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Author

Catalina Samsó

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Oct 2026

Computer-Aided Facial Analysis and Non-Coding Variants Detectable by Exome Sequencing Increase Its Diagnostic Yield: Results From the DECIPHERD Study.

While exome sequencing (ES) reanalysis is recommended for patients undiagnosed after initial analysis, the combination of computer-aided facial phenotyping with targeted examination of non-coding variants remains underexplored. We aimed to identify the molecular etiology in undiagnosed cases from the DECIPHERD study (n...

Daniela Böhme, V. Faundes, M. Poli et al. · 0 citations

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