| Histone deacetylase 9 couples neuronal activity to muscle chromatin acetylation and gene expression A Mejat, F Ramond, R Bassel-Duby, S Khochbin, EN Olson, L Schaeffer Nature neuroscience 8 (3), 313-321, 2005 | 209 | 2005 |
| WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 129 | 2018 |
| RNA splicing and editing modulation of 5-HT2C receptor function: relevance to anxiety and aggression in VGV mice CBP Martin, F Ramond, DT Farrington, AS Aguiar, C Chevarin, ... Molecular psychiatry 18 (6), 656-665, 2013 | 90 | 2013 |
| Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction F Ramond, A Janin, S Di Filippo, V Chanavat, L Chalabreysse, ... Clinical genetics 91 (1), 126-130, 2017 | 47 | 2017 |
| Histone deacetylase 6 is a FoxO transcription factor-dependent effector in skeletal muscle atrophy F Ratti, F Ramond, V Moncollin, T Simonet, G Milan, A Méjat, JL Thomas, ... Journal of Biological Chemistry 290 (7), 4215-4224, 2015 | 43 | 2015 |
| Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature V Carmignac, S Nambot, D Lehalle, P Callier, S Moortgat, V Benoit, ... Clinical Genetics 98 (1), 43-55, 2020 | 41 | 2020 |
| Natural history study of STXBP1-developmental and epileptic encephalopathy into adulthood H Stamberger, D Crosiers, G Balagura, CM Bonardi, A Basu, G Cantalupo, ... Neurology 99 (3), e221-e233, 2022 | 38 | 2022 |
| Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management. N Chatron, M Till, C Abel, C Bardel, F Ramond, D Sanlaville, ... Ultrasound in obstetrics & gynecology: the official journal of the …, 2019 | 32 | 2019 |
| AICA‐ribosiduria due to ATIC deficiency: delineation of the phenotype with three novel cases, and long‐term update on the first case F Ramond, M Rio, B Héron, A Imbard, S Marie, K Billiemaz, ... Journal of inherited metabolic disease 43 (6), 1254-1264, 2020 | 29 | 2020 |
| Leukoencephalopathy with calcifications and cysts: genetic and phenotypic spectrum YJ Crow, H Marshall, GI Rice, L Seabra, EM Jenkinson, K Baranano, ... American Journal of Medical Genetics Part A 185 (1), 15-25, 2021 | 26 | 2021 |
| Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: left main coronary artery atresia causing sudden death F Ramond, S Duband, P Croisille, H Cavé, G Teyssier, V Adouard, ... European Journal of Medical Genetics 60 (6), 299-302, 2017 | 21 | 2017 |
| Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms F Ramond, I Quadrio, L Le Vavasseur, H Chaumet, F Boyer, M Bost, ... Molecular Genetics & Genomic Medicine 7 (10), e00881, 2019 | 11 | 2019 |
| The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered J Brinkmann, C Lissewski, V Pinna, Y Vial, F Pantaleoni, F Lepri, ... European Journal of Human Genetics 29 (3), 524-527, 2021 | 10 | 2021 |
| BAYLOR-HOPKINS CENTER FOR Mendelian, G., Brunner, HG, Sutton, VR, Lupski, JR & Carvalho, CMB 2018. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow … JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... Am J Hum Genet 102, 27-43, 0 | 9 | |
| Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS L Mazzola, KL Oliver, A Labalme, B Baykan, M Muona, TH Joensuu, ... Annals of neurology 89 (2), 402-407, 2021 | 7 | 2021 |
| Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity R Holt, D Goudie, AD Verde, A Gardham, F Ramond, A Putoux, A Sarkar, ... Ophthalmic Genetics 43 (6), 809-816, 2022 | 5 | 2022 |
| Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface … B Poreau, F Ramond, R Harbuz, V Satre, C Barro, C Vettier, V Adouard, ... American Journal of Medical Genetics Part A 179 (4), 650-654, 2019 | 4 | 2019 |
| 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 |
| Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome F Ramond, C Dalgliesh, M Grimmel, O Wechsberg, A Vetro, R Guerrini, ... Genetics in Medicine 25 (4), 100003, 2023 | 3 | 2023 |
| Arthritis associated to cardio-facio-cutaneous syndrome related to a MAP2K1 mutation P Bochet, F Ramond, R Touraine, T Thomas, H Marotte Joint Bone Spine 87 (2), 169, 2020 | 3 | 2020 |
