A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo M Nakamori, GB Panigrahi, S Lanni, T Gall-Duncan, H Hayakawa, ... Nature genetics 52 (2), 146-159, 2020 | 120 | 2020 |
CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy L Barbé, S Lanni, A López-Castel, S Franck, C Spits, K Keymolen, ... The American Journal of Human Genetics 100 (3), 488-505, 2017 | 99 | 2017 |
Molecular genetics of congenital myotonic dystrophy S Lanni, CE Pearson Neurobiology of disease 132, 104533, 2019 | 56 | 2019 |
Role of CTCF protein in regulating FMR1 locus transcription S Lanni, M Goracci, L Borrelli, G Mancano, P Chiurazzi, U Moscato, ... PLoS genetics 9 (7), e1003601, 2013 | 44 | 2013 |
FAN1, a DNA repair nuclease, as a modifier of repeat expansion disorders AL Deshmukh, A Porro, M Mohiuddin, S Lanni, GB Panigrahi, MC Caron, ... Journal of Huntington's disease 10 (1), 95-122, 2021 | 36 | 2021 |
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells E Tabolacci, G Mancano, S Lanni, F Palumbo, M Goracci, F Ferrè, ... Epigenetics & chromatin 9 (1), 1-15, 2016 | 32 | 2016 |
Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue AY Shuen, S Lanni, GB Panigrahi, M Edwards, L Yu, BB Campbell, ... Journal of Clinical Oncology, 461-470, 2019 | 28 | 2019 |
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene V Nobile, F Palumbo, S Lanni, V Ghisio, A Vitali, M Castagnola, ... Human genetics 139 (2), 227-245, 2020 | 19 | 2020 |
FAN1 exo-not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability AL Deshmukh, MC Caron, M Mohiuddin, S Lanni, GB Panigrahi, M Khan, ... Cell Reports 37 (10), 110078, 2021 | 15 | 2021 |
Defining the role of the CGGBP1 protein in FMR1 gene expression M Goracci, S Lanni, G Mancano, F Palumbo, P Chiurazzi, G Neri, ... European Journal of Human Genetics 24 (5), 697, 2016 | 8 | 2016 |
FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansions AL Deshmukh, MC Caron, M Mohiuddin, S Lanni, GB Panigrahi, M Khan, ... bioRxiv, 2021 | | 2021 |
Riattivazione del gene FMR1 responsabile della sindrome X fragile: verso una terapia farmacologica E Tabolacci, S Lanni, F Pirozzi, G Mancano, M Goracci, M Moscarda, ... | | |