| SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia | Brain and development. Case reports |  | | 2024 | 20 | 82 |
|
| A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism : Insights from targeted exome sequencing | Pediatric Discovery | | | 2024 | 20 | 64 |
|
| Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant | Communications biology | | | 2023 | 105 | 93 |
|
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 198 | 194 |
|
| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | | 2023 | 101 | 89 |
|
| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | | 2021 | 319 | 495 |
|
| ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder | Clinical genetics | | | 2021 | 203 | 85 |
|
| Genetic and clinic predictors of new onset diabetes mellitus after transplantation | The Pharmacogenomics Journal | | | 2019 | 371 | 0 |
|
| Genetic immune and inflammatory markers associated with diabetes in solid organ transplant recipients | American Journal of Transplantation |  | | 2019 | 456 | 0 |
|
| CRTC2 polymorphism as a risk factor for the incidence of metabolic syndrome in patients with solid organ transplantation | Pharmacogenomics journal | | | 2017 | 709 | 0 |
|
| Weighted Genetic Risk Scores and Prediction of Weight Gain in Solid Organ Transplant Populations | PloS one | | | 2016 | 534 | 271 |
|
| Association of genetic risk scores with body mass index in Swiss psychiatric cohorts | Pharmacogenetics and genomics | | | 2016 | 573 | 0 |
|
| Association of PCK1 with Body Mass Index and Other Metabolic Features in Patients With Psychotropic Treatments | Journal of clinical psychopharmacology | | | 2015 | 606 | 1 |
|
| Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients receiving psychotropic treatments | Pharmacogenetics and genomics | | | 2015 | 668 | 0 |
|
| Influence of MCHR2 and MCHR2-AS1 Genetic Polymorphisms on Body Mass Index in Psychiatric Patients and In Population-Based Subjects with Present or Past Atypical Depression | PloS one | | | 2015 | 619 | 256 |
|
| Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult population | JAMA psychiatry | | | 2013 | 689 | 0 |
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