| Stalled developmental programs at the root of pediatric brain tumors S Jessa, A Blanchet-Cohen, B Krug, M Vladoiu, M Coutelier, D Faury, ... Nature genetics 51 (12), 1702-1713, 2019 | 244 | 2019 |
| PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ... Brain 137 (1), 69-77, 2014 | 237 | 2014 |
| Histone H3. 3G34-mutant interneuron progenitors co-opt PDGFRA for gliomagenesis CCL Chen, S Deshmukh, S Jessa, D Hadjadj, V Lisi, AF Andrade, D Faury, ... Cell 183 (6), 1617-1633. e22, 2020 | 143 | 2020 |
| A recurrent mutation in CACNA1G alters Cav3. 1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia M Coutelier, I Blesneac, A Monteil, ML Monin, K Ando, E Mundwiller, ... The American Journal of Human Genetics 97 (5), 726-737, 2015 | 127 | 2015 |
| A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies M Coutelier, G Coarelli, ML Monin, J Konop, CS Davoine, C Tesson, ... Brain 140 (6), 1579-1594, 2017 | 125 | 2017 |
| Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes M Coutelier, MB Hammer, G Stevanin, ML Monin, CS Davoine, F Mochel, ... JAMA neurology 75 (5), 591-599, 2018 | 117 | 2018 |
| PEDIA: prioritization of exome data by image analysis TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ... Genetics in Medicine 21 (12), 2807-2814, 2019 | 103 | 2019 |
| Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans Y Wang, J Hersheson, D Lopez, M Hammer, Y Liu, KH Lee, V Pinto, ... Cell reports 16 (1), 79-91, 2016 | 103 | 2016 |
| Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia M Coutelier, C Goizet, A Durr, F Habarou, S Morais, A Dionne-Laporte, ... Brain 138 (8), 2191-2205, 2015 | 103 | 2015 |
| GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia M Coutelier, L Burglen, E Mundwiller, M Abada-Bendib, D Rodriguez, ... Neurology 84 (17), 1751-1759, 2015 | 91 | 2015 |
| Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep M Coutelier, S Andries, S Ghariani, B Dan, C Duyckaerts, ... Neurology 71 (1), 64-66, 2008 | 71 | 2008 |
| K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas S Jessa, A Mohammadnia, AS Harutyunyan, M Hulswit, S Varadharajan, ... Nature genetics 54 (12), 1865-1880, 2022 | 68 | 2022 |
| Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1 I Dorboz, M Coutelier, AT Bertrand, JH Caberg, M Elmaleh-Bergès, ... Orphanet Journal of Rare Diseases 9, 1-6, 2014 | 52 | 2014 |
| Mutations in TGM6 induce the unfolded protein response in SCA35 D Tripathy, B Vignoli, N Ramesh, MJ Polanco, M Coutelier, CD Stephen, ... Human molecular genetics 26 (19), 3749-3762, 2017 | 48 | 2017 |
| Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment T Roux, M Barbier, M Papin, CS Davoine, S Sayah, G Coarelli, P Charles, ... Genetics in Medicine 22 (11), 1851-1862, 2020 | 47 | 2020 |
| Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, A Johnson, ... European Journal of Human Genetics 25 (1), 100-110, 2017 | 42 | 2017 |
| Combining callers improves the detection of copy number variants from whole-genome sequencing M Coutelier, M Holtgrewe, M Jäger, R Flöttman, MA Mensah, ... European Journal of Human Genetics 30 (2), 178-186, 2022 | 39 | 2022 |
| Autosomal dominant cerebellar ataxias: new genes and progress towards treatments G Coarelli, M Coutelier, A Durr The Lancet Neurology 22 (8), 735-749, 2023 | 36 | 2023 |
| SLC25A46 mutations associated with autosomal recessive cerebellar ataxia in North African families MB Hammer, J Ding, F Mochel, G Eleuch-Fayache, P Charles, ... Neurodegenerative diseases 17 (4-5), 208-212, 2017 | 34 | 2017 |
| Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR Santos, K Neveling, ... Scientific reports 8 (1), 14611, 2018 | 32 | 2018 |
