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Antonio Vitobello
Antonio Vitobello
MCU-PH Human Genetics University of Burgundy - CHU Dijon
Bestätigte E-Mail-Adresse bei u-bourgogne.fr
Titel
Zitiert von
Zitiert von
Jahr
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
2052020
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
1632018
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
1322017
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
1282013
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
1002022
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
942011
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
892019
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
882019
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
782019
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
732014
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
682021
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
612021
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
612018
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
602021
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
552019
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
502019
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
442020
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
412019
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
412019
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
392020
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