20082019

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2019

A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics

Genov, N., Castellana, S., Scholkmann, F., Capocefalo, D., Truglio, M., Rosati, J., Turco, E. M., Biagini, T., Carbone, A., Mazza, T., Relógio, A. & Mazzoccoli, G., Sep 17 2019, In : International Journal of Molecular Sciences. 20, 18

Research output: Contribution to journalArticle

Open Access

Association of a homozygous GCK missense mutation with mild diabetes

Marucci, A., Biagini, T., Di Paola, R., Menzaghi, C., Fini, G., Castellana, S., Cardinale, G. M., Mazza, T. & Trischitta, V., Jul 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 7, e00728.

Research output: Contribution to journalArticle

Open Access
Open Access

Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete

Castellana, S., Mastroianno, S., Palumbo, P., Palumbo, O., Biagini, T., Leone, M. P., De Luca, G., Potenza, D. R., Amico, C. M., Mazza, T., Russo, A., Di Stolfo, G. & Carella, M., Mar 1 2019, In : Journal of Electrocardiology. 53, p. 95-99 5 p.

Research output: Contribution to journalArticle

2018

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

Castori, M., Ott, C-E., Bisceglia, L., Leone, M. P., Mazza, T., Castellana, S., Tomassi, J., Lanciotti, S., Mundlos, S., Hennekam, R. C., Kornak, U. & Brancati, F., Sep 1 2018, In : American Journal of Medical Genetics, Part A. 176, 9, p. 2028-2033 6 p.

Research output: Contribution to journalArticle

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

Nardella, G., Visci, G., Guarnieri, V., Castellana, S., Biagini, T., Bisceglia, L., Palumbo, O., Trivisano, M., Vaira, C., Scerrati, M., Debrasi, D., D'Angelo, V., Carella, M., Merla, G., Mazza, T., Castori, M., D'Agruma, L. & Fusco, C., Aug 30 2018, In : Human Mutation.

Research output: Contribution to journalArticle

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

Nardella, G., Visci, G., Guarnieri, V., Castellana, S., Biagini, T., Bisceglia, L., Palumbo, O., Trivisano, M., Vaira, C., Scerrati, M., Debrasi, D., D'Angelo, V., Carella, M., Merla, G., Mazza, T., Castori, M., D'Agruma, L. & Fusco, C., Dec 1 2018, In : Human Mutation. 39, 12, p. 1885-1900 16 p.

Research output: Contribution to journalArticle

Molecular dynamics recipes for genome research

Biagini, T., Chillemi, G., Mazzoccoli, G., Grottesi, A., Fusilli, C., Capocefalo, D., Castellana, S., Vescovi, A. L. & Mazza, T., Sep 1 2018, In : Briefings in Bioinformatics. 19, 5, p. 853-862 10 p.

Research output: Contribution to journalArticle

Systematic analysis of mouse genome reveals distinct evolutionary and functional properties among circadian and ultradian genes

Castellana, S., Mazza, T., Capocefalo, D., Genov, N., Biagini, T., Fusilli, C., Scholkmann, F., Relógio, A., Hogenesch, J. B. & Mazzoccoli, G., Aug 23 2018, In : Frontiers in Physiology. 9, AUG, 1178.

Research output: Contribution to journalArticle

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

Venuto, S., Castellana, S., Monti, M., Appolloni, I., Fusilli, C., Fusco, C., Pucci, P., Malatesta, P., Mazza, T., Merla, G. & Micale, L., Jan 1 2018, (Accepted/In press) In : Biochimica et Biophysica Acta - General Subjects.

Research output: Contribution to journalArticle

2017

A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma

Mazzoccoli, G., Castellana, S., Carella, M., Palumbo, O., Tiberio, C., Fusilli, C., Capocefalo, D., Biagini, T., Mazza, T. & Lo Muzio, L., Jan 1 2017, In : Oncotarget. 8, 62, p. 104913-104927 15 p.

Research output: Contribution to journalArticle

High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE

Castellana, S., Fusilli, C., Mazzoccoli, G., Biagini, T., Capocefalo, D., Carella, M., Vescovi, A. L. & Mazza, T., Jun 1 2017, In : PLoS Computational Biology. 13, 6, e1005628.

Research output: Contribution to journalArticle

Molecular dynamics recipes for genome research

Biagini, T., Chillemi, G., Mazzoccoli, G., Grottesi, A., Fusilli, C., Capocefalo, D., Castellana, S., Vescovi, A. L. & Mazza, T., Feb 18 2017, In : Briefings in Bioinformatics.

Research output: Contribution to journalArticle

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing

Leone, M. P., Palumbo, P., Ortore, R., Castellana, S., Palumbo, O., Melchionda, S., Palladino, T., Stallone, R., Mazza, T., Cocchi, R. & Carella, M., Jun 1 2017, In : Molecular and Cellular Probes. 33, p. 24-27 4 p.

Research output: Contribution to journalArticle

Stepwise analysis of MIR9 loci identifies MIR-9-5p to be involved in Oestrogen regulated pathways in breast cancer patients

Barbano, R., Pasculli, B., Rendina, M., Fontana, A., Fusilli, C., Copetti, M., Castellana, S., Valori, V. M., Morritti, M., Graziano, P., Luigi, C., Coco, M., Picardo, F., Mazza, T., Evron, E., Murgo, R., Maiello, E., Esteller, M., Fazio, V. M. & Parrella, P., Mar 27 2017, In : Scientific Reports. 7, 45283.

Research output: Contribution to journalArticle

2016

Expanding the mutation spectrum in 130 probands with ARPKD: Identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

Melchionda, S., Palladino, T., Castellana, S., Giordano, M., Benetti, E., De Bonis, P., Zelante, L. & Bisceglia, L., Sep 1 2016, In : Journal of Human Genetics. 61, 9, p. 811-821 11 p.

Research output: Contribution to journalArticle

Identification of p53-target genes in Danio rerio

Mandriani, B., Castellana, S., Rinaldi, C., Manzoni, M., Venuto, S., Rodriguez-Aznar, E., Galceran, J., Nieto, M. A., Borsani, G., Monti, E., Mazza, T., Merla, G. & Micale, L., Sep 1 2016, In : Scientific Reports. 6, 32474.

Research output: Contribution to journalArticle

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer

Mazza, T., Mazzoccoli, G., Fusilli, C., Capocefalo, D., Panza, A., Biagini, T., Castellana, S., Gentile, A., De Cata, A., Palumbo, O., Stallone, R., Rubino, R., Carella, M. & Piepoli, A., May 19 2016, In : Nucleic Acids Research. 44, 9, p. 4025-4036 12 p.

Research output: Contribution to journalArticle

2015

Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort

Romani, M., Kraoua, I., Micalizzi, A., Klaa, H., Benrhouma, H., Drissi, C., Turki, I., Castellana, S., Mazza, T., Valente, E. M. & Gouider-Khouja, N., Jan 1 2015, In : European Journal of Neurology. 22, 1, p. 178-186 9 p.

Research output: Contribution to journalArticle

MitImpact: An exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants

Castellana, S., Rónai, J. & Mazza, T., Feb 1 2015, In : Human Mutation. 36, 2, p. E2413-E2422

Research output: Contribution to journalArticle

2014

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: Expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carluccio, M. A., Darra, F., Máté, A., Zimmermann, A., Gouider-Khouja, N. & Valente, E. M., May 5 2014, In : Orphanet Journal of Rare Diseases. 9, 1, 72.

Research output: Contribution to journalArticle

2013

Affinity analysis of differentially expressed genes in hepatocytes expressing HCV core genotype 1b or 3a

Mazza, T., Castellana, S., Andriulli, A., Auffray, C., Vinciguerra, M. & Pazienza, V., 2013, In : BioSystems. 114, 1, p. 64-68 5 p.

Research output: Contribution to journalArticle

A solid quality-control analysis of AB solid short-read sequencing data

Castellana, S., Romani, M., Valente, E. M. & Mazza, T., Nov 2013, In : Briefings in Bioinformatics. 14, 6, p. 684-695 12 p., bbs048.

Research output: Contribution to journalArticle

Congruency in the prediction of pathogenic missense mutations: State-of-the-art web-based tools

Castellana, S. & Mazza, T., Jul 2013, In : Briefings in Bioinformatics. 14, 4, p. 448-459 12 p., bbt013.

Research output: Contribution to journalArticle

Multi-sided compression performance assessment of ABI SOLiD WES data

Mazza, T. & Castellana, S., Jun 2013, In : Algorithms. 6, 2, p. 309-318 10 p.

Research output: Contribution to journalArticle

2011
2008

The RHNumtS compilation: Features and bioinformatics approaches to locate and quantify Human NumtS

Lascaro, D., Castellana, S., Gasparre, G., Romeo, G., Saccone, C. & Attimonelli, M., Jun 3 2008, In : BMC Genomics. 9, 267.

Research output: Contribution to journalArticle