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| CAMTA1-related disorder : Phenotypic and molecular characterization of 26 new individuals and literature review | Clinical genetics |  | | 2024 | 14 | 0 |
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| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 171 | 114 |
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| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | | 2018 | 593 | 2 |
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| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | | 2017 | 551 | 2 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 749 | 354 |
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