1991 …2020

Research output per year

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Research Output

  • 220 Article
  • 2 Conference contribution
  • 2 Comment/debate
  • 2 Review article
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Article
2020

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

GEN-COVID Multicenter Study, 2020, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Open Access

A private 16q24.2q24.3 microduplication in a boy with intellectual disability, speech delay and mild dysmorphic features

Palumbo, O., Palumbo, P., Muro, E. D., Cinque, L., Petracca, A., Carella, M. & Castori, M., Jun 2020, In : Genes. 11, 6, p. 1-9 9 p., 707.

Research output: Contribution to journalArticle

Open Access

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

Dissecting molecular mechanisms of resistance to NOTCH1-targeted therapy in T-cell acute lymphoblastic leukemia xenografts

Agnusdei, V., Minuzzo, S., Pinazza, M., Gasparini, A., Pezzè, L., Amaro, A. A., Pasqualini, L., Del Bianco, P., Tognon, M., Frasson, C. C., Palumbo, P., Ciribilli, Y., Pfeffer, U., Carella, M., Amadori, A. & Indraccolo, S., 2020, In : Haematologica. 105, 5, p. 1317-1328 12 p.

Research output: Contribution to journalArticle

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance

Traversa, A., Marchionni, E., Giovannetti, A., Genovesi, M. L., Panzironi, N., Margiotti, K., Napoli, G., Piceci Sparascio, F., De Luca, A., Petrizzelli, F., Carella, M., Cardona, F., Bernardo, S., Manganaro, L., Mazza, T., Pizzuti, A. & Caputo, V., Aug 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 8, e1336.

Research output: Contribution to journalArticle

Open Access

Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome

Petrizzelli, F., Biagini, T., Barbieri, A., Parca, L., Panzironi, N., Castellana, S., Caputo, V., Vescovi, A. L., Carella, M. & Mazza, T., 2020, In : Computational and Structural Biotechnology Journal. 18, p. 2033-2042 10 p.

Research output: Contribution to journalArticle

Open Access

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: An illustrative case of the utility of whole exome sequencing in a critically ill neonate

Leone, M. P., Palumbo, P., Palumbo, O., Di Muro, E., Chetta, M., Laforgia, N., Resta, N., Stella, A., Castellana, S., Mazza, T., Castori, M., Carella, M. & Bukvic, N., May 27 2020, In : Italian Journal of Pediatrics. 46, 1, 74.

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

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Palumbo, P., Petracca, A., Maggi, R., Biagini, T., Nardella, G., Sacco, M. C., Di Schiavi, E., Carella, M., Micale, L. & Castori, M., Jan 1 2019, In : European Journal of Human Genetics.

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

Dissecting molecular mechanisms of resistance to Notch1-targeted therapy in T-cell acute lymphoblastic leukemia xenografts

Agnusdei, V., Minuzzo, S., Pinazza, M., Gasparini, A., Pezzè, L., Amaro, A. A., Pasqualini, L., Del Bianco, P., Tognon, M., Frasson, C., Palumbo, P., Ciribilli, Y., Pfeffer, U., Carella, M., Amadori, A. & Indraccolo, S., Aug 29 2019, In : Haematologica.

Research output: Contribution to journalArticle

Dissecting molecular mechanisms of resistance to Notch1-targeted therapy in T-cell acute lymphoblastic leukemia xenografts

Agnusdei, V., Minuzzo, S., Pinazza, M., Gasparini, A., Pezzè, L., Amaro, A. A., Pasqualini, L., Del Bianco, P., Tognon, M., Frasson, C., Palumbo, P., Ciribilli, Y., Pfeffer, U., Carella, M., Amadori, A. & Indraccolo, S., Aug 29 2019, In : Haematologica. p. 1-88 88 p.

Research output: Contribution to journalArticle

Open Access

Free D-aspartate triggers NMDA receptor-dependent cell death in primary cortical neurons and perturbs JNK activation, Tau phosphorylation, and protein SUMOylation in the cerebral cortex of mice lacking D-aspartate oxidase activity

Nuzzo, T., Feligioni, M., Cristino, L., Pagano, I., Marcelli, S., Iannuzzi, F., Imperatore, R., D'Angelo, L., Petrella, C., Carella, M., Pollegioni, L., Sacchi, S., Punzo, D., De Girolamo, P., Errico, F., Canu, N. & Usiello, A., Jul 1 2019, In : Experimental Neurology. 317, p. 51-65 15 p.

Research output: Contribution to journalArticle

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

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., Mar 1 2019, In : Journal of Experimental and Clinical Cancer Research. 38, 1, 108.

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

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

Traversa, A., Bernardo, S., Paiardini, A., Giovannetti, A., Marchionni, E., Genovesi, M. L., Guadagnolo, D., Torres, B., Paolacci, S., Bernardini, L., Mazza, T., Carella, M., Caputo, V. & Pizzuti, A., Jan 1 2019, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. e1054.

Research output: Contribution to journalArticle

Open Access

Pulmonary embolism associated with transfusion after severe post-partum haemorrhage: is less more?

Grandone, E., Colaizzo, D., Mastroianno, M., Petruzzelli, F., di Mauro, L., Carella, M., Tiscia, G. L. & Ostuni, A., Sep 12 2019, In : Blood Transfus. p. 1-6 6 p.

Research output: Contribution to journalArticle

Selective demethylation of two CpG sites causes postnatal activation of the Dao gene and consequent removal of D-serine within the mouse cerebellum

Cuomo, M., Keller, S., Punzo, D., Nuzzo, T., Affinito, O., Coretti, L., Carella, M., de Rosa, V., Florio, E., Boscia, F., Avvedimento, V. E., Cocozza, S., Errico, F., Usiello, A. & Chiariotti, L., Oct 28 2019, In : Clinical Epigenetics. 11, 1, 1 p.

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 levels of the NMDA receptor co-agonist D-serine are reduced in the substantia nigra of MPTP-lesioned macaques and in the cerebrospinal fluid of Parkinson’s disease patients

Nuzzo, T., Punzo, D., Devoto, P., Rosini, E., Paciotti, S., Sacchi, S., Li, Q., Thiolat, M. L., Véga, C., Carella, M., Carta, M., Gardoni, F., Calabresi, P., Pollegioni, L., Bezard, E., Parnetti, L., Errico, F. & Usiello, A., Dec 1 2019, In : Scientific Reports. 9, 1, 8898.

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

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
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

DNA methylation landscape of the genes regulating D-serine and D-aspartate metabolism in post-mortem brain from controls and subjects with schizophrenia

Keller, S., Punzo, D., Cuomo, M., Affinito, O., Coretti, L., Sacchi, S., Florio, E., Lembo, F., Carella, M., Copetti, M., Cocozza, S., Balu, D. T., Errico, F., Usiello, A. & Chiariotti, L., Dec 1 2018, In : Scientific Reports. 8, 1, 28332.

Research output: Contribution to journalArticle

Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies

Rosati, J., Ferrari, D., Altieri, F., Tardivo, S., Ricciolini, C., Fusilli, C., Zalfa, C., Profico, D. C., Pinos, F., Bernardini, L., Torres, B., Manni, I., Piaggio, G., Binda, E., Copetti, M., Lamorte, G., Mazza, T., Carella, M., Gelati, M., Valente, E. M. & 2 others, Simeone, A. & Vescovi, A. L., Oct 1 2018, In : Cell Death and Disease. 9, 10, 937.

Research output: Contribution to journalArticle

Insights from molecular characterization of adult patients of families with multigenerational diabetes

Pezzilli, S., Ludovico, O., Biagini, T., Mercuri, L., Alberico, F., Lauricella, E., Dallali, H., Capocefalo, D., Carella, M., Miccinilli, E., Piscitelli, P., Scarale, M. G., Mazza, T., Trischitta, V. & Prudente, S., Jan 1 2018, In : Diabetes. 67, 1, p. 137-145 9 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., 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., Apr 13 2017, In : American Journal of Medical Genetics, Part A.

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

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

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