| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics |  | | 2026 | 12 | 252 |
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| A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism : Insights from targeted exome sequencing | Pediatric Discovery | | | 2024 | 20 | 64 |
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| Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant | Communications biology | | | 2023 | 105 | 93 |
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| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 198 | 194 |
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| Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment | Child neurology open | | | 2023 | 79 | 82 |
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| Lupus induit et DRESS : effet indésirable rare mais redoutable de la mésalazine | | | | 2023 | 246 | 60 |
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| Drug-induced hypersensitivity syndrome with lupus manifestations due to mesalazine in a patient with ulcerative colitis | BMJ case reports |  | | 2022 | 276 | 0 |
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| A Model to Investigate Single-Strand DNA Responses in G1 Human Cells via a Telomere-Targeted, Nuclease-Deficient CRISPR-Cas9 System | PloS one | | | 2017 | 82 | 50 |
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| Microcollimator for Micrometer-Wide Stripe Irradiation of Cells Using 20–30 keV X Rays | Radiation research | | | 2009 | 74 | 0 |
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