| Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease L Allou, S Julia, D Amsallem, S El Chehadeh, L Lambert, J Thevenon, ... Clinical Genetics 91 (3), 431-440, 2017 | 59 | 2017 |
| DYRK1A mutations in two unrelated patients L Ruaud, C Mignot, A Guët, C Ohl, C Nava, D Héron, B Keren, ... European journal of medical genetics 58 (3), 168-174, 2015 | 44 | 2015 |
| Severe Phenotype in Patients with Large Deletions of NF1 L Pacot, D Vidaud, A Sabbagh, I Laurendeau, A Briand-Suleau, ... Cancers 13 (12), 2963, 2021 | 29 | 2021 |
| Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort N Rive Le Gouard, A Jacquinet, L Ruaud, H Deleersnyder, F Ageorges, ... Clinical Genetics 99 (4), 519-528, 2021 | 23 | 2021 |
| Aquagenic palmoplantar keratoderma as a CFTR-related disorder C Cabrol, T Bienvenu, L Ruaud, E Girodon, G Noacco, M Delobeau, ... Acta Dermato-Venereologica 96 (6), 848-849, 2016 | 22 | 2016 |
| TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22. 2 deletions H Hijazi, LM Reis, D Pehlivan, JA Bernstein, M Muriello, E Syverson, ... The American Journal of Human Genetics 109 (12), 2270-2282, 2022 | 13 | 2022 |
| Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function L Ruaud, GI Rice, C Cabrol, J Piard, M Rodero, L van Eyk, ... Human mutation 39 (8), 1076-1080, 2018 | 13 | 2018 |
| Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish D Khatri, A Putoux, A Cologne, S Kaltenbach, A Besson, E Bertiaux, ... Proceedings of the National Academy of Sciences 120 (9), e2102569120, 2023 | 12 | 2023 |
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ... Genetics in Medicine 25 (4), 100018, 2023 | 11 | 2023 |
| Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 J Wang, A Foroutan, E Richardson, SA Skinner, J Reilly, J Kerkhof, ... European Journal of Human Genetics 30 (4), 420-427, 2022 | 11 | 2022 |
| Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder J Halewa, S Marouillat, M Dixneuf, RA Thépault, DC Ung, N Chatron, ... Human Mutation 42 (7), 848-861, 2021 | 10 | 2021 |
| Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity M Serey‐Gaut, M Scala, B Reversade, L Ruaud, C Cabrol, F Musacchia, ... American Journal of Medical Genetics Part A 182 (6), 1466-1472, 2020 | 9 | 2020 |
| Neurological outcome in WDR62 primary microcephaly L Ruaud, S Drunat, M Elmaleh‐Bergès, A Ernault, S Guilmin Crepon, ... Developmental Medicine & Child Neurology 64 (4), 509-517, 2022 | 8 | 2022 |
| EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder J Lévy, B Schell, H Nasser, M Rachid, L Ruaud, N Couque, P Callier, ... Clinical Genetics 100 (4), 396-404, 2021 | 7 | 2021 |
| Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature L Ruaud, N Roux, L Boutaud, B Bessières, F Ageorges, A Achaiaa, ... Birth Defects Research 114 (10), 499-504, 2022 | 6 | 2022 |
| Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature A Parra, R Rabin, J Pappas, P Pascual, M Cazalla, P Arias, ... Genes 14 (6), 1179, 2023 | 5 | 2023 |
| Beyond'speech delay': Expanding the phenotype of BRPF1-related disorder LD Morison, O Van Reyk, E Baker, L Ruaud, N Couque, A Verloes, ... European Journal of Medical Genetics, 104923, 2024 | 4 | 2024 |
| Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis FG Frost, M Morimoto, P Sharma, L Ruaud, N Belnap, DG Calame, ... The American Journal of Human Genetics 110 (4), 663-680, 2023 | 4 | 2023 |
| Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study A Paulet, C Bennett-Ness, F Ageorges, D Trost, A Green, D Goudie, ... European Journal of Human Genetics, 1-6, 2024 | 3 | 2024 |
| WDR62 primary microcephaly A Verloes, L Ruaud, S Drunat, S Passemard | 3 | 2022 |
