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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
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Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function2023 Journal of Translational Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
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Patient-Derived Inner Ear Organoids as a Disease Modeling and Therapy Validation Platform For Hereditary Inner Ear Disorders2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Hearing, Cochlea, Tinnitus, Genetics Open access
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