| Immunodeficiency and lymphoma in Jacobsen syndrome | Journal of investigational allergology & clinical immunology |  | | 2022 | 339 | 393 |
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| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | | 2021 | 381 | 527 |
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| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | | 2021 | 319 | 495 |
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| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders | Genetics in medicine | | | 2021 | 117 | 257 |
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| LARS2-Perrault syndrome: a new case report and literature review | BMC Medical Genetics | | | 2020 | 483 | 544 |
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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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