| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 103 | 2018 |
| Mutations in ACTL6B cause neurodevelopmental deficits and epilepsy and lead to loss of dendrites in human neurons S Bell, J Rousseau, H Peng, Z Aouabed, P Priam, JF Theroux, M Jefri, ... The American Journal of Human Genetics 104 (5), 815-834, 2019 | 85 | 2019 |
| Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... The American Journal of Human Genetics 104 (1), 164-178, 2019 | 78 | 2019 |
| Mutations in GPAA1, encoding a GPI transamidase complex protein, cause developmental delay, epilepsy, cerebellar atrophy, and osteopenia TTM Nguyen, Y Murakami, E Sheridan, S Ehresmann, J Rousseau, ... The American Journal of Human Genetics 101 (5), 856-865, 2017 | 63 | 2017 |
| Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ... The American Journal of Human Genetics 104 (3), 530-541, 2019 | 48 | 2019 |
| Loss of oxidation resistance 1, OXR1, is associated with an autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction J Wang, J Rousseau, E Kim, S Ehresmann, YT Cheng, L Duraine, Z Zuo, ... The American Journal of Human Genetics 105 (6), 1237-1253, 2019 | 47 | 2019 |
| A syndromic neurodevelopmental disorder caused by mutations in SMARCD1, a core SWI/SNF subunit needed for context-dependent neuronal gene regulation in flies KCJ Nixon, J Rousseau, MH Stone, M Sarikahya, S Ehresmann, S Mizuno, ... The American Journal of Human Genetics 104 (4), 596-610, 2019 | 47 | 2019 |
| A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL E Beauregard-Lacroix, S Salian, H Kim, S Ehresmann, G DʹAmours, ... European Journal of Human Genetics 28 (4), 461-468, 2020 | 29 | 2020 |
| De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy J Humbert, S Salian, P Makrythanasis, G Lemire, J Rousseau, ... The American Journal of Human Genetics 107 (3), 564-574, 2020 | 26 | 2020 |
| Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype I Shelihan, S Ehresmann, C Magnani, F Forzano, C Baldo, ... Human genetics 137, 905-909, 2018 | 18 | 2018 |
| Undiagnosed Diseases Network (2019). Expanding the spectrum of BAF-related disorders: De novo variants in SMARCC2 cause a syndrome with intellectual disability and … K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... Am. J. Hum. Genet 104, 164-178, 0 | 11 | |
| Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration V Tran, S Nahlé, A Robert, I Desanlis, R Killoran, S Ehresmann, ... Nature communications 13 (1), 7077, 2022 | 5 | 2022 |
| CAUSES Study. Deciphering Developmental Disorders study Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual … B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ... Am. J. Hum. Genet 104, 530-541, 2019 | 5 | 2019 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun 9: 4619 L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... | 5 | 2018 |
| Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ... Nature communications 10 (1), 883, 2019 | 4 | 2019 |
| Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans L Guo, S Salian, J Xue, N Rath, J Rousseau, H Kim, S Ehresmann, ... The American Journal of Human Genetics 110 (7), 1068-1085, 2023 | 2 | 2023 |
| Identification of SMARCD1 as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in Drosophila KCJ Nixon, J Rousseau, MH Stone, M Sarikahya, S Ehresmann, S Mizuno, ... BioRxiv, 422188, 2018 | 2 | 2018 |
| 16p13. 3 homologous sequences underlie microdeletions encompassing TBC1D24 and ATP6V0C P Campeau, B Mazel, E Coleman, J Rousseau, S Kailasam, N Ajeawung, ... | | 2024 |
| The anticancer potential of the CLK kinases inhibitors 1C8 and GPS167 revealed by their impact on the epithelial-mesenchymal transition and the antiviral immune response L Shkreta, J Toutant, A Delannoy, D Durantel, A Salvetti, S Ehresmann, ... Oncotarget 15, 313, 2024 | | 2024 |
| P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis C Tremblay-Laganière, S Ehresmann, A Levtova, J Gauthier, H Fu, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
