| Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013 | 2039 | 2013 |
| Effect of predicted protein-truncating genetic variants on the human transcriptome MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ... Science 348 (6235), 666-669, 2015 | 341 | 2015 |
| Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories PAC 't Hoen, MR Friedländer, J Almlöf, M Sammeth, I Pulyakhina, ... Nature biotechnology 31 (11), 1015-1022, 2013 | 268 | 2013 |
| The role of a bioresource research impact factor as an incentive to share human bioresources BWG Anne Cambon-Thomsen, Gudmundur A Thorisson, Laurence Mabile Nature Genetics 43 (6), 503‐504, 2011 | 97 | 2011 |
| Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views G Bertier, M Hétu, Y Joly BMC medical genomics 9, 1-12, 2016 | 93 | 2016 |
| Integrating precision cancer medicine into healthcare—policy, practice, and research challenges G Bertier, J Carrot-Zhang, V Ragoussis, Y Joly Genome medicine 8, 1-12, 2016 | 59 | 2016 |
| Non-invasive prenatal testing and the unveiling of an impaired translation process B Murdoch, V Ravitsky, U Ogbogu, S Ali-Khan, G Bertier, S Birko, ... Journal of Obstetrics and Gynaecology Canada 39 (1), 10-17, 2017 | 33 | 2017 |
| Unsolved challenges in pediatric whole-exome sequencing: A literature analysis G Bertier, K Sénécal, P Borry, DF Vears Critical reviews in clinical laboratory sciences 54 (2), 134-142, 2017 | 31 | 2017 |
| The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children JA Odgis, KM Gallagher, SA Suckiel, KE Donohue, MA Ramos, NR Kelly, ... Trials 22, 1-14, 2021 | 24 | 2021 |
| GUÍA: a digital platform to facilitate result disclosure in genetic counseling SA Suckiel, JA Odgis, KM Gallagher, JE Rodriguez, D Watnick, G Bertier, ... Genetics in Medicine 23 (5), 942-949, 2021 | 20 | 2021 |
| Is it research or is it clinical? Revisiting an old frontier through the lens of next-generation sequencing technologies G Bertier, A Cambon-Thomsen, Y Joly European Journal of Medical Genetics 61 (10), 634-641, 2018 | 13 | 2018 |
| Open science precision medicine in Canada: points to consider P Granados Moreno, SE Ali-Khan, B Capps, T Caulfield, D Chalaud, ... Facets 4 (1), 1-19, 2019 | 10 | 2019 |
| Quand l’anticipation devient plurielle: la complexité des données génomiques à l’épreuve des pratiques professionnelles: Anticipation prédictive: vers une préemption du futur? S Julia, G Bertier, A Cambon-Thomsen Revue française d’éthique appliquée, 19-28, 2016 | 8 | 2016 |
| Management of incidental findings in clinical genomic sequencing studies S Dheensa, S Shkedi‐Rafid, G Crawford, G Bertier, L Schonstein, ... eLS, 1-7, 2016 | 8 | 2016 |
| Genome-based newborn screening: a conceptual analysis of the best interests of the child standard K Sénécal, DF Vears, G Bertier, BM Knoppers, P Borry Personalized Medicine 12 (5), 439-441, 2015 | 8 | 2015 |
| How to operationalize and to evaluate the FAIRness in the crediting and rewarding processes in data sharing: a first step towards a simplified assessment grid R David, L Mabile, M Yahia, A Cambon-Thomsen, AS Archambeau, ... JNSO 2018 - Journées Nationales de la Science Ouverte, Dec 2018, Paris, France., 2018 | 5 | 2018 |
| Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold? G Bertier, Y Joly Life Sciences, Society and Policy 14, 1-19, 2018 | 4 | 2018 |
| 2004–2009: révision de la loi de bioéthique en France, quels enjeux, quels débats? Assistance médicale à la procréation, gestation pour autrui, transplantation G Bertier, E Rial-Sebbag, A Cambon-Thomsen Médecine & droit 2010 (100-101), 42-48, 2010 | 4 | 2010 |
| GenomeDiver: a platform for phenotype-guided medical genomic diagnosis NM Pearson, C Stolte, K Shi, F Beren, NS Abul-Husn, G Bertier, K Brown, ... Genetics in Medicine 23 (10), 1998-2002, 2021 | 3 | 2021 |
| Comment opérationnaliser et évaluer la prise en compte du concept ‘FAIR'dans le partage des données: Vers une grille simplifiée d’évaluation du respect des critères FAIR. R David, L Mabile, M Yahia, A Cambon-Thomsen, AS Archambeau, ... | 3 | 2018 |
