All Stories

  1. Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk
  2. Microbiota and Human Reproduction: The Case of Female Infertility
  3. New Insights into the Molecular Bases of Familial Alzheimer’s Disease
  4. Microbiota and Human Reproduction: The Case of Male Infertility
  5. Characterization of the Duodenal Mucosal Microbiome in Obese Adult Subjects by 16S rRNA Sequencing
  6. From laboratory bench to benchmark: technology transfer in laboratory medicine
  7. Innovative technologies for diagnosis and screening of genetic diseases in antenatal age
  8. Setup of Quantitative PCR for Oral Neisseria spp. Evaluation in Celiac Disease Diagnosis
  9. A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair
  10. Microbiome Influence in the Pathogenesis of Prion and Alzheimer’s Diseases
  11. The evolving role of genetic tests in reproductive medicine
  12. The Molecular Hallmarks of the Serrated Pathway in Colorectal Cancer
  13. Publisher Correction: Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow’s milk allergy: the EPICMA study
  14. Celiac disease‐associated Neisseria flavescens decreases mitochondrial respiration in CaCo‐2 epithelial cells: Impact of Lactobacillus paracasei CBA L74 on bacterial‐induced cellular imbalance
  15. Randomized controlled trial on the influence of dietary intervention on epigenetic mechanisms in children with cow’s milk allergy: the EPICMA study
  16. Dissecting Intra-Tumor Heterogeneity by the Analysis of Copy Number Variations in Single Cells: The Neuroblastoma Case Study
  17. 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
  18. The Prenatal Microbiome: A New Player for Human Health
  19. Oropharyngeal microbiome evaluation highlights Neisseria abundance in active celiac patients
  20. Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology
  21. The High-Throughput Analyses Era: Are We Ready for the Data Struggle?
  22. Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1–TGF-β–OTX2–SNAIL via PTEN inhibition
  23. Altered Bioenergetic Profile in Umbilical Cord and Amniotic Mesenchymal Stem Cells from Newborns of Obese Women
  24. Human Microbiome Acquisition and Bioinformatic Challenges in Metagenomic Studies
  25. Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
  26. Altered miR-193a-5p expression in children with cow's milk allergy
  27. The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth
  28. Detection of colonic dysplasia in patients with ulcerative colitis using a targeted fluorescent peptide and confocal laser endomicroscopy: A pilot study
  29. The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing
  30. miR-138/miR-222 Overexpression Characterizes the miRNome of Amniotic Mesenchymal Stem Cells in Obesity
  31. Sex-Comparative Analysis of the miRNome of Human Amniotic Mesenchymal Stem Cells During Obesity
  32. A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA
  33. The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated “magic” RNA polymerase
  34. No Change in the Mucosal Gut Microbiome is Associated With Celiac Disease-Specific Microbiome Alteration in Adult Patients
  35. Epigenetic features of FoxP3 in children with cow’s milk allergy
  36. Metagenomics Reveals Dysbiosis and a Potentially Pathogenic N. flavescens Strain in Duodenum of Adult Celiac Patients
  37. A First Look at an Automated Pipeline for NGS-Based Breast-Cancer Diagnosis: The CArDIGAN Approach
  38. The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches
  39. 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
  40. 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
  41. A role for D-aspartate oxidase in schizophrenia and in schizophrenia-related symptoms induced by phencyclidine in mice
  42. Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives
  43. The Analysis of the Inflorescence miRNome of the Orchid Orchis italica Reveals a DEF-Like MADS-Box Gene as a New miRNA Target
  44. Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?
  45. Comparative Metagenomic Analysis of Human Gut Microbiome Composition Using Two Different Bioinformatic Pipelines
  46. Complete sequencing of Novosphingobium sp. PP1Y reveals a biotechnologically meaningful metabolic pattern
  47. DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies
  48. An Altered Gut Microbiome Profile in a Child Affected by Crohnʼs Disease Normalized After Nutritional Therapy
  49. De Novo Sequencing and Assembly of the Whole Genome of Novosphingobium sp. Strain PP1Y
  50. Mutational spectrum ofF8gene and prothrombotic gene variants in haemophilia A patients from Southern Italy
  51. Haemophilia A: molecular insights