Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 440 | 2020 |
Whole-genome sequencing of a sporadic primary immunodeficiency cohort JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ... Nature 583 (7814), 90-95, 2020 | 190 | 2020 |
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 107 | 2020 |
Platelet function is modified by common sequence variation in megakaryocyte super enhancers R Petersen, JJ Lambourne, BM Javierre, L Grassi, R Kreuzhuber, ... Nature communications 8 (1), 16058, 2017 | 62 | 2017 |
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome MC Sims, L Mayer, JH Collins, TK Bariana, K Megy, C Lavenu-Bombled, ... Blood, The Journal of the American Society of Hematology 136 (17), 1956-1967, 2020 | 45 | 2020 |
Histone acetyltransferase KAT2A stabilizes pluripotency with control of transcriptional heterogeneity N Moris, S Edri, D Seyres, R Kulkarni, AF Domingues, T Balayo, ... Stem Cells 36 (12), 1828-1838, 2018 | 40 | 2018 |
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia C Lentaigne, D Greene, S Sivapalaratnam, R Favier, D Seyres, C Thys, ... Blood, The Journal of the American Society of Hematology 134 (23), 2070-2081, 2019 | 38 | 2019 |
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia TK Bariana, V Labarque, J Heremans, C Thys, M De Reys, D Greene, ... Haematologica 104 (5), 1036, 2019 | 35 | 2019 |
Genes and networks regulating cardiac development and function in flies: genetic and functional genomic approaches D Seyres, L Röder, L Perrin Briefings in functional genomics 11 (5), 366-374, 2012 | 20 | 2012 |
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas L Grassi, OG Izuogu, NAN Jorge, D Seyres, M Bustamante, F Burden, ... haematologica 106 (10), 2613, 2021 | 15 | 2021 |
Identification of cis-regulatory modules encoding temporal dynamics during development D Potier, D Seyres, C Guichard, M Iche-Torres, S Aerts, C Herrmann, ... BMC genomics 15, 1-15, 2014 | 15 | 2014 |
Epitope-engineered human hematopoietic stem cells are shielded from CD123-targeted immunotherapy R Marone, E Landmann, A Devaux, R Lepore, D Seyres, J Zuin, T Burgold, ... Journal of Experimental Medicine 220 (12), e20231235, 2023 | 12 | 2023 |
Interplay between trauma and Pseudomonas entomophila infection in flies: a central role of the JNK pathway and of CrebA R Ragheb, A Chuyen, M Torres, A Defaye, D Seyres, L Kremmer, ... Scientific Reports 7 (1), 16222, 2017 | 11 | 2017 |
Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes D Seyres, A Cabassi, JJ Lambourne, F Burden, S Farrow, H McKinney, ... Clinical epigenetics 14 (1), 39, 2022 | 10 | 2022 |
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology P Akbari, D Vuckovic, L Stefanucci, T Jiang, K Kundu, R Kreuzhuber, ... Nature communications 14 (1), 5023, 2023 | 9 | 2023 |
Genetic analyses of blood cell structure for biological and pharmacological inference P Akbari, D Vuckovic, T Jiang, K Kundu, R Kreuzhuber, EL Bao, L Mayer, ... bioRxiv, 2020.01. 30.927483, 2020 | 7 | 2020 |
Cell type specific novel lincRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas L Grassi, OG Izuogu, NAN Jorge, D Seyres, M Bustamante, F Burden, ... Biorxiv, 764613, 2019 | 6 | 2019 |
Identification and in silico modeling of enhancers reveals new features of the cardiac differentiation network D Seyres, Y Ghavi-Helm, G Junion, O Taghli-Lamallem, C Guichard, ... Development 143 (23), 4533-4542, 2016 | 6 | 2016 |
Forced expression of the non-coding RNA miR-17∼ 92 restores activation and function in CD28-deficient CD4+ T cells M Dölz, M Hasiuk, JD Gagnon, M Kornete, R Marone, G Bantug, ... Iscience 25 (11), 2022 | 5 | 2022 |
LedPred: an R/bioconductor package to predict regulatory sequences using support vector machines D Seyres, E Darbo, L Perrin, C Herrmann, A González Bioinformatics 32 (7), 1091-1093, 2016 | 3 | 2016 |