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Author

John Christodoulou

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2 papers indexed here

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Open access Sep 2026

An economic evaluation of functional genomic testing for individuals with undiagnosed rare disorders.

PURPOSE Functional genomics (FG) approaches, such as RNA-seq and proteomics, offer a complementary diagnostic modality for individuals whose cases remain unsolved after genomic sequencing. This study evaluates the cost-effectiveness and cost-benefit of FG for individuals with suspected monogenic disorders relative to m...

Francisco Santos Gonzalez, Ellenore M. Martin, Madeleine Harris et al. · 0 citations
Review Open access Aug 2026

Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review.

AIM To provide a systematic overview of speech, language, and social abilities of people with Rett syndrome (RTT), and identify the most frequently used communication assessments in the literature. METHOD A systematic search of PubMed, CINAHL, ScienceDirect, ERIC, and speechBITE databases was conducted using terms sy...

Lucas N Raniolo, R. Braden, J. von Hehn et al. · 0 citations

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