| A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans DK Bricker, EB Taylor, JC Schell, T Orsak, A Boutron, YC Chen, JE Cox, ... Science 337 (6090), 96-100, 2012 | 949 | 2012 |
| Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ... Science immunology 6 (62), eabl4340, 2021 | 515 | 2021 |
| X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 372 | 2021 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 327 | 2017 |
| Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ... Journal of medical genetics 51 (11), 724-736, 2014 | 301 | 2014 |
| XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing A Piton, C Redin, JL Mandel The American Journal of Human Genetics 93 (2), 368-383, 2013 | 297 | 2013 |
| A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection JL Casanova, HC Su, L Abel, A Aiuti, S Almuhsen, AA Arias, P Bastard, ... Cell 181 (6), 1194-1199, 2020 | 268 | 2020 |
| DPY19L2 deletion as a major cause of globozoospermia I Koscinski, E ElInati, C Fossard, C Redin, J Muller, JV de la Calle, ... The American Journal of Human Genetics 88 (3), 344-350, 2011 | 231 | 2011 |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome RL Collins, H Brand, CE Redin, C Hanscom, C Antolik, MR Stone, ... Genome biology 18, 1-21, 2017 | 204 | 2017 |
| The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ... Proceedings of the National Academy of Sciences 119 (21), 2022 | 156 | 2022 |
| Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes C Redin, S Le Gras, O Mhamdi, V Geoffroy, C Stoetzel, MC Vincent, ... Journal of medical genetics 49 (8), 502-512, 2012 | 136 | 2012 |
| Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots E ElInati, P Kuentz, C Redin, S Jaber, F Vanden Meerschaut, J Makarian, ... Human molecular genetics 21 (16), 3695-3702, 2012 | 122 | 2012 |
| Mutations in SDCCAG8/NPHP10 cause Bardet-Biedl syndrome and are associated with penetrant renal disease and absent polydactyly E Schaefer, A Zaloszyc, J Lauer, M Durand, F Stutzmann, ... Molecular syndromology 1 (6), 273-281, 2011 | 111 | 2011 |
| VaRank: a simple and powerful tool for ranking genetic variants V Geoffroy, C Pizot, C Redin, A Piton, N Vasli, C Stoetzel, A Blavier, ... PeerJ 3, e796, 2015 | 91 | 2015 |
| Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A LM Bronicki, C Redin, S Drunat, A Piton, M Lyons, S Passemard, ... European Journal of Human Genetics 23 (11), 1482-1487, 2015 | 83 | 2015 |
| Genes and pathways regulated by androgens in human neural cells, potential candidates for the male excess in autism spectrum disorder A Quartier, L Chatrousse, C Redin, C Keime, N Haumesser, ... Biological Psychiatry 84 (4), 239-252, 2018 | 81 | 2018 |
| Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome E Schaefer, C Stoetzel, S Scheidecker, V Geoffroy, MK Prasad, C Redin, ... Journal of human genetics 61 (5), 447-450, 2016 | 79 | 2016 |
| Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome A Quartier, H Poquet, B Gilbert-Dussardier, M Rossi, AS Casteleyn, ... European Journal of Human Genetics 25 (4), 423-431, 2017 | 68 | 2017 |
| Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study M Renaud, M Anheim, EJ Kamsteeg, M Mallaret, F Mochel, S Vermeer, ... JAMA neurology 71 (10), 1305-1310, 2014 | 67 | 2014 |
| Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis Z Ordulu, T Kammin, H Brand, V Pillalamarri, CE Redin, RL Collins, ... The American Journal of Human Genetics 99 (5), 1015-1033, 2016 | 65 | 2016 |
