Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies FR Grati, D Molina Gomes, JCPB Ferreira, C Dupont, V Alesi, L Gouas, ... Prenatal diagnosis 35 (8), 801-809, 2015 | 319 | 2015 |
Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy A Conti, F Fabbrini, P D'Agostino, R Negri, D Greco, R Genesio, ... BMC genomics 8, 1-15, 2007 | 167 | 2007 |
Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets A Izzo, N Mollo, M Nitti, S Paladino, G Calì, R Genesio, F Bonfiglio, ... Molecular Medicine 24, 1-8, 2018 | 112 | 2018 |
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells A Izzo, M Nitti, N Mollo, S Paladino, C Procaccini, D Faicchia, G Calì, ... Human molecular genetics 26 (6), 1056-1069, 2017 | 92 | 2017 |
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2 E Mozzillo, M Delvecchio, M Carella, E Grandone, P Palumbo, A Salina, ... BMC Medical Genetics 15, 1-7, 2014 | 82 | 2014 |
The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster F Cerrato, A Sparago, ID Matteo, X Zou, W Dean, H Sasaki, P Smith, ... Human molecular genetics 14 (4), 503-511, 2005 | 79 | 2005 |
Prenatal BACs‐on‐BeadsTM: the prospective experience of five prenatal diagnosis laboratories F Vialard, G Simoni, DM Gomes, A Abourra, SD Toffol, F Bru, ... Prenatal Diagnosis 32 (4), 329-335, 2012 | 60 | 2012 |
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants G Cappuccio, F Vitiello, A Casertano, P Fontana, R Genesio, D Bruzzese, ... Italian journal of pediatrics 42, 1-11, 2016 | 36 | 2016 |
Lithium chloride induces mesenchymal‑to‑epithelial reverting transition in primary colon cancer cell cultures V Costabile, F Duraturo, P Delrio, D Rega, U Pace, R Liccardo, GB Rossi, ... International journal of oncology 46 (5), 1913-1923, 2015 | 35 | 2015 |
Immunoglobulin heavy‐chain fluorescence in situ hybridization‐chromogenic in situ hybridization DNA probe split signal in the clonality assessment of lymphoproliferative … P Zeppa, LV Sosa Fernandez, I Cozzolino, V Ronga, R Genesio, ... Cancer cytopathology 120 (6), 390-400, 2012 | 35 | 2012 |
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice AC Houweling, GM Beaman, AV Postma, TB Gainous, KD Lichtenbelt, ... The Journal of clinical investigation 129 (12), 5374-5380, 2019 | 31 | 2019 |
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region D Melis, R Genesio, P Boemio, E Del Giudice, G Cappuccio, A Mormile, ... American Journal of Medical Genetics Part A 158 (4), 832-835, 2012 | 30 | 2012 |
Overexpression of chromosome 21 miRNAs may affect mitochondrial function in the hearts of Down syndrome fetuses A Izzo, R Manco, T Cristofaro, F Bonfiglio, R Cicatiello, N Mollo, ... International Journal of Genomics 2017, 2017 | 29 | 2017 |
A case of 14q11. 2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome G Terrone, G Cappuccio, R Genesio, A Esposito, V Fiorentino, M Riccitelli, ... American Journal of Medical Genetics Part A 164 (1), 190-193, 2014 | 29 | 2014 |
Genetic and molecular analysis of a new unbalanced X; 18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region F Fusco, M Paciolla, E Chen, X Li, R Genesio, A Conti, J Jones, L Poeta, ... Human reproduction 26 (11), 3186-3196, 2011 | 29 | 2011 |
Partial cerebellar hypoplasia in a patient with Prader‐Willi syndrome L Titomanlio, D De Brasi, A Romano, R Genesio, AA Diano, ... Acta Paediatrica 95 (7), 861-863, 2006 | 27 | 2006 |
Targeting mitochondrial network architecture in Down syndrome and aging N Mollo, R Cicatiello, M Aurilia, R Scognamiglio, R Genesio, ... International Journal of Molecular Sciences 21 (9), 3134, 2020 | 26 | 2020 |
Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene P Fontana, R Genesio, A Casertano, G Cappuccio, A Mormile, L Nitsch, ... Gene 538 (1), 69-73, 2014 | 24 | 2014 |
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype G Rita, DB Daniele, C Anna, B Annamaria, DM Pasqua, DC Pasquale, ... American Journal of Medical Genetics Part A 128 (4), 422-428, 2004 | 23 | 2004 |
Chromosomal microarray analysis versus karyotyping in fetuses with increased nuchal translucency R Cicatiello, P Pignataro, A Izzo, N Mollo, L Pezone, GM Maruotti, L Sarno, ... Medical Sciences 7 (3), 40, 2019 | 20 | 2019 |