受强制性开放获取政策约束的文章 - Francesco Musacchia了解详情
无法在其他位置公开访问的文章：3 篇
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
强制性开放获取政策： Fondazione Telethon, Italy
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p. Arg609His pathogenic variant
C Ciaccio, V Duga, C Pantaleoni, S Esposito, I Moroni, M Pinelli, ...
European Journal of Medical Genetics 64 (1), 104116, 2021
强制性开放获取政策： Fondazione Telethon, Italy
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature
ES Apuril Velgara, M Mariani, A Torella, F Musacchia, ...
American Journal of Medical Genetics Part A 188 (6), 1661-1666, 2022
强制性开放获取政策： Fondazione Telethon, Italy
可在其他位置公开访问的文章：23 篇
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
强制性开放获取政策： Fondazione Telethon, Italy, Government of Italy
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
强制性开放获取政策： Department of Science & Technology, India, UK Medical Research Council …
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
强制性开放获取政策： US Department of Energy
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
强制性开放获取政策： Department of Science & Technology, India, UK Medical Research Council …
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
强制性开放获取政策： US National Science Foundation, German Research Foundation, European …
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
强制性开放获取政策： Government of Italy
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
强制性开放获取政策： US National Institutes of Health
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
强制性开放获取政策： Fondazione Telethon, Italy, Government of Italy
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
强制性开放获取政策： Fondazione Telethon, Italy, European Commission, Government of Italy
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
强制性开放获取政策： Fundação para a Ciência e a Tecnologia, Portugal
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
强制性开放获取政策： Fondazione Telethon, Italy, Government of Italy
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
强制性开放获取政策： Fondazione Telethon, Italy
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
强制性开放获取政策： Agence Nationale de la Recherche, Government of Italy
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
强制性开放获取政策： Fondazione Telethon, Italy
Identification of LINE retrotransposons and long non-coding RNAs expressed in the octopus brain
G Petrosino, G Ponte, M Volpe, I Zarrella, F Ansaloni, C Langella, ...
BMC biology 20 (1), 116, 2022
强制性开放获取政策： Government of Italy
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement
ME Onore, A Torella, F Musacchia, P D’Ambrosio, M Zanobio, ...
Genes 12 (2), 133, 2021
强制性开放获取政策： Fondazione Telethon, Italy, European Commission
De novo assembly of a transcriptome from the eggs and early embryos of Astropecten aranciacus
F Musacchia, F Vasilev, M Borra, E Biffali, R Sanges, L Santella, JT Chun
PLoS One 12 (9), e0184090, 2017
强制性开放获取政策： Government of Italy
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