| 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 | 50 | 2019 |
| MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis CCY Mak, D Doherty, AE Lin, N Vegas, MT Cho, G Viot, C Dimartino, ... Brain 143 (1), 55-68, 2020 | 47 | 2020 |
| Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome JL Alessandri, CT Gordon, ML Jacquemont, N Gruchy, NF Ajeawung, ... European Journal of Human Genetics 26 (3), 340-349, 2018 | 39 | 2018 |
| Role of VAMP7-dependent secretion of reticulon 3 in neurite growth J Wojnacki, S Nola, P Bun, B Cholley, F Filippini, MT Pressé, J Lipecka, ... Cell reports 33 (12), 2020 | 30 | 2020 |
| A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations EE Palmer, R Kumar, CT Gordon, M Shaw, L Hubert, R Carroll, M Rio, ... The American Journal of Human Genetics 101 (6), 995-1005, 2017 | 30 | 2017 |
| Role of VAMP7-dependent secretion of reticulon 3 in neurite growth J Wojnacki, S Nola, P Bun, B Cholley, F Filippini, MT Pressé, J Lipecka, ... Cell reports 35 (2), 2021 | 9 | 2021 |
| Secretion of VGF relies on the interplay between LRRK2 and post-Golgi v-SNAREs F Filippini, S Nola, A Zahraoui, K Roger, M Esmaili, J Sun, J Wojnacki, ... Cell Reports 42 (3), 2023 | 8 | 2023 |
| 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 |
| Unveiling defects of secretion mechanisms in Parkinson’s disease F Filippini, T Galli Journal of Biological Chemistry, 107603, 2024 | 1 | 2024 |
| alpha-synuclein and deficits of membrane trafficking in Parkinson's Disease A Sarchione, A Marchand, F Filippini, T Galli, JM Taymans, ... | | 2021 |
| LRRK2 Interacts with Endosomal Vesicular SNAREs and Regulates Secretion F Filippini, S Nola, A Zahraoui, K Roger, J Wojnacki, P Bun, S Blachon, ... Available at SSRN 3943618, 0 | | |
