| 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 | 488 | 2012 |
| Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ... Human molecular genetics 23 (12), 3200-3211, 2014 | 270 | 2014 |
| Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy R Nabbout, N Chemaly, M Chipaux, G Barcia, C Bouis, C Dubouch, ... Orphanet journal of rare diseases 8 (1), 1-8, 2013 | 171 | 2013 |
| Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders A Parmeggiani, G Barcia, A Posar, E Raimondi, M Santucci, MC Scaduto Brain and Development 32 (9), 783-789, 2010 | 149 | 2010 |
| Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures X Zhang, J Ling, G Barcia, L Jing, J Wu, BJ Barry, GH Mochida, RS Hill, ... The American Journal of Human Genetics 94 (4), 547-558, 2014 | 144 | 2014 |
| Human slack potassium channel mutations increase positive cooperativity between individual channels GE Kim, J Kronengold, G Barcia, IH Quraishi, HC Martin, E Blair, ... Cell reports 9 (5), 1661-1672, 2014 | 112 | 2014 |
| Autism and coeliac disease G Barcia, A Posar, M Santucci, A Parmeggiani Journal of Autism and Developmental Disorders 38, 407-408, 2008 | 82 | 2008 |
| De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene J Chemin, K Siquier-Pernet, M Nicouleau, G Barcia, A Ahmad, ... Brain 141 (7), 1998-2013, 2018 | 76 | 2018 |
| Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness I Perrault, FF Hamdan, M Rio, JM Capo-Chichi, N Boddaert, JC Décarie, ... The American Journal of Human Genetics 94 (6), 891-897, 2014 | 64 | 2014 |
| Early epileptic encephalopathies associated with STXBP1 mutations: could we better delineate the phenotype? G Barcia, N Chemaly, S Gobin, M Milh, P Van Bogaert, C Barnerias, ... European journal of medical genetics 57 (1), 15-20, 2014 | 60 | 2014 |
| Status epilepticus as a main manifestation of posterior reversible encephalopathy syndrome after pediatric hematopoietic stem cell transplantation DM Cordelli, R Masetti, B Bernardi, G Barcia, V Gentile, C Biagi, A Prete, ... Pediatric Blood & Cancer 58 (5), 785-790, 2012 | 56 | 2012 |
| IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ... Genetics in Medicine 21 (4), 837-849, 2019 | 54 | 2019 |
| Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency L Sánchez-Caballero, B Ruzzenente, L Bianchi, Z Assouline, G Barcia, ... The American Journal of Human Genetics 99 (1), 208-216, 2016 | 52 | 2016 |
| NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with Leigh-like encephalomyopathy D Piekutowska-Abramczuk, Z Assouline, L Mataković, RG Feichtinger, ... The American Journal of Human Genetics 102 (3), 460-467, 2018 | 46 | 2018 |
| KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP M Kuchenbuch, G Barcia, N Chemaly, E Carme, A Roubertie, M Gibaud, ... Brain 142 (10), 2996-3008, 2019 | 42 | 2019 |
| Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype L Ouss, D Leunen, J Laschet, N Chemaly, G Barcia, EM Losito, A Aouidad, ... Epilepsia open 4 (1), 40-53, 2019 | 40 | 2019 |
| Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population H Megahed, M Nicouleau, G Barcia, D Medina-Cano, K Siquier-Pernet, ... Orphanet Journal of Rare Diseases 11 (1), 1-8, 2016 | 37 | 2016 |
| Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability G Barcia, N Chemaly, M Kuchenbuch, M Eisermann, S Gobin-Limballe, ... Neurology Genetics 5 (6), 2019 | 36 | 2019 |
| Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature C Bar, G Barcia, M Jennesson, G Le Guyader, A Schneider, C Mignot, ... Human mutation 41 (1), 69-80, 2020 | 33 | 2020 |
| Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder A Munnich, C Demily, L Frugère, C Duwime, V Malan, G Barcia, C Vidal, ... Molecular Autism 10, 1-10, 2019 | 33 | 2019 |
