20072020

Research output per year

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Research Output

2020

Clinical Significance of Circulating miR-1273g-3p and miR-122-5p in Pancreatic Cancer

Mazza, T., Gioffreda, D., Fontana, A., Biagini, T., Carella, M., Palumbo, O., Maiello, E., Bazzocchi, F., Andriulli, A. & Tavano, F., Feb 4 2020, In : Frontiers in Oncology. 10, 44.

Research output: Contribution to journalArticle

Open Access

Compound phenotype due to recessive variants in larp7 and otog genes disclosed by an integrated approach of snp-array and whole exome sequencing

Palumbo, P., Palumbo, O., Leone, M. P., Di Muro, E., Castellana, S., Bisceglia, L., Mazza, T., Carella, M. & Castori, M., Apr 2020, In : Genes. 11, 4, 379.

Research output: Contribution to journalArticle

Open Access
2019

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia

Daniele, G., L’Abbate, A., Turchiano, A., Palumbo, O., Carella, M., Lo Cunsolo, C., Iuzzolino, P., Lonoce, A., Hernández-Sánchez, M., Minoia, C., Leone, P., Hernandez-Rivas, J. M. & Storlazzi, C. T., Jan 1 2019, In : Clinical and Experimental Medicine.

Research output: Contribution to journalArticle

Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes

Tolomeo, D., L'Abbate, A., Lonoce, A., D'Addabbo, P., Miccoli, M. F., Lo Cunsolo, C., Iuzzolino, P., Palumbo, O., Carella, M., Racanelli, V., Mazza, T., Ottaviani, E., Martinelli, G., Macchia, G. & Storlazzi, C. T., 2019, In : Cancer genetics. 237, p. 63-68 6 p.

Research output: Contribution to journalArticle

Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes

Tolomeo, D., L'Abbate, A., Lonoce, A., D'Addabbo, P., Miccoli, M. F., Lo Cunsolo, C., Iuzzolino, P., Palumbo, O., Carella, M., Racanelli, V., Mazza, T., Ottaviani, E., Martinelli, G., Macchia, G. & Storlazzi, C. T., Sep 1 2019, In : Cancer genetics. 237, p. 63-68 6 p.

Research output: Contribution to journalArticle

Exploring differential transcriptome between jejunal and cecal tissue of broiler chickens

Bertocchi, M., Sirri, F., Palumbo, O., Luise, D., Maiorano, G., Bosi, P. & Trevisi, P., May 1 2019, In : Animals. 9, 5, 221.

Research output: Contribution to journalArticle

Open Access

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

Maggiolini, F. A. M., Cantsilieris, S., D'Addabbo, P., Manganelli, M., Coe, B. P., Dumont, B. L., Sanders, A. D., Pang, A. W. C., Vollger, M. R., Palumbo, O., Palumbo, P., Accadia, M., Carella, M., Eichler, E. E. & Antonacci, F., Mar 1 2019, In : PLoS Genetics. 15, 3, p. e1008075

Research output: Contribution to journalArticle

Open Access

In ovo injection of a galacto-oligosaccharide prebiotic in broiler chickens submitted to heat-stress: Impact on transcriptomic profile and plasma immune parameters

Bertocchi, M., Zampiga, M., Luise, D., Vitali, M., Sirri, F., Slawinska, A., Tavaniello, S., Palumbo, O., Archetti, I., Maiorano, G., Bosi, P. & Trevisi, P., Dec 2019, In : Animals. 9, 12, 1067.

Research output: Contribution to journalArticle

Open Access

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription

Di Stolfo, G., Accadia, M., Mastroianno, S., Leone, M. P., Palumbo, O., Palumbo, P., Potenza, D., Maccarone, P., Sacco, M., Russo, A. & Carella, M., Sep 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 9, e855.

Research output: Contribution to journalArticle

Open Access

microRNA-mRNA network model in patients with achalasia

Palmieri, O., Mazza, T., Bassotti, G., Merla, A., Tolone, S., Biagini, T., Cuttitta, A., Bossa, F., Martino, G., Latiano, T., Corritore, G., Gioffreda, D., Palumbo, O., Carella, M., Panza, A., Andriulli, A. & Latiano, A., Jan 1 2019, (Accepted/In press) In : Neurogastroenterology and Motility. e13764.

Research output: Contribution to journalArticle

Open Access

Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development

Sarogni, P., Palumbo, O., Servadio, A., Astigiano, S., D'Alessio, B., Gatti, V., Cukrov, D., Baldari, S., Pallotta, M. M., Aretini, P., Dell'Orletta, F., Soddu, S., Carella, M., Toietta, G., Barbieri, O., Fontanini, G. & Musio, A., 2019, In : Journal of Experimental and Clinical Cancer Research. 38, 1

Research output: Contribution to journalArticle

Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development

Sarogni, P., Palumbo, O., Servadio, A., Astigiano, S., D'Alessio, B., Gatti, V., Cukrov, D., Baldari, S., Pallotta, M. M., Aretini, P., Dell'Orletta, F., Soddu, S., Carella, M., Toietta, G., Barbieri, O., Fontanini, G. & Musio, A., Mar 1 2019, In : Journal of Experimental and Clinical Cancer Research. 38, 1, 108.

Research output: Contribution to journalArticle

Open Access

Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies

Visioli, A., Giani, F., Trivieri, N., Pracella, R., Miccinilli, E., Cariglia, M. G., Palumbo, O., Arleo, A., Dezi, F., Copetti, M., Cajola, L., Restelli, S., Papa, V., Sciuto, A., Latiano, T. P., Carella, M., Amadori, D., Gallerani, G., Ricci, R., Alfieri, S. & 3 others, Pesole, G., Vescovi, A. L. & Binda, E., Jan 1 2019, In : EBioMedicine.

Research output: Contribution to journalArticle

Open Access

Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies

Visioli, A., Giani, F., Trivieri, N., Pracella, R., Miccinilli, E., Cariglia, M. G., Palumbo, O., Arleo, A., Dezi, F., Copetti, M., Cajola, L., Restelli, S., Papa, V., Sciuto, A., Latiano, T. P., Carella, M., Amadori, D., Gallerani, G., Ricci, R., Alfieri, S. & 3 others, Pesole, G., Vescovi, A. L. & Binda, E., 2019, In : EBioMedicine. 44, p. 346-360 15 p.

Research output: Contribution to journalArticle

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

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Sparago, A., Verma, A., Patricelli, M. G., Pignata, L., Russo, S., Calzari, L., De Francesco, N., Del Prete, R., Palumbo, O., Carella, M., MacKay, D. J. G., Rezwan, F. I., Angelini, C., Cerrato, F., Cubellis, M. V. & Riccio, A., Dec 11 2019, In : Clinical Epigenetics. 11, 1, 190.

Research output: Contribution to journalArticle

Open Access

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Sparago, A., Verma, A., Patricelli, M. G., Pignata, L., Russo, S., Calzari, L., De Francesco, N., Del Prete, R., Palumbo, O., Carella, M., MacKay, D. J. G., Rezwan, F. I., Angelini, C., Cerrato, F., Cubellis, M. V. & Riccio, A., 2019, In : Clinical Epigenetics. 11, 1

Research output: Contribution to journalArticle

2018

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

Correction to: MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences (Leukemia, (2018), 32, 10, (2152-2166), 10.1038/s41375-018-0033-0)

L’Abbate, A., Tolomeo, D., Cifola, I., Severgnini, M., Turchiano, A., Augello, B., Squeo, G., D’Addabbo, P., Traversa, D., Daniele, G., Lonoce, A., Pafundi, M., Carella, M., Palumbo, O., Dolnik, A., Muehlematter, D., Schoumans, J., Van Roy, N., De Bellis, G., Martinelli, G. & 4 others, Merla, G., Bullinger, L., Haferlach, C. & Storlazzi, C. T., Oct 1 2018, In : Leukemia. 32, 10, 1 p.

Research output: Contribution to journalComment/debate

MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences

L´Abbate, A., Tolomeo, D., Cifola, I., Severgnini, M., Turchiano, A., Augello, B., Squeo, G., D´Addabbo, P., Traversa, D., Daniele, G., Lonoce, A., Pafundi, M., Carella, M., Palumbo, O., Dolnik, A., Muehlematter, D., Schoumans, J., van Roy, N., de Bellis, G., Martinelli, G. & 4 others, Merla, G., Bullinger, L., Haferlach, C. & Storlazzi, C. T., Feb 22 2018, (Accepted/In press) In : Leukemia. p. 1-15 15 p.

Research output: Contribution to journalArticle

MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences

L′Abbate, A., Tolomeo, D., Cifola, I., Severgnini, M., Turchiano, A., Augello, B., Squeo, G., D′Addabbo, P., Traversa, D., Daniele, G., Lonoce, A., Pafundi, M., Carella, M., Palumbo, O., Dolnik, A., Muehlematter, D., Schoumans, J., Van Roy, N., De Bellis, G., Martinelli, G. & 4 others, Merla, G., Bullinger, L., Haferlach, C. & Storlazzi, C. T., 2018, In : Leukemia. 32, 10, p. 2152-2166 15 p.

Research output: Contribution to journalArticle

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

Garelli, E., Quarello, P., Giorgio, E., Carando, A., Menegatti, E., Mancini, C., Di Gregorio, E., Crescenzio, N., Palumbo, O., Carella, M., Dimartino, P., Pippucci, T., Dianzani, I., Ramenghi, U. & Brusco, A., Jan 1 2018, (Accepted/In press) In : British Journal of Haematology.

Research output: Contribution to journalArticle

The hidden genomic and transcriptomic plasticity of giant marker chromosomes in cancer

Macchia, G., Severgnini, M., Purgato, S., Tolomeo, D., Casciaro, H., Cifola, I., L’abbate, A., Loverro, A., Palumbo, O., Carella, M., Bianchini, L., Perini, G., De Bellis, G., Mertens, F., Rocchi, M. & Storlazzi, C. T., Mar 1 2018, In : Genetics. 208, 3, p. 951-961 11 p.

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

Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome

Mussa, A., Molinatto, C., Cerrato, F., Palumbo, O., Carella, M., Baldassarre, G., Carli, D., Peris, C., Riccio, A. & Ferrero, G. B., Jul 1 2017, In : Pediatrics. 140, 1, e20164311.

Research output: Contribution to journalArticle

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

Fischetto, R., Palumbo, O., Ortolani, F., Palumbo, P., Leone, M. P., Causio, F. A., Pesce, S., Digilio, M. C., Carella, M. & Papadia, F., Jul 1 2017, In : American Journal of Medical Genetics, Part A. 173, 7, p. 1922-1930 9 p.

Research output: Contribution to journalArticle

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

Fischetto, R., Palumbo, O., Ortolani, F., Palumbo, P., Leone, M. P., Causio, F. A., Pesce, S., Digilio, M. C., Carella, M. & Papadia, F., Apr 13 2017, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients

Nuzzo, T., Sacchi, S., Errico, F., Keller, S., Palumbo, O., Florio, E., Punzo, D., Napolitano, F., Copetti, M., Carella, M., Chiariotti, L., Bertolino, A., Pollegioni, L. & Usiello, A., 2017, In : npj Schizophrenia. 3, p. 16

Research output: Contribution to journalArticle

Design and validation of a New MLPA-Based assay for the detection of RS1 gene deletions and application in a large family with X-linked juvenile retinoschisis

Nicoletti, A., Ziccardi, L., Maltese, P. E., Benedetti, S., Palumbo, O., Rendina, M., D'Agruma, L., Falsini, B., Wang, X. & Bertelli, M., Feb 1 2017, In : Genetic Testing and Molecular Biomarkers. 21, 2, p. 116-121 6 p.

Research output: Contribution to journalArticle

Developmental coordination disorder in a patient with mental disability and a mild phenotype carrying terminal 6q26-qter deletion

De Cinque, M., Palumbo, O., Mazzucco, E., Simone, A., Palumbo, P., Ciavatta, R., Maria, G., Ferese, R., Gambardella, S., Angiolillo, A., Carella, M. & Garofalo, S., Dec 6 2017, In : Frontiers in Genetics. 8, DEC, 206.

Research output: Contribution to journalArticle

Epigenetically induced ectopic expression of uncx impairs the proliferation and differentiation of myeloid cells

Daniele, G., Simonetti, G., Fusilli, C., Iacobucci, I., Lonoce, A., Palazzo, A., Lomiento, M., Mammoli, F., Marsano, R. M., Marasco, E., Mantovani, V., Quentmeier, H., Drexler, H. G., Ding, J., Palumbo, O., Carella, M., Nadarajah, N., Perricone, M., Ottaviani, E., Baldazzi, C. & 6 others, Testoni, N., Papayannidis, C., Ferrari, S., Mazza, T., Martinelli, G. & Storlazzi, C. T., Jun 26 2017, In : Haematologica. 102, 7, p. 1204-1214 11 p.

Research output: Contribution to journalArticle

Erratum: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family [BMC Med Genet. 2017;18:83] DOI 10.1186/s12881-017-0445-0

Guarnieri, V., Seaberg, R. M., Kelly, C., Jean Davidson, M., Raphael, S., Shuen, A. Y., Baorda, F., Palumbo, O., Scillitani, A., Hendy, G. N. & Cole, D. E. C., Sep 13 2017, In : BMC Medical Genetics. 18, 1, 99.

Research output: Contribution to journalComment/debate

Functional implications of microRNAs in crohn’s disease revealed by integrating microRNA and messenger RNA expression profiling

Palmieri, O., Creanza, T. M., Bossa, F., Latiano, T., Corritore, G., Palumbo, O., Martino, G., Biscaglia, G., Scimeca, D., Carella, M., Ancona, N., Andriulli, A. & Latiano, A., Jul 20 2017, In : International Journal of Molecular Sciences. 18, 7, 1580.

Research output: Contribution to journalArticle

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

Guarnieri, V., Seaberg, R. M., Kelly, C., Jean Davidson, M., Raphael, S., Shuen, A. Y., Baorda, F., Palumbo, O., Scillitani, A., Hendy, G. N. & Cole, D. E. C., Aug 3 2017, In : BMC Medical Genetics. 18, 1, 83.

Research output: Contribution to journalArticle

MEN1 gene mutation with parathyroid carcinoma: First report of a familial case

Cinque, L., Sparaneo, A., Salcuni, A. S., De Martino, D., Battista, C., Logoluso, F., Palumbo, O., Cocchi, R., Maiello, E., Graziano, P., Hendy, G. N., Cole, D. E. C., Scillitani, A. & Guarnieri, V., Nov 1 2017, In : Endocrine Connections. 6, 8, p. 886-891 6 p.

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

TGFbeta and miRNA regulation in familial and sporadic breast cancer

Danza, K., De Summa, S., Pinto, R., Pilato, B., Palumbo, O., Carella, M., Popescu, O., Digennaro, M., Lacalamita, R. & Tommasi, S., Feb 7 2017, In : Oncotarget. 8, 31, p. 50715-50723 9 p.

Research output: Contribution to journalArticle

The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants

d'Orsi, G., Martino, T., Palumbo, O., Pascarella, M. G., Palumbo, P., Di Claudio, M. T., Avolio, C. & Carella, M., Dec 1 2017, In : Seizure. 53, p. 86-93 8 p.

Research output: Contribution to journalArticle

Wnt5a drives an invasive phenotype in human glioblastoma stem-like cells

Binda, E., Visioli, A., Giani, F., Trivieri, N., Palumbo, O., Restelli, S., Dezi, F., Mazza, T., Fusilli, C., Legnani, F., Carella, M., Di Meco, F., Duggal, R. & Vescovi, A. L., Feb 15 2017, In : Cancer Research. 77, 4, p. 996-1007 12 p.

Research output: Contribution to journalArticle

2016

Analysis of clock gene-miRNA correlation networks reveals candidate drivers in colorectal cancer

Mazzoccoli, G., Colangelo, T., Panza, A., Rubino, R., Tiberio, C., Palumbo, O., Carella, M., Trombetta, D., Gentile, A., Tavano, F., Valvano, M. R., Storlazzi, C. T., Macchia, G., De Cata, A., Bisceglia, G., Capocefalo, D., Colantuoni, V., Sabatino, L., Piepoli, A. & Mazza, T., 2016, In : Oncotarget. 7, 29, p. 45444-45461 18 p.

Research output: Contribution to journalArticle

A rare but recurrent t(8;13)(q24;q14) translocation in B-cell chronic lymphocytic leukaemia causing MYC up-regulation and concomitant loss of PVT1, miR-15/16 and DLEU7

Macchia, G., Lonoce, A., Venuto, S., Macrí, E., Palumbo, O., Carella, M., Lo Cunsolo, C., Iuzzolino, P., Hernández-Sánchez, M., Hernandez-Rivas, J. M. & Storlazzi, C. T., Jan 1 2016, In : British Journal of Haematology. 172, 2, p. 296-299 4 p.

Research output: Contribution to journalArticle

Clinical and molecular characterization of a de novo 19p13.3 microdeletion

Palumbo, P., Palumbo, O., Leone, M. P., Stallone, R., Palladino, T., Zelante, L. & Carella, M., May 27 2016, In : Molecular Cytogenetics. 9, 1, 40.

Research output: Contribution to journalArticle

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia

Palmieri, O., Mazza, T., Merla, A., Fusilli, C., Cuttitta, A., Martino, G., Latiano, T., Corritore, G., Bossa, F., Palumbo, O., Muscarella, L. A., Carella, M., Graziano, P., Andriulli, A. & Latiano, A., Aug 11 2016, In : Scientific Reports. 6, p. 31549

Research output: Contribution to journalArticle

miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype

Tommasi, S., Pinto, R., Danza, K., Pilato, B., Palumbo, O., Micale, L. & De Summa, S., Dec 6 2016, In : Oncotarget. 7, 49, p. 80363-80372 10 p.

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