| 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 | 229 | 2020 |
| Mutations in GABRB3 From febrile seizures to epileptic encephalopathies RS Møller, TV Wuttke, I Helbig, C Marini, KM Johannesen, EH Brilstra, ... Neurology 88 (5), 483-492, 2017 | 119 | 2017 |
| Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders C Schluth-Bolard, F Diguet, N Chatron, PA Rollat-Farnier, C Bardel, ... Journal of Medical Genetics 56 (8), 526-535, 2019 | 70 | 2019 |
| A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis HE Olson, N Jean-Marçais, E Yang, D Heron, K Tatton-Brown, ... The American Journal of Human Genetics 102 (5), 995-1007, 2018 | 70 | 2018 |
| Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy M Assoum, C Philippe, B Isidor, L Perrin, P Makrythanasis, N Sondheimer, ... The American Journal of Human Genetics 99 (6), 1368-1376, 2016 | 64 | 2016 |
| Clinical spectrum of STX1B-related epileptic disorders S Wolking, P May, D Mei, RS Møller, S Balestrini, KL Helbig, CD Altuzarra, ... Neurology 92 (11), e1238-e1249, 2019 | 61 | 2019 |
| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns H Stamberger, TB Hammer, E Gardella, DRM Vlaskamp, B Bertelsen, ... Genetics in Medicine 23 (2), 363-373, 2021 | 46 | 2021 |
| MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, ... Neurogenetics 19, 93-103, 2018 | 36 | 2018 |
| Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy M Rossi, N Chatron, A Labalme, D Ville, M Carneiro, P Edery, ... European Journal of Human Genetics 25 (3), 376-380, 2017 | 36 | 2017 |
| Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion N Chatron, V Haddad, J Andrieux, J Désir, O Boute, A Dieux, C Baumann, ... American Journal of Medical Genetics Part A 167 (5), 1008-1017, 2015 | 33 | 2015 |
| Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management. N Chatron, M Till, C Abel, C Bardel, F Ramond, D Sanlaville, ... Ultrasound in obstetrics & gynecology: the official journal of the …, 2019 | 32 | 2019 |
| Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases PC Marcogliese, SL Deal, J Andrews, JM Harnish, VH Bhavana, ... Cell reports 38 (11), 2022 | 29 | 2022 |
| Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 L Castilla-Vallmanya, KK Selmer, C Dimartino, R Rabionet, ... Genetics in Medicine 22 (7), 1215-1226, 2020 | 27 | 2020 |
| Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy N Chatron, F Becker, H Morsy, M Schmidts, K Hardies, B Tuysuz, ... Brain 143 (5), 1447-1461, 2020 | 27 | 2020 |
| Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy N Voisin, RE Schnur, S Douzgou, SM Hiatt, CF Rustad, NJ Brown, DL Earl, ... The American Journal of Human Genetics 108 (5), 857-873, 2021 | 26 | 2021 |
| A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants N Chatron, S Cabet, E Alix, A Buenerd, P Cox, L Guibaud, A Labalme, ... Brain 142 (11), 3367-3374, 2019 | 26 | 2019 |
| Additive effect of variably penetrant 22q11. 2 duplication and pathogenic mutations in autism spectrum disorder: to which extent does the tree hide the forest? C Demily, G Lesca, A Poisson, M Till, G Barcia, N Chatron, D Sanlaville, ... Journal of autism and developmental disorders 48, 2886-2889, 2018 | 26 | 2018 |
| The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant N Chatron, RS Møller, NL Champaigne, AL Schneider, A Kuechler, ... Annals of neurology 83 (5), 926-934, 2018 | 25 | 2018 |
| Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA S Dimassi, T Simonet, A Labalme, N Boutry-Kryza, A Campan-Fournier, ... Applied & Translational Genomics 7, 19-25, 2015 | 24 | 2015 |
| Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants S Kayumi, LA Pérez-Jurado, M Palomares, S Rangu, SE Sheppard, ... Genetics in Medicine 24 (11), 2351-2366, 2022 | 22 | 2022 |
