YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ... The American Journal of Human Genetics 100 (6), 907-925, 2017 | 147 | 2017 |
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication M Zanella, A Vitriolo, A Andirko, PT Martins, S Sturm, T O’Rourke, ... Science advances 5 (12), eaaw7908, 2019 | 111 | 2019 |
DNA methylation signature for EZH2 functionally classifies sequence variants in three PRC2 complex genes S Choufani, WT Gibson, AL Turinsky, BHY Chung, T Wang, K Garg, ... The American Journal of Human Genetics 106 (5), 596-610, 2020 | 73 | 2020 |
RNAontheBENCH: computational and empirical resources for benchmarking RNAseq quantification and differential expression methods PL Germain, A Vitriolo, A Adamo, P Laise, V Das, G Testa Nucleic acids research 44 (11), 5054-5067, 2016 | 59 | 2016 |
An acidic loop and cognate phosphorylation sites define a molecular switch that modulates ubiquitin charging activity in Cdc34-like enzymes E Papaleo, V Ranzani, F Tripodi, A Vitriolo, C Cirulli, P Fantucci, ... PLoS computational biology 7 (5), e1002056, 2011 | 39 | 2011 |
The guanine nucleotide exchange factor Arhgef7/βPix promotes axon formation upstream of TC10 A López Tobón, M Suresh, J Jin, A Vitriolo, T Pietralla, K Tedford, ... Scientific reports 8 (1), 8811, 2018 | 35 | 2018 |
C-Terminal acidic domain of ubiquitin-conjugating enzymes: a multi-functional conserved intrinsically disordered domain in family 3 of E2 enzymes A Arrigoni, B Grillo, A Vitriolo, L De Gioia, E Papaleo Journal of Structural Biology 178 (3), 245-259, 2012 | 23 | 2012 |
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism CP D’Incal, KE Van Rossem, K De Man, A Konings, A Van Dijck, L Rizzuti, ... Clinical Epigenetics 15 (1), 45, 2023 | 17 | 2023 |
Theoretical insights into [NiFe]-hydrogenases oxidation resulting in a slowly reactivating inactive state R Breglia, MA Ruiz-Rodriguez, A Vitriolo, RF Gonzŕlez-Laredo, ... JBIC Journal of Biological Inorganic Chemistry 22, 137-151, 2017 | 16 | 2017 |
SPILLO‐PBSS: Detecting hidden binding sites within protein 3D‐structures through a flexible structure‐based approach A Di Domizio, A Vitriolo, G Vistoli, A Pedretti Journal of Computational Chemistry 35 (27), 2005-2017, 2014 | 13 | 2014 |
From enhanceropathies to the epigenetic manifold underlying human cognition A Vitriolo, M Gabriele, G Testa Human Molecular Genetics 28 (R2), R226-R234, 2019 | 11 | 2019 |
Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens A Andirkó, J Moriano, A Vitriolo, M Kuhlwilm, G Testa, C Boeckx Scientific Reports 12 (1), 9937, 2022 | 9 | 2022 |
KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation M Gabriele, A Vitriolo, S Cuvertino, MF Pereira, C Franconi, PL Germain, ... bioRxiv, 2021.04. 22.440945, 2021 | 5 | 2021 |
Curation of causal interactions mediated by genes associated with autism accelerates the understanding of gene-phenotype relationships underlying neurodevelopmental disorders M Iannuccelli, A Vitriolo, L Licata, P Lo Surdo, S Contino, C Cheroni, ... Molecular Psychiatry 29 (1), 186-196, 2024 | 4 | 2024 |
7q11. 23 Syndromes Reveal BAZ1B as a Master Regulator of the Modern Human Face and Validate the Self-Domestication Hypothesis M Zanella, A Vitriolo, A Andirko, PT Martins, S Sturm, T O’Rourke, ... bioRxiv, 570036, 2019 | 4 | 2019 |
Multiscale modeling uncovers 7q11. 23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability M Mihailovich, PL Germain, R Shyti, D Pozzi, R Noberini, Y Liu, D Aprile, ... The Journal of clinical investigation 134 (14), 2024 | 3 | 2024 |
7q11. 23 CNV alters protein synthesis and REST-mediated neuronal intrinsic excitability M Mihailovich, PL Germain, R Shyti, D Pozzi, R Noberini, Y Liu, D Aprile, ... bioRxiv, 2022.10. 10.511483, 2022 | 3 | 2022 |
Self-domestication: from analogy to homology via genomics C Boeckx, A Vitriolo, G Testa Psyarxiv, 2022 | 3 | 2022 |
Fine-grained temporal mapping of derived high-frequency variants supports the mosaic nature of the evolution of Homo sapiens A Andirkó, J Moriano, A Vitriolo, M Kuhlwilm, G Testa, C Boeckx BioRxiv, 2021.01. 22.427608, 2021 | 3 | 2021 |
A multi-layered integrative analysis reveals a cholesterol metabolic program in outer radial glia with implications for human brain evolution J Moriano, O Leonardi, A Vitriolo, G Testa, C Boeckx Development 151 (16), 2024 | 2 | 2024 |