| 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 | 215 | 2020 |
| Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis S Nambot, J Thevenon, P Kuentz, Y Duffourd, E Tisserant, AL Bruel, ... Genetics in Medicine 20 (6), 645-654, 2018 | 170 | 2018 |
| Gene bivalency at Polycomb domains regulates cranial neural crest positional identity M Minoux, S Holwerda, A Vitobello, T Kitazawa, H Kohler, MB Stadler, ... Science 355 (6332), eaal2913, 2017 | 134 | 2017 |
| Ezh2 orchestrates topographic migration and connectivity of mouse precerebellar neurons T Di Meglio, CF Kratochwil, N Vilain, A Loche, A Vitobello, K Yonehara, ... Science 339 (6116), 204-207, 2013 | 130 | 2013 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 115 | 2022 |
| Hox and Pbx factors control retinoic acid synthesis during hindbrain segmentation A Vitobello, E Ferretti, X Lampe, N Vilain, S Ducret, M Ori, JF Spetz, ... Developmental cell 20 (4), 469-482, 2011 | 94 | 2011 |
| Autism and developmental disability caused by KCNQ3 gain‐of‐function variants TT Sands, F Miceli, G Lesca, AE Beck, LG Sadleir, DK Arrington, ... Annals of neurology 86 (2), 181-192, 2019 | 90 | 2019 |
| Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment V Salpietro, NT Malintan, I Llano-Rivas, CG Spaeth, S Efthymiou, ... The American Journal of Human Genetics 104 (4), 721-730, 2019 | 89 | 2019 |
| De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological … L Liang, X Li, S Moutton, SA Schrier Vergano, B Cogné, A Saint-Martin, ... Human molecular genetics 28 (17), 2937-2951, 2019 | 81 | 2019 |
| Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1325-1331, 2021 | 77 | 2021 |
| Phenobarbital induces cell cycle transcriptional responses in mouse liver humanized for constitutive androstane and pregnane x receptors R Luisier, H Lempiäinen, N Scherbichler, A Braeuning, M Geissler, ... Toxicological Sciences 139 (2), 501-511, 2014 | 73 | 2014 |
| 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 | 65 | 2018 |
| Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders MA Gillentine, T Wang, K Hoekzema, J Rosenfeld, P Liu, H Guo, CN Kim, ... Genome medicine 13, 1-26, 2021 | 64 | 2021 |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 64 | 2021 |
| Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing AL Bruel, S Nambot, V Quéré, A Vitobello, J Thevenon, M Assoum, ... European Journal of Human Genetics 27 (10), 1519-1531, 2019 | 56 | 2019 |
| Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature J Delanne, S Nambot, A Chassagne, O Putois, A Pelissier, C Peyron, ... European Journal of Medical Genetics 62 (6), 103529, 2019 | 52 | 2019 |
| De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct … G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ... Genetics in Medicine 22 (11), 1838-1850, 2020 | 43 | 2020 |
| De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy F Tran Mau-Them, L Guibaud, L Duplomb, B Keren, K Lindstrom, I Marey, ... Genetics in Medicine 21 (4), 1008-1014, 2019 | 43 | 2019 |
| De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ... The American Journal of Human Genetics 105 (2), 403-412, 2019 | 42 | 2019 |
| De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ... The American Journal of Human Genetics 107 (1), 164-172, 2020 | 40 | 2020 |
Faivre Laurenceprofesseur de génétique, Université de Bourgogne在 chu-dijon.fr 的电子邮件经过验证
