| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics |  | | 2026 | 18 | 330 |
|
| Enhancing fetal outcomes in GCK-MODY pregnancies : a precision medicine approach via non-invasive prenatal GCK mutation detection | Frontiers in medicine | | | 2024 | 121 | 182 |
|
| Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR | Clinical and experimental allergy |  | | 2024 | 115 | 0 |
|
| Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant | Communications biology | | | 2023 | 109 | 110 |
|
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 203 | 216 |
|
| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | | 2023 | 105 | 94 |
|
| Severe and Early Hepatic Failure in A Neonate: A New CFTR Mutation Associated with Medium-Chain Acyl-CoA Deficiency | Frontiers in Medical Case Reports | | | 2021 | 119 | 206 |
|
| Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations | Journal of diabetes investigation | | | 2021 | 91 | 407 |
|
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | | 2021 | 385 | 571 |
|
| Tissue-plasma TMB comparison and plasma TMB monitoring in patients with metastatic non-small cell lung cancer receiving immune checkpoint inhibitors | Frontiers in Oncology | | | 2020 | 304 | 334 |
|
| Maladie de Rendu-Osler-Weber : importance d'une prise en charge multidisciplinaire | Revue médicale suisse | | | 2016 | 664 | 1 |
|
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 755 | 364 |
|
| Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2 | Nature | | | 1993 | 678 | 0 |
|
