Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before ...

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge. Newborn ...

Next-generation sequencing (NGS) has transformed genomic research and clinical diagnostics by enabling rapid, high-throughput analysis of genetic material. The application of NGS to formalin-fixed ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...