| Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases Q Testard, X Vanhoye, K Yauy, ME Naud, G Vieville, F Rousseau, ... Journal of Medical Genetics 59 (12), 1234-1240, 2022 | 22 | 2022 |
| Extracellular vesicles from myelodysplastic mesenchymal stromal cells induce DNA damage and mutagenesis of hematopoietic stem cells through miRNA transfer M Meunier, A Guttin, S Ancelet, D Laurin, J Zannoni, C Lefebvre, ... Leukemia 34 (8), 2249-2253, 2020 | 15 | 2020 |
| Exome-first strategy in adult patients with CKD: a cohort study A Doreille, Y Lombardi, M Dancer, R Lamri, Q Testard, X Vanhoye, ... Kidney international reports 8 (3), 596-605, 2023 | 12 | 2023 |
| Genome alert!: a standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine K Yauy, F Lecoquierre, S Baert-Desurmont, D Trost, A Boughalem, ... Genetics in Medicine 24 (6), 1316-1327, 2022 | 9 | 2022 |
| Learning phenotypic patterns in genetic diseases by symptom interaction modeling K Yauy, N Duforet-Frebourg, Q Testard, S Beaumeunier, J Audoux, ... medRxiv, 2022.07. 29.22278181, 2022 | 1 | 2022 |
| Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine K Yauy, F Lecoquierre, S Baert-Desurmont, D Trost, A Boughalem, ... medRxiv, 2021.07. 13.21260422, 2021 | 1 | 2021 |
| Rapid resistance detection is reliable for prompt adaptation of isoniazid resistant tuberculosis management O Bahuaud, C Genestet, E Hodille, M Vallée, Q Testard, C Tataï, J Saison, ... Heliyon 10 (9), 2024 | | 2024 |
| An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome A Coudert, J Thevenon, Q Testard, V Satre, R Harbuz, P Bouvagnet, ... American Journal of Medical Genetics Part A, e63932, 2024 | | 2024 |
| Learning phenotypic patterns in genetic diseases by symptom interaction modeling J Thevenon, K Yauy, N Duforet-Frebourg, Q Testard, S Beaumeunier, ... | | 2022 |
| Systematic and automated genotype-phenotype associations reassessment through ClinVar follow-up K Yauy, F Lecoquierre, S Baert-Desurmont, D Trost, A Boughalem, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 490-490, 2022 | | 2022 |
| Industrialisation des procédures d'analyses de données de séquençage pan-génomiques constitutionnelles Q Testard Université Grenoble Alpes [2020-....], 2021 | | 2021 |
