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| GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction G Lesca, G Rudolf, N Bruneau, N Lozovaya, A Labalme, N Boutry-Kryza, ... Nature genetics 45 (9), 1061-1066, 2013 | 480 | 2013 |
| The adult form of Niemann–Pick disease type C M Sévin, G Lesca, N Baumann, G Millat, O Lyon-Caen, MT Vanier, ... Brain 130 (1), 120-133, 2007 | 470 | 2007 |
| Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ... Journal of medical genetics 51 (11), 724-736, 2014 | 291 | 2014 |
| Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene E Eymard-Pierre, G Lesca, S Dollet, FM Santorelli, M di Capua, E Bertini, ... The American Journal of Human Genetics 71 (3), 518-527, 2002 | 264 | 2002 |
| Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network G Lesca, C Olivieri, N Burnichon, F Pagella, MF Carette, ... Genetics in Medicine 9 (1), 14-22, 2007 | 237 | 2007 |
| Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease) V Cottin, S Dupuis-Girod, G Lesca, JF Cordier Respiration 74 (4), 361-378, 2007 | 236 | 2007 |
| Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations E Buscarini, H Plauchu, G Garcia Tsao, RI White Jr, C Sabbà, F Miller, ... Liver International 26 (9), 1040-1046, 2006 | 220 | 2006 |
| Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ... The American Journal of Human Genetics 106 (3), 356-370, 2020 | 205 | 2020 |
| Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism G Lesca, G Rudolf, A Labalme, E Hirsch, A Arzimanoglou, P Genton, ... Epilepsia 53 (9), 1526-1538, 2012 | 201 | 2012 |
| The landscape of epilepsy-related GATOR1 variants S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ... Genetics in Medicine 21 (2), 398-408, 2019 | 188 | 2019 |
| GRIN2A-related disorders: genotype and functional consequence predict phenotype V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ... Brain 142 (1), 80-92, 2019 | 175 | 2019 |
| FXTAS: new insights and the need for revised diagnostic criteria E Apartis, A Blancher, WG Meissner, L Guyant-Maréchal, D Maltête, ... Neurology 79 (18), 1898-1907, 2012 | 172 | 2012 |
| Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ... Journal of medical genetics 53 (8), 511-522, 2016 | 168 | 2016 |
| DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy F Picard, P Makrythanasis, V Navarro, S Ishida, J de Bellescize, D Ville, ... Neurology 82 (23), 2101-2106, 2014 | 163 | 2014 |
| Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females C Depienne, O Trouillard, D Bouteiller, I Gourfinkel‐An, K Poirier, F Rivier, ... Human mutation 32 (1), E1959-E1975, 2011 | 156 | 2011 |
| Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France G Lesca, H Plauchu, F Coulet, S Lefebvre, G Plessis, S Odent, S Rivière, ... Human mutation 23 (4), 289-299, 2004 | 154 | 2004 |
| Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients E Panagiotakaki, E De Grandis, M Stagnaro, EL Heinzen, C Fons, ... Orphanet journal of rare diseases 10, 1-13, 2015 | 148 | 2015 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 145 | 2017 |
| Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life J Thévenon, M Milh, F Feillet, J St-Onge, Y Duffourd, C Jugé, A Roubertie, ... The American Journal of Human Genetics 95 (1), 113-120, 2014 | 126 | 2014 |
