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| Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | npj genomic medicine |  | | 2024 | 22 | 24 |
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| CROCCP2 acts as a human-specific modifier of cilia dynamics and mTOR signaling to promote expansion of cortical progenitors | Neuron | | | 2023 | 27 | 125 |
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| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 203 | 216 |
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| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | | 2021 | 325 | 540 |
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