  57. Altered Bioenergetic Profile in Umbilical Cord and Amniotic Mesenchymal Stem Cells from Newborns of Obese Women

    Article • Stem Cells and Development, February 2018, Mary Ann Liebert Inc

    MD, PhD Valeria D'Argenio

  58. Human Microbiome Acquisition and Bioinformatic Challenges in Metagenomic Studies

    Article • International Journal of Molecular Sciences, January 2018, MDPI AG

    MD, PhD Valeria D'Argenio

  59. Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

    Article • International Journal of Molecular Sciences, November 2017, MDPI AG

    MD, PhD Valeria D'Argenio

  60. Altered miR-193a-5p expression in children with cow's milk allergy

    Article • Allergy, September 2017, Wiley

    MD, PhD Valeria D'Argenio

  61. The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), August 2017, De Gruyter

    Federica Cariati, MD, PhD Valeria D'Argenio

  62. Detection of colonic dysplasia in patients with ulcerative colitis using a targeted fluorescent peptide and confocal laser endomicroscopy: A pilot study

    Article • PLoS ONE, June 2017, PLOS

    MD, PhD Valeria D'Argenio

  63. The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing

    Article • International Journal of Molecular Sciences, January 2017, MDPI AG

    MD, PhD Valeria D'Argenio

  64. miR-138/miR-222 Overexpression Characterizes the miRNome of Amniotic Mesenchymal Stem Cells in Obesity

    Article • Stem Cells and Development, January 2017, Mary Ann Liebert Inc

    MD, PhD Valeria D'Argenio

  65. Sex-Comparative Analysis of the miRNome of Human Amniotic Mesenchymal Stem Cells During Obesity

    Article • Stem Cells and Development, January 2017, Mary Ann Liebert Inc

    MD, PhD Valeria D'Argenio

  66. Corrigendum: No Change in the Mucosal Gut Microbiome is Associated with Celiac Disease-Specific Microbiome Alteration in Adult Patients

    Article • The American Journal of Gastroenterology, January 2017, Wolters Kluwer Health

    MD, PhD Valeria D'Argenio

  67. A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA

    Article • International Journal of Molecular Sciences, December 2016, MDPI AG

    MD, PhD Valeria D'Argenio

  68. The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated “magic” RNA polymerase

    Article • Scientific Reports, December 2016, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  69. No Change in the Mucosal Gut Microbiome is Associated With Celiac Disease-Specific Microbiome Alteration in Adult Patients

    Article • The American Journal of Gastroenterology, November 2016, Wolters Kluwer Health

    MD, PhD Valeria D'Argenio

  70. Epigenetic features of FoxP3 in children with cow’s milk allergy

    Article • Clinical Epigenetics, August 2016, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  71. Metagenomics Reveals Dysbiosis and a Potentially Pathogenic N. flavescens Strain in Duodenum of Adult Celiac Patients

    Article • The American Journal of Gastroenterology, June 2016, Wolters Kluwer Health

    MD, PhD Valeria D'Argenio

  72. A First Look at an Automated Pipeline for NGS-Based Breast-Cancer Diagnosis: The CArDIGAN Approach

    Article • January 2016, Institute of Electrical & Electronics Engineers (IEEE)

    MD, PhD Valeria D'Argenio

  73. The role of the gut microbiome in the healthy adult status

    Article • Clinica Chimica Acta, December 2015, Elsevier

    MD, PhD Valeria D'Argenio

  74. The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches

    Article • Clinica Chimica Acta, June 2015, Elsevier

    MD, PhD Valeria D'Argenio

  75. Differences in DNA methylation profile of Th1 and Th2 cytokine genes are associated with tolerance acquisition in children with IgE-mediated cow’s milk allergy

    Article • Clinical Epigenetics, March 2015, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  76. A Polymorphism at the Translation Start Site of the Vitamin D Receptor Gene Is Associated with the Response to Anti-Osteoporotic Therapy in Postmenopausal Women from Southern Italy

    Article • International Journal of Molecular Sciences, March 2015, MDPI AG

    Professor Graziamaria Corbi, MD, PhD Valeria D'Argenio

  77. A role for D-aspartate oxidase in schizophrenia and in schizophrenia-related symptoms induced by phencyclidine in mice

    Article • Translational Psychiatry, February 2015, Nature

    Prof Andrea de Bartolomeis, MD, PhD Valeria D'Argenio

  78. Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

    Article • BioMed Research International, January 2015, Hindawi Publishing Corporation

    MD, PhD Valeria D'Argenio

  79. The Analysis of the Inflorescence miRNome of the Orchid Orchis italica Reveals a DEF-Like MADS-Box Gene as a New miRNA Target

    Article • PLoS ONE, May 2014, PLOS

    MD, PhD Valeria D'Argenio, Full Professor luciano gaudio

  80. Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

    Article • Cancer, February 2014, Wiley

    MD, PhD Valeria D'Argenio

  81. Comparative Metagenomic Analysis of Human Gut Microbiome Composition Using Two Different Bioinformatic Pipelines

    Article • BioMed Research International, January 2014, Hindawi Publishing Corporation

    MD, PhD Valeria D'Argenio

  82. Complete sequencing of Novosphingobium sp. PP1Y reveals a biotechnologically meaningful metabolic pattern

    Article • BMC Genomics, January 2014, Springer Science + Business Media

    MD, PhD Valeria D'Argenio

  83. DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies

    Article • Journal of Molecular Diagnostics, January 2014, Elsevier

    MD, PhD Valeria D'Argenio

  84. An Altered Gut Microbiome Profile in a Child Affected by Crohnʼs Disease Normalized After Nutritional Therapy

    Article • The American Journal of Gastroenterology, May 2013, Wolters Kluwer Health

    MD, PhD Valeria D'Argenio

  85. De Novo Sequencing and Assembly of the Whole Genome of Novosphingobium sp. Strain PP1Y

    Article • Journal of Bacteriology, June 2011, ASM Journals

    MD, PhD Valeria D'Argenio

  86. Mutational spectrum ofF8gene and prothrombotic gene variants in haemophilia A patients from Southern Italy

    Article • Haemophilia, July 2008, Wiley

    MD, PhD Valeria D'Argenio

  87. Haemophilia A: molecular insights

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2007, De Gruyter

    ANTONIO COPPOLA, MD, PhD Valeria D'Argenio