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Author

Carlos E. Prada

2 papers indexed here

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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. · 0 citations
Case report Open access Sep 2026

Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM

The overlap between ventral body wall abnormalities in GOF disease and omphalocele associated with ABL1 haploinsufficiency suggests that precise regulation of ABL1 signaling is critical for normal ventral body wall formation.

Y. Zarate, Seungjae Oh, Julie E. Saldana Guzman et al. · 0 citations

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