| Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity | Scientific reports |  | | 2022 | 238 | 263 |
|
| Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics |  | | 2020 | 495 | 368 |
|
| Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes | Pediatric Diabetes |  | | 2019 | 373 | 3 |
|
| Characterization of KIAA2022 and generation of knock-out mice indicates a role in maintaining genomic stability | |  | | 2019 | 807 | 9 |
|
| Genetic Defects of the β-Cell That Cause Diabetes | Endocrine development |  | | 2016 | 649 | 3 |
|
| Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant | Hormone research in paediatrics |  | | 2015 | 582 | 2 |
|