| MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice S Tomé, K Manley, JP Simard, GW Clark, MM Slean, M Swami, ... PLoS Genet 9 (2), e1003280, 2013 | 174 | 2013 |
| Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues A López Castel, M Nakamori, S Tome, D Chitayat, G Gourdon, ... Human molecular genetics 20 (1), 1-15, 2011 | 153 | 2011 |
| MSH2 ATPase domain mutation affects CTG• CAG repeat instability in transgenic mice S Tomé, I Holt, W Edelmann, GE Morris, A Munnich, CE Pearson, ... PLoS Genet 5 (5), e1000482, 2009 | 112 | 2009 |
| CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy L Barbé, S Lanni, A López-Castel, S Franck, C Spits, K Keymolen, ... The American Journal of Human Genetics 100 (3), 488-505, 2017 | 104 | 2017 |
| Tissue-and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus JD Cleary, S Tomé, AL Castel, GB Panigrahi, L Foiry, KA Hagerman, ... Nature structural & molecular biology 17 (9), 1079, 2010 | 69 | 2010 |
| Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression … AG Mason, S Tomé, JP Simard, RT Libby, TK Bammler, RP Beyer, ... Human molecular genetics 23 (6), 1606-1618, 2014 | 62 | 2014 |
| Genome editing of expanded CTG repeats within the human DMPK gene reduces nuclear RNA foci in the muscle of DM1 mice ML Scrudato, K Poulard, C Sourd, S Tomé, AF Klein, G Corre, A Huguet, ... Molecular Therapy 27 (8), 1372-1388, 2019 | 55 | 2019 |
| Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism S Tomé, E Dandelot, C Dogan, A Bertrand, D Geneviève, Y Péréon, ... Human mutation 39 (7), 970-982, 2018 | 47 | 2018 |
| Maternal germline-specific effect of DNA ligase I on CTG/CAG instability S Tomé, GB Panigrahi, A López Castel, L Foiry, DW Melton, G Gourdon, ... Human molecular genetics 20 (11), 2131-2143, 2011 | 46 | 2011 |
| Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues S Tomé, JP Simard, MM Slean, I Holt, GE Morris, K Wojciechowicz, ... DNA repair 12 (1), 46-52, 2013 | 45 | 2013 |
| DM1 phenotype variability and triplet repeat instability: challenges in the development of new therapies S Tomé, G Gourdon International journal of molecular sciences 21 (2), 457, 2020 | 36 | 2020 |
| Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1 A Mangin, L de Pontual, YC Tsai, L Monteil, M Nizon, P Boisseau, ... International Journal of Molecular Sciences 22 (5), 2616, 2021 | 25 | 2021 |
| The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress I Holt, L Thanh Lam, S Tomé, DG Wansink, H te Riele, G Gourdon, ... Journal of cellular biochemistry 112 (6), 1612-1621, 2011 | 14 | 2011 |
| Non-radioactive detection of trinucleotide repeat size variability S Tomé, A Nicole, M Gomes-Pereira, G Gourdon PLoS currents 6, 2014 | 11 | 2014 |
| Fast Assays to Detect Interruptions in CTG. CAG Repeat Expansions S Tomé, G Gourdon Trinucleotide Repeats, 11-23, 2020 | 6 | 2020 |
| Genetic modifiers of CAG. CTG repeat instability in Huntington’s disease mouse models E Dandelot, S Tomé Huntington’s Disease-Molecular Pathogenesis and Current Models, 2017 | 4 | 2017 |
| How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients S Tome, J Ziegle, Y Tsai, J Harting, J Bonnefont, G Bassez, L Aro, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 629-629, 2020 | | 2020 |
| In vivo genomic deletion of expanded CTG repeats reduces pathological signs of myotonic dystrophy type 1 M Lo Scrudato, K Poulard, C Sourd, S Tome, A Klein, A Huguet, D Furling, ... HUMAN GENE THERAPY 29 (12), A101-A101, 2018 | | 2018 |
| CRISPR/Cas9-mediated genome editing corrects splicing alterations in myotonic dystrophy type 1 ML Scrudato, K Poulard, A Klein, S Tomé, S Martin, G Gourdon, D Furling, ... Neuromuscular Disorders 27, S181, 2017 | | 2017 |
| Instabilité des triplets répétés CTG dans la dystrophie myotonique de Steinert: rôle des protéines MSH2 et MSH3 S Tomé Paris 7, 2009 | | 2009 |
