| Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study | European journal of human genetics |  | | 2024 | 22 | 76 |
|
| CAMTA1-related disorder : Phenotypic and molecular characterization of 26 new individuals and literature review | Clinical genetics |  | | 2024 | 19 | 0 |
|
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 175 | 124 |
|
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | | 2018 | 598 | 2 |
|
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | | 2017 | 555 | 2 |
|
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 755 | 364 |
|
