| Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature … PY Maillard, S Baer, É Schaefer, B Desnous, N Villeneuve, A Lépine, ... Epilepsia 63 (10), 2519-2533, 2022 | 32 | 2022 |
| Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome L van der Laan, K Rooney, M Alders, R Relator, H McConkey, J Kerkhof, ... International Journal of Molecular Sciences 23 (22), 13664, 2022 | 9 | 2022 |
| The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant M Aerden, AS Denommé-Pichon, D Bonneau, AL Bruel, J Delanne, ... European Journal of Human Genetics 31 (4), 461-468, 2023 | 8 | 2023 |
| Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool F Tran Mau-Them, J Delanne, AS Denommé-Pichon, H Safraou, AL Bruel, ... Frontiers in Genetics 14, 1099995, 2023 | 2 | 2023 |
| A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy R M’Kacher, M Miguet, PY Maillard, B Colicchio, S Scheidecker, W Najar, ... Genes 13 (10), 1762, 2022 | 1 | 2022 |
| Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome: International Journal of Molecular Sciences L van der Laan, K Rooney, M Alders, R Relator, H McConkey, J Kerkhof, ... | | 2022 |
