| Rett syndrome: revised diagnostic criteria and nomenclature JL Neul, WE Kaufmann, DG Glaze, J Christodoulou, AJ Clarke, ... Annals of neurology 68 (6), 944-950, 2010 | 1517 | 2010 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 605 | 2015 |
| Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly K Poirier, N Lebrun, L Broix, G Tian, Y Saillour, C Boscheron, E Parrini, ... Nature genetics 45 (6), 639-647, 2013 | 504 | 2013 |
| Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females C Depienne, D Bouteiller, B Keren, E Cheuret, K Poirier, O Trouillard, ... PLoS genetics 5 (2), e1000381, 2009 | 455 | 2009 |
| Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ... Brain 133 (3), 655-670, 2010 | 444 | 2010 |
| Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria XH Jaglin, K Poirier, Y Saillour, E Buhler, G Tian, N Bahi-Buisson, ... Nature genetics 41 (6), 746-752, 2009 | 387 | 2009 |
| ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation T Bienvenu, K Poirier, G Friocourt, N Bahi, D Beaumont, F Fauchereau, ... Human molecular genetics 11 (8), 981-991, 2002 | 349 | 2002 |
| 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 | 343 | 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 | 312 | 2014 |
| Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation A Battaglia, HE Hoyme, B Dallapiccola, E Zackai, L Hudgins, ... Pediatrics 121 (2), 404-410, 2008 | 309 | 2008 |
| 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 | 306 | 2010 |
| Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A) K Poirier, DA Keays, F Francis, Y Saillour, N Bahi, S Manouvrier, ... Human mutation 28 (11), 1055-1064, 2007 | 279 | 2007 |
| Cryo-EM reveals how human cytoplasmic dynein is auto-inhibited and activated K Zhang, HE Foster, A Rondelet, SE Lacey, N Bahi-Buisson, AW Bird, ... Cell 169 (7), 1303-1314. e18, 2017 | 267 | 2017 |
| High prevalence of SLC6A8 deficiency in X-linked mental retardation EH Rosenberg, LS Almeida, T Kleefstra, RS deGrauw, HG Yntema, ... The American Journal of Human Genetics 75 (1), 97-105, 2004 | 239 | 2004 |
| The three stages of epilepsy in patients with CDKL5 mutations N Bahi‐Buisson, A Kaminska, N Boddaert, M Rio, A Afenjar, M Gérard, ... Epilepsia 49 (6), 1027-1037, 2008 | 230 | 2008 |
| Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities M Breuss, JIT Heng, K Poirier, G Tian, XH Jaglin, Z Qu, A Braun, T Gstrein, ... Cell reports 2 (6), 1554-1562, 2012 | 206 | 2012 |
| Recessive and dominant de novo ITPR1 mutations cause Gillespie syndrome S Gerber, KJ Alzayady, L Burglen, D Brémond-Gignac, V Marchesin, ... The American Journal of Human Genetics 98 (5), 971-980, 2016 | 159 | 2016 |
| MRI findings in 77 children with non-syndromic autistic disorder N Boddaert, M Zilbovicius, A Philipe, L Robel, M Bourgeois, C Barthélemy, ... PLOS one 4 (2), e4415, 2009 | 154 | 2009 |
| Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations N Bahi-Buisson, K Poirier, N Boddaert, Y Saillour, L Castelnau, N Philip, ... Journal of medical genetics 45 (10), 647-653, 2008 | 149 | 2008 |
| GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex N Bahi-Buisson, K Poirier, N Boddaert, C Fallet-Bianco, N Specchio, ... Brain 133 (11), 3194-3209, 2010 | 142 | 2010 |
