Jaishri O'Neill Blakeley

Immortalization and Characterization of Schwann Cell Lines Derived from NF1 Associated Cutaneous Neurofibromas

The paper develops and characterizes semi-immortalized Schwann cell lines from NF1-associated cutaneous neurofibromas to aid in studying and developing therapies for NF1.

Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset

The paper provides an integrated genomic analysis of NF1-associated peripheral nerve sheath tumors using RNAseq and WES data from 73 and 114 samples, respectively, accessible via the NF Data Portal.

Understanding Barriers to Diagnosis in a Rare, Genetic Disease: Delays and Errors in Diagnosing Schwannomatosis

This study examines diagnostic delays and errors in schwannomatosis using medical records, finding long delays and frequent misdiagnoses linked to non-specific symptoms and missed genetic testing opportunities.

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1

The paper uses statistical and machine learning methods to analyze NF1 tumor genomic data, identifying key signaling pathways and molecular features associated with different tumor types and potential drug targets.