Genomic sequencing has come a long way in a short time, and its potential to drive even faster innovations in precision medicine is enormous. To capitalize on that opportunity, however, health systems ...

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 ...

Located on the Buffalo Niagara Medical Campus and the first next-generation sequencing service provider in the region, UB's Genomics and Bioinformatics Core Facility provides high-quality services ...