| Validation of a new actigraph motion watch versus polysomnography on 70 healthy and suspected sleep-disordered subjects M Elbaz, K Yauy, A Metlaine, M Martoni, D Leger J Sleep Res 21 (Suppl 1), 218, 2012 | 57 | 2012 |
| Accurate detection of clinically relevant uniparental disomy from exome sequencing data K Yauy, N de Leeuw, HG Yntema, R Pfundt, C Gilissen Genetics in Medicine 22 (4), 803-808, 2020 | 37 | 2020 |
| A reliable targeted next-generation sequencing strategy for diagnosis of myopathies and muscular dystrophies, especially for the giant titin and nebulin genes R Zenagui, D Lacourt, H Pegeot, K Yauy, RJ Morales, C Theze, F Rivier, ... The Journal of Molecular Diagnostics 20 (4), 533-549, 2018 | 31 | 2018 |
| B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation K Yauy, F Tran Mau-Them, M Willems, C Coubes, P Blanchet, C Herlin, ... Genetics in Medicine 20 (2), 269-274, 2018 | 25 | 2018 |
| 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 | 14 | 2022 |
| MoBiDiC prioritization algorithm, a free, accessible, and efficient pipeline for single-nucleotide variant annotation and prioritization for next-generation sequencing routine … K Yauy, D Baux, H Pegeot, C Van Goethem, C Mathieu, T Guignard, ... The Journal of Molecular Diagnostics 20 (4), 465-473, 2018 | 14 | 2018 |
| Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report K Yauy, A Schneider, BL Ng, JB Gaillard, S Sati, C Coubes, C Wells, ... BMC Medical Genomics 12, 1-6, 2019 | 13 | 2019 |
| Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective CF Wells, G Boursier, K Yauy, N Ruiz-Pallares, D Mechin, V Ruault, ... European Journal of Human Genetics 30 (9), 1076-1082, 2022 | 11 | 2022 |
| Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis V Ruault, K Yauy, A Fabre, M Fradin, J Van-Gils, C Angelini, G Baujat, ... Arthritis & rheumatology 72 (10), 1689-1693, 2020 | 10 | 2020 |
| Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives P Vande Perre, D Toledano, C Corsini, E Escriba, M Laporte, H Bertet, ... Molecular Genetics & Genomic Medicine 6 (6), 957-965, 2018 | 10 | 2018 |
| Ovarian clear cell carcinoma in Cowden syndrome K Yauy, M Imbert-Bouteille, V Bubien, C Lindet-Bourgeois, G Rathat, ... Journal of the National Comprehensive Cancer Network 17 (1), 7-11, 2019 | 9 | 2019 |
| An integrated clinical-biological approach to identify interindividual variability and atypical phenotype-genotype correlations in myopathies: experience on a cohort of 156 … R Juntas Morales, A Perrin, G Solé, D Lacourt, H Pegeot, ... Genes 12 (8), 1199, 2021 | 8 | 2021 |
| Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt F Rouxel, K Yauy, G Boursier, V Gatinois, M Barat-Houari, E Sanchez, ... European Journal of Human Genetics 30 (6), 682-686, 2022 | 7 | 2022 |
| 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 | 7 | 2022 |
| Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation P Pujol, K Yauy, A Coffy, N Duforet-Frebourg, S Gabteni, JP Daurès, ... Cancers 14 (13), 3266, 2022 | 6 | 2022 |
| Looking for broken TAD boundaries and changes on DNA interactions: clinical guide to 3D chromatin change analysis in complex chromosomal rearrangements and chromothripsis K Yauy, V Gatinois, T Guignard, S Sati, J Puechberty, JB Gaillard, ... Chromothripsis: Methods and Protocols, 353-361, 2018 | 5 | 2018 |
| Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals Q Sabbagh, S Haghshenas, J Piard, C Trouvé, J Amiel, T Attié-Bitach, ... Genetics in Medicine 26 (1), 101007, 2024 | 2 | 2024 |
| GenIA, the Genetic Immunology Advisor database for inborn errors of immunity A Caballero-Oteyza, L Crisponi, XP Peng, K Yauy, S Volpi, S Giardino, ... Journal of Allergy and Clinical Immunology 153 (3), 831-843, 2024 | 1 | 2024 |
| Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome Q Hennocq, M Willems, J Amiel, S Arpin, T Attie-Bitach, T Bongibault, ... Scientific Reports 14 (1), 2330, 2024 | 1 | 2024 |
| 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 |
