The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ... Human mutation 36 (4), 395-402, 2015 | 803 | 2015 |
The king cobra genome reveals dynamic gene evolution and adaptation in the snake venom system FJ Vonk, NR Casewell, CV Henkel, AM Heimberg, HJ Jansen, ... Proceedings of the National Academy of Sciences 110 (51), 20651-20656, 2013 | 536 | 2013 |
The CHEMDNER corpus of chemicals and drugs and its annotation principles M Krallinger, O Rabal, F Leitner, M Vazquez, D Salgado, Z Lu, R Leaman, ... Journal of cheminformatics 7, 1-17, 2015 | 380 | 2015 |
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis PA Juge, R Borie, C Kannengiesser, S Gazal, P Revy, ... European Respiratory Journal 49 (5), 2017 | 209 | 2017 |
VarAFT: a variant annotation and filtration system for human next generation sequencing data JP Desvignes, M Bartoli, V Delague, M Krahn, M Miltgen, C Béroud, ... Nucleic acids research 46 (W1), W545-W553, 2018 | 199 | 2018 |
The Protein-Protein Interaction tasks of BioCreative III: classification/ranking of articles and linking bio-ontology concepts to full text M Krallinger, M Vazquez, F Leitner, D Salgado, A Chatr-Aryamontri, ... BMC bioinformatics 12, 1-31, 2011 | 196 | 2011 |
Neural crest regulates myogenesis through the transient activation of NOTCH AC Rios, O Serralbo, D Salgado, C Marcelle Nature 473 (7348), 532-535, 2011 | 188 | 2011 |
Clinical outcomes in Duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database Z Koeks, CL Bladen, D Salgado, E Van Zwet, O Pogoryelova, ... Journal of neuromuscular diseases 4 (4), 293-306, 2017 | 180 | 2017 |
UMD‐predictor: a high‐throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution D Salgado, JP Desvignes, G Rai, A Blanchard, M Miltgen, A Pinard, ... Human mutation 37 (5), 439-446, 2016 | 136 | 2016 |
Minimum information specification for in situ hybridization and immunohistochemistry experiments (MISFISHIE) EW Deutsch, CA Ball, JJ Berman, GS Bova, A Brazma, RE Bumgarner, ... Nature biotechnology 26 (3), 305-312, 2008 | 133 | 2008 |
The ANISEED database: digital representation, formalization, and elucidation of a chordate developmental program O Tassy, D Dauga, F Daian, D Sobral, F Robin, P Khoueiry, D Salgado, ... Genome research 20 (10), 1459-1468, 2010 | 130 | 2010 |
A mutation in the Gardos channel is associated with hereditary xerocytosis R Rapetti-Mauss, C Lacoste, V Picard, C Guitton, E Lombard, M Loosveld, ... Blood, The Journal of the American Society of Hematology 126 (11), 1273-1280, 2015 | 123 | 2015 |
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe CL Bladen, R Thompson, JM Jackson, C Garland, C Wegel, A Ambrosini, ... Journal of neurology 261, 152-163, 2014 | 121 | 2014 |
New advances in DPYD genotype and risk of severe toxicity under capecitabine MC Etienne-Grimaldi, JC Boyer, C Beroud, L Mbatchi, A van Kuilenburg, ... PLoS One 12 (5), e0175998, 2017 | 120 | 2017 |
The TREAT‐NMD D uchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia CL Bladen, K Rafferty, V Straub, S Monges, A Moresco, H Dawkins, A Roy, ... Human mutation 34 (11), 1449-1457, 2013 | 115 | 2013 |
BioCreative III interactive task: an overview CN Arighi, PM Roberts, S Agarwal, S Bhattacharya, G Cesareni, ... BMC bioinformatics 12, 1-21, 2011 | 104 | 2011 |
Leveraging European infrastructures to access 1 million human genomes by 2022 G Saunders, M Baudis, R Becker, S Beltran, C Béroud, E Birney, ... Nature Reviews Genetics 20 (11), 693-701, 2019 | 97 | 2019 |
Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis T Neri, E Hiriart, PP Van Vliet, E Faure, RA Norris, B Farhat, B Jagla, ... Nature Communications 10 (1), 1929, 2019 | 89 | 2019 |
Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma L Jallades, L Baseggio, P Sujobert, S Huet, K Chabane, E Callet-Bauchu, ... haematologica 102 (10), 1758, 2017 | 76 | 2017 |
First cases of Omicron in France are exhibiting mild symptoms, November 2021–January 2022 A Maisa, G Spaccaferri, L Fournier, J Schaeffer, J Deniau, P Rolland, ... Infectious Diseases Now 52 (3), 160-164, 2022 | 71 | 2022 |