| Suggested guidelines for the diagnosis and management of urea cycle disorders J Häberle, N Boddaert, A Burlina, A Chakrapani, M Dixon, M Huemer, ... Orphanet journal of rare diseases 7, 1-30, 2012 | 717 | 2012 |
| Abnormal cortical voice processing in autism H Gervais, P Belin, N Boddaert, M Leboyer, A Coez, I Sfaello, ... Nature neuroscience 7 (8), 801-802, 2004 | 660 | 2004 |
| Correlated gene expression supports synchronous activity in brain networks J Richiardi, A Altmann, AC Milazzo, C Chang, MM Chakravarty, ... Science 348 (6240), 1241-1244, 2015 | 617 | 2015 |
| Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes D Castel, C Philippe, R Calmon, L Le Dret, N Truffaux, N Boddaert, ... Acta neuropathologica 130, 815-827, 2015 | 589 | 2015 |
| Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study N Boddaert, N Chabane, H Gervais, CD Good, M Bourgeois, MH Plumet, ... Neuroimage 23 (1), 364-369, 2004 | 565 | 2004 |
| The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome M Delous, L Baala, R Salomon, C Laclef, J Vierkotten, K Tory, C Golzio, ... Nature genetics 39 (7), 875-881, 2007 | 564 | 2007 |
| De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy G Barcia, MR Fleming, A Deligniere, VR Gazula, MR Brown, M Langouet, ... Nature genetics 44 (11), 1255-1259, 2012 | 506 | 2012 |
| Targeted therapy in patients with PIK3CA-related overgrowth syndrome Q Venot, T Blanc, SH Rabia, L Berteloot, S Ladraa, JP Duong, E Blanc, ... Nature 558 (7711), 540-546, 2018 | 482 | 2018 |
| Selective iron chelation in Friedreich ataxia: biologic and clinical implications N Boddaert, KH Le Quan Sang, A Rötig, A Leroy-Willig, S Gallet, ... Blood, The Journal of the American Society of Hematology 110 (1), 401-408, 2007 | 467 | 2007 |
| Autism, the superior temporal sulcus and social perception M Zilbovicius, I Meresse, N Chabane, F Brunelle, Y Samson, N Boddaert Trends in neurosciences 29 (7), 359-366, 2006 | 466 | 2006 |
| Temporal lobe dysfunction in childhood autism: a PET study M Zilbovicius, N Boddaert, P Belin, JB Poline, P Remy, JF Mangin, ... American Journal of Psychiatry 157 (12), 1988-1993, 2000 | 413 | 2000 |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA TB Haack, P Hogarth, MC Kruer, A Gregory, T Wieland, T Schwarzmayr, ... The American journal of human genetics 91 (6), 1144-1149, 2012 | 353 | 2012 |
| Clinical, radiologic, pathologic, and molecular characteristics of long-term survivors of diffuse intrinsic pontine glioma (DIPG): a collaborative report from the International … LM Hoffman, SEM Veldhuijzen van Zanten, N Colditz, J Baugh, B Chaney, ... Journal of clinical oncology 36 (19), 1963-1972, 2018 | 344 | 2018 |
| Key clinical features to identify girls with CDKL5 mutations N Bahi-Buisson, J Nectoux, H Rosas-Vargas, M Milh, N Boddaert, ... Brain 131 (10), 2647-2661, 2008 | 334 | 2008 |
| Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with … J Amiel, M Rio, L De Pontual, R Redon, V Malan, N Boddaert, P Plouin, ... The American Journal of Human Genetics 80 (5), 988-993, 2007 | 333 | 2007 |
| CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures J Mollet, A Delahodde, V Serre, D Chretien, D Schlemmer, A Lombes, ... The American Journal of Human Genetics 82 (3), 623-630, 2008 | 328 | 2008 |
| The wide spectrum of tubulinopathies: what are the key features for the diagnosis? N Bahi-Buisson, K Poirier, F Fourniol, Y Saillour, S Valence, N Lebrun, ... Brain 137 (6), 1676-1700, 2014 | 299 | 2014 |
| Perception of complex sounds in autism: abnormal auditory cortical processing in children N Boddaert, N Chabane, P Belin, M Bourgeois, V Royer, C Barthelemy, ... American Journal of Psychiatry 161 (11), 2117-2120, 2004 | 298 | 2004 |
| Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects K Poirier, Y Saillour, N Bahi-Buisson, XH Jaglin, C Fallet-Bianco, ... Human molecular genetics 19 (22), 4462-4473, 2010 | 297 | 2010 |
| Long‐term efficacy of the interleukin‐1 receptor antagonist anakinra in ten patients with neonatal‐onset multisystem inflammatory disease/chronic infantile neurologic … B Neven, I Marvillet, C Terrada, A Ferster, N Boddaert, V Couloignier, ... Arthritis & Rheumatism: Official Journal of the American College of …, 2010 | 285 | 2010 |
