| 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 | 329 | 2008 |
| Update on fluoroquinolone resistance in Helicobacter pylori: new mutations leading to resistance and first description of a gyrA polymorphism associated with hypersusceptibility V Cattoir, J Nectoux, C Lascols, L Deforges, JC Delchier, F Megraud, ... International journal of antimicrobial agents 29 (4), 389-396, 2007 | 154 | 2007 |
| Novel FOXG1 mutations associated with the congenital variant of Rett syndrome MA Mencarelli, A Spanhol-Rosseto, R Artuso, D Rondinella, R De Filippis, ... Journal of medical genetics 47 (1), 49-53, 2010 | 133 | 2010 |
| A quantitative gene expression study suggests a role for angiopoietins in focal nodular hyperplasia V Paradis, I Bièche, D Dargère, I Laurendeau, J Nectoux, C Degott, ... Gastroenterology 124 (3), 651-659, 2003 | 130 | 2003 |
| Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant N Bahi-Buisson, J Nectoux, B Girard, H Van Esch, T De Ravel, ... Neurogenetics 11, 241-249, 2010 | 100 | 2010 |
| Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes C Delépine, H Meziane, J Nectoux, M Opitz, AB Smith, C Ballatore, ... Human molecular genetics 25 (1), 146-157, 2016 | 69 | 2016 |
| Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy H Rosas-Vargas, N Bahi-Buisson, C Philippe, J Nectoux, B Girard, ... Journal of Medical Genetics 45 (3), 172-178, 2008 | 68 | 2008 |
| A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy R De Cid, R Ben Yaou, C Roudaut, K Charton, S Baulande, F Leturcq, ... Neurology 85 (24), 2126-2135, 2015 | 60 | 2015 |
| Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization GL O’grady, HA Best, TE Sztal, V Schartner, M Sanjuan-Vazquez, ... The American Journal of Human Genetics 99 (5), 1086-1105, 2016 | 58 | 2016 |
| The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome J Nectoux, N Bahi-Buisson, I Guellec, J Coste, ND Roux, H Rosas, ... Neurology 70 (22_part_2), 2145-2151, 2008 | 58 | 2008 |
| Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis C Louvrier, E Pasmant, A Briand-Suleau, J Cohen, P Nitschké, J Nectoux, ... Neuro-oncology 20 (7), 917-929, 2018 | 54 | 2018 |
| A FOXG1 mutation in a boy with congenital variant of Rett syndrome T Le Guen, N Bahi-Buisson, J Nectoux, N Boddaert, Y Fichou, B Diebold, ... Neurogenetics 12, 1-8, 2011 | 53 | 2011 |
| Could digital PCR be an alternative as a non-invasive prenatal test for trisomy 21: a proof of concept study LA El Khattabi, C Rouillac-Le Sciellour, D Le Tessier, A Luscan, ... PloS one 11 (5), e0155009, 2016 | 51 | 2016 |
| Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non‐invasive prenatal diagnosis of achondroplasia L Orhant, O Anselem, M Fradin, PH Becker, C Beugnet, N Deburgrave, ... Prenatal diagnosis 36 (5), 397-406, 2016 | 50 | 2016 |
| Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome C Delépine, J Nectoux, F Letourneur, V Baud, J Chelly, P Billuart, ... Neuromolecular medicine 17, 353-363, 2015 | 45 | 2015 |
| Maternal origin of a novel C‐terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome J Nectoux, D Heron, M Tallot, J Chelly, T Bienvenu Clinical genetics 70 (1), 29-33, 2006 | 42 | 2006 |
| An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain Y Fichou, J Nectoux, N Bahi-Buisson, J Chelly, T Bienvenu Journal of human genetics 56 (1), 52-57, 2011 | 41 | 2011 |
| Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders R White, G Ho, S Schmidt, IE Scheffer, A Fischer, SC Yendle, T Bienvenu, ... Twin Research and Human Genetics 13 (2), 168-178, 2010 | 40 | 2010 |
| Mosaic parental germline mutations causing recurrent forms of malformations of cortical development JL Zillhardt, K Poirier, L Broix, N Lebrun, A Elmorjani, J Martinovic, ... European Journal of Human Genetics 24 (4), 611-614, 2016 | 39 | 2016 |
| Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients C Papadopoulos, P LaforÊt, J Nectoux, T Stojkovic, K Wahbi, RY Carlier, ... Muscle & nerve 56 (6), 1096-1100, 2017 | 38 | 2017 |
