| Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ... Nature genetics 41 (3), 359-364, 2009 | 471 | 2009 |
| Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries V Boeva, C Louis-Brennetot, A Peltier, S Durand, C Pierre-Eugène, ... Nature genetics 49 (9), 1408-1413, 2017 | 403 | 2017 |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ... Nature genetics 42 (7), 619-625, 2010 | 323 | 2010 |
| KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ... Nature genetics 43 (6), 601-606, 2011 | 252 | 2011 |
| PrP polymorphisms associated with natural scrapie discovered by denaturing gradient gel electrophoresis JL Laplanche, J Chatelain, D Westaway, S Thomas, M Dussaucy, ... Genomics 15 (1), 30-37, 1993 | 227 | 1993 |
| Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development S Benko, CT Gordon, D Mallet, R Sreenivasan, C Thauvin-Robinet, ... Journal of medical genetics 48 (12), 825-830, 2011 | 208 | 2011 |
| Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6 C Golzio, J Martinovic-Bouriel, S Thomas, S Mougou-Zrelli, ... The American Journal of Human Genetics 80 (6), 1179-1187, 2007 | 203 | 2007 |
| TCTN3 mutations cause Mohr-Majewski syndrome S Thomas, M Legendre, S Saunier, B Bessières, C Alby, M Bonnière, ... The American Journal of Human Genetics 91 (2), 372-378, 2012 | 145 | 2012 |
| Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome V Malan, D Rajan, S Thomas, AC Shaw, HL dit Picard, V Layet, M Till, ... The American Journal of Human Genetics 87 (2), 189-198, 2010 | 145 | 2010 |
| Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model JC McIntyre, EE Davis, A Joiner, CL Williams, IC Tsai, PM Jenkins, ... Nature medicine 18 (9), 1423-1428, 2012 | 143 | 2012 |
| Human neural crest cells display molecular and phenotypic hallmarks of stem cells S Thomas, M Thomas, P Wincker, C Babarit, P Xu, MC Speer, A Munnich, ... Human Molecular Genetics 17 (21), 3411-3425, 2008 | 130 | 2008 |
| A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium S Thomas, KJ Wright, SL Corre, A Micalizzi, M Romani, A Abhyankar, ... Human mutation 35 (1), 137-146, 2014 | 129 | 2014 |
| A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS EH Cong, AA Bizet, O Boyer, S Woerner, O Gribouval, E Filhol, C Arrondel, ... Journal of the American Society of Nephrology 25 (11), 2435-2443, 2014 | 128 | 2014 |
| TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone EC Roberson, WE Dowdle, A Ozanturk, FR Garcia-Gonzalo, C Li, ... Journal of Cell Biology 209 (1), 129-142, 2015 | 110 | 2015 |
| Discontinuing β-lactam treatment after 3 days for patients with community-acquired pneumonia in non-critical care wards (PTC): a double-blind, randomised, placebo-controlled … A Dinh, J Ropers, C Duran, B Davido, L Deconinck, M Matt, O Senard, ... The Lancet 397 (10280), 1195-1203, 2021 | 109 | 2021 |
| Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies M Iannicelli, F Brancati, S Mougou‐Zerelli, A Mazzotta, S Thomas, ... Human mutation 31 (5), E1319-E1331, 2010 | 99 | 2010 |
| CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation S Mougou‐Zerelli, S Thomas, E Szenker, S Audollent, N Elkhartoufi, ... Human mutation 30 (11), 1574-1582, 2009 | 99 | 2009 |
| Evolutionarily assembled cis-regulatory module at a human ciliopathy locus JH Lee, JL Silhavy, JE Lee, L Al-Gazali, S Thomas, EE Davis, SL Bielas, ... Science 335 (6071), 966-969, 2012 | 96 | 2012 |
| Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome C Alby, K Piquand, C Huber, A Megarbané, A Ichkou, M Legendre, ... The American Journal of Human Genetics 97 (2), 311-318, 2015 | 90 | 2015 |
| Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation V Grampa, M Delous, M Zaidan, G Odye, S Thomas, N Elkhartoufi, ... PLoS genetics 12 (3), e1005894, 2016 | 88 | 2016 |
