Author

Behnam Javanmardi

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Review Open access Jan 2026

Insights Into RP2‐Associated Retinopathy: From Molecular Basis to Clinical Translation

Pathogenic variants in RP2 cause X‐linked RP2‐associated retinopathy, a rare inherited retinal disorder typically characterized by childhood onset and progression to severe visual impairment within the first three decades of life. Despite its clinical severity, comprehensive clinical and genetic data on RP2‐associated...

N. Bögershausen, Patricia Döring, Maximilian J. Gerhardt et al. · Human Mutation · 0 citations

Preprint Aug 2026

Multi-Level Evidence Aggregation for Robust Facial Phenotype Retrieval in Rare Genetic Disorder Prioritization

Inference-time aggregation can improve next-generation facial phenotype retrieval without retraining the encoder, supporting a shift from isolated single-image matching toward multi-level aggregation of patient and disorder evidence for rare-disorder prioritization.

Alexander Hustinx, Carolin Kaffiné, Behnam Javanmardi et al. · 0 citations