| ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ... European Journal of Human Genetics 28 (11), 1602-1614, 2020 | 281 | 2020 |
| Annocript: a flexible pipeline for the annotation of transcriptomes also able to identify putative long noncoding RNAs RS F Musacchia, S Basu, G Petrosino, M Salvemini Bioinformatics 2015, 2015 | 116 | 2015 |
| 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 | 80 | 2021 |
| Transcriptome sequencing of three Pseudo-nitzschia species reveals comparable gene sets and the presence of Nitric Oxide Synthase genes in diatoms V Di Dato, F Musacchia, G Petrosino, S Patil, M Montresor, R Sanges, ... Scientific reports 5 (1), 12329, 2015 | 70 | 2015 |
| Solving patients with rare diseases through programmatic reanalysis of genome-phenome data L Matalonga, C Hernández-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics 29 (9), 1337-1347, 2021 | 55 | 2021 |
| A draft genome sequence of the elusive giant squid, Architeuthis dux RR Da Fonseca, A Couto, AM Machado, B Brejova, CB Albertin, F Silva, ... GigaScience 9 (1), giz152, 2020 | 46 | 2020 |
| Marine diatoms change their gene expression profile when exposed to microscale turbulence under nutrient replete conditions A Amato, G Dell’Aquila, F Musacchia, R Annunziata, A Ugarte, N Maillet, ... Scientific reports 7 (1), 3826, 2017 | 40 | 2017 |
| Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review E Agolini, ML Dentici, E Bellacchio, V Alesi, FC Radio, A Torella, ... Clinical Genetics 93 (3), 675-681, 2018 | 36 | 2018 |
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes M Scala, M Nishikawa, H Ito, H Tabata, T Khan, A Accogli, L Davids, ... Brain 145 (9), 3308-3327, 2022 | 35 | 2022 |
| Genomewide transcriptional reprogramming in the seagrass Cymodocea nodosa under experimental ocean acidification M Ruocco, F Musacchia, I Olivé, MM Costa, I Barrote, R Santos, R Sanges, ... Molecular ecology 26 (16), 4241-4259, 2017 | 30 | 2017 |
| Clinical and genetic analysis of a European cohort with pericentral retinitis pigmentosa M Karali, F Testa, R Brunetti-Pierri, V Di Iorio, M Pizzo, P Melillo, ... International journal of molecular sciences 21 (1), 86, 2019 | 28 | 2019 |
| VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database F Musacchia, A Ciolfi, M Mutarelli, A Bruselles, R Castello, M Pinelli, ... BMC bioinformatics 19, 1-14, 2018 | 28 | 2018 |
| De novo assembly and sex-specific transcriptome profiling in the sand fly Phlebotomus perniciosus (Diptera, Phlebotominae), a major Old World vector of Leishmania infantum V Petrella, S Aceto, F Musacchia, V Colonna, M Robinson, V Benes, ... BMC genomics 16, 1-15, 2015 | 28 | 2015 |
| Therapeutic homology-independent targeted integration in retina and liver P Tornabene, R Ferla, M Llado-Santaeularia, M Centrulo, M Dell’Anno, ... Nature communications 13 (1), 1963, 2022 | 27 | 2022 |
| Spectrum of disease severity in patients with X-linked retinitis pigmentosa due to RPGR mutations V Di Iorio, M Karali, P Melillo, F Testa, R Brunetti-Pierri, F Musacchia, ... Investigative Ophthalmology & Visual Science 61 (14), 36-36, 2020 | 23 | 2020 |
| GEN-COVID Multicenter Study, Renieri A, Pinto AM. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ... Eur J Hum Genet 28 (11), 1602-1614, 2020 | 18 | 2020 |
| Intraspecific Diversity in the Cold Stress Response of Transposable Elements in the Diatom Leptocylindrus aporus A Pargana, F Musacchia, R Sanges, MT Russo, MI Ferrante, C Bowler, ... Genes 11 (1), 9, 2019 | 15 | 2019 |
| Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome A Accogli, M Scala, A Calcagno, R Castello, A Torella, F Musacchia, ... American Journal of Medical Genetics Part A 176 (12), 2835-2840, 2018 | 14 | 2018 |
| Consolidating the role of TDP2 mutations in recessive spinocerebellar ataxia associated with pediatric onset drug resistant epilepsy and intellectual disability (SCAR23) C Ciaccio, R Castello, S Esposito, M Pinelli, V Nigro, G Casari, ... The Cerebellum 18, 972-975, 2019 | 12 | 2019 |
| Sinus pericranii, skull defects, and structural brain anomalies in TRAF7‐related disorder A Accogli, M Scala, M Pavanello, M Severino, C Gandolfo, P De Marco, ... Birth Defects Research 112 (14), 1085-1092, 2020 | 11 | 2020 |
