| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation |  | | 2021 | 381 | 527 |
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| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 171 | 114 |
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| LARS2-Perrault syndrome: a new case report and literature review | BMC Medical Genetics | | | 2020 | 483 | 544 |
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| MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination | Annals of Clinical and Translational Neurology | | | 2020 | 227 | 199 |
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| Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) | American Journal of Medical Genetics. A |  | | 2020 | 346 | 1 |
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