Author

Carolyn R. Raski

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Open access Aug 2026

Harmonizing Multi-Institutional Clinical Documentation Using Natural Language Processing in Neurofibromatosis Type 1 (NF1)

Background and Objectives. Machine learning (ML) and natural language processing (NLP) approaches are increasingly used to support nuanced phenotyping, surveillance, and trial readiness using electronic health records (EHRs) in neurological disease. However, inconsistent clinical documentation limits data harmonization...

Stephanie M. Morris, Levi Kaster, S. Amagai et al. · Neurology Clinical Practice · 0 citations

Review Open access Sep 2026

The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.

The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.

H. Jaouadi, Şakir Hicazi, Carolyn R. Raski et al. · American Journal of Medical... · 0 citations