Elena Bonora

@unibo.it

Associate Professor in medical genetics, Department of Medical and Surgical Sciences
University of Bologna

Elena Bonora


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https://researchid.co/elena_bonora

RESEARCH, TEACHING, or OTHER INTERESTS

Genetics, Molecular Medicine, Genetics (clinical)
118

Scopus Publications

Scopus Publications

  • Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstruction
    Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio
    Journal of Internal Medicine, 2026
    Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role in non‐mitochondrial cases is still unclear. Objective To investigate genetic and molecular contributors to CIPO, with a specific focus on intestinal microvasculature. Methods Jejunal samples from patients with CIPO were analysed by whole exome sequencing (WES) and mitochondrial DNA (mtDNA) profiling. Morphometric and immunohistochemical studies assessed collagen remodelling, vascular architecture, neuromuscular integrity and hypoxia. Expression of angiogenic factors, including thymidine phosphorylase (TP) and vascular endothelial growth factor (VEGF), was evaluated. Results WES did not identify known CIPO‐causing variants, but rare mutations in collagen‐related genes were detected in a subset of patients. Tissue analysis revealed higher fibrosis, vascular remodelling with a predominance of very small vessels, thinning of the longitudinal muscle and neuronal loss. TP and VEGF expression were significantly reduced, whereas hypoxia‐inducible factor‐1α (HIF‐1α) was markedly upregulated. mtDNA integrity and copy number were preserved, whereas haplogroup J was overrepresented. Multivariate analysis linked these alterations to a higher frequency of sub‐occlusive episodes. Conclusions Vascular dysfunction and collagen abnormalities emerge as key contributors to neuromuscular degeneration in CIPO. These findings provide novel mechanistic insights into disease pathophysiology and support further exploration of vascular‐targeted therapeutic strategies.
  • MicroRNAs in Esophageal Cancer: Implications for Diagnosis, Progression, Prognosis and Chemoresistance
    Erica Cataldi-Stagetti, Giulia Governatori, Arianna Orsini, Bianca De Nicolo, Rocco Maurizio Zagari, Elena Bonora
    International Journal of Molecular Sciences, 2026
    Esophageal cancer (EC), including esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC), remains a highly lethal disease because of its late diagnosis, significant biological heterogeneity, and frequent resistance to therapy. Growing evidence indicates that microRNAs (miRNAs) are key posttranscriptional regulators involved in tumor initiation, progression, metastasis, and response to treatment. This review provides a comprehensive and updated overview of miRNA dysregulation in both ESCC and EAC, with a specific focus on its emerging clinical relevance in early detection, prognostic assessment, and prediction of therapeutic response. Multiple tissue-based and circulating miRNA signatures, some capable of distinguishing between Barrett’s esophagus (BE), dysplasia, and EAC, demonstrate promising diagnostic performance. In parallel, several miRNAs, including miR-21, miR-23a, miR-455-3p, and miR-196b, have been consistently associated with chemoresistance and radioresistance. Moreover, distinct miRNA expression patterns are correlated with tumor aggressiveness, metastatic potential, and the risk of recurrence, supporting their integration with conventional histopathological and molecular parameters for improved patient stratification. Overall, miRNAs represent a powerful class of biomarkers and potential therapeutic targets in EC, with increasing translational relevance in precision oncology.
  • Idiopathic Pulmonary Fibrosis: Analysis of Predisposing Variants in Patients with Familial Forms
    Ilaria Stanghellini, Elena Bonora, Marco Sebastiani, Carlo Salvarani, Filippo Gozzi, Dario Andrisani, Roberto Tonelli, Nicola Rizzardi, Christian Bergamini, Federica Isidori, Marco Seri, Enrico Clini, Stefania Cerri, Olga Calabrese
    Biomedicines, 2026
    Background: idiopathic pulmonary fibrosis (IPF) causes progressive and irreversible changes in the lung parenchyma, leading to respiratory failure. Its pathogenesis involves several damage/repair mechanisms leading to fibrosis, whilst alterations of genes implicated in these processes contribute to the development of the disease. At present, next-generation sequencing (NGS) analyses investigate single-nucleotide or small indel variants, and no evaluation of genomic rearrangements has been so far reported. Methods: In order to identify predisposing variants, we analyzed—both by NGS and by comparative genomic hybridization/single-nucleotide polymorphism (CGH-SNP array) array—37 patients with a diagnosis of familial pulmonary fibrosis. Results: a total of 17 patients (46%) harbored copy number variations (CNVs), 10 (27%) did not harbor any CNVs, 5 (13.5%) showed a mosaic deletion of the Y chromosome, and 5 (13.5%) showed a run of homozygosity (ROH). NGS identified causative variants (including a novel one) in five patients (5/37, 13.5%) and confirmed the high prevalence of MUC5B promoter polymorphism rs35705950, including the detection of a previously unreported form in IPF SNP (indicated as “novel” in the main text), rs141420125 (23/37; 62%). Conclusions: CGH-SNP array identified CNVs containing genes involved in mechanisms (i.e., oxidative stress, mitophagy, NF-Kb pathway) that have been shown to play a role in the pathogenesis of IPF. Therefore, the application of CGH-SNP array or other quantitative tests should be considered in the diagnostic setup of these patients
  • Pyridostigmine improves feeding tolerance in pediatric intestinal pseudo-obstruction: A single-center analysis
    Teresa Capriati, Roberto De Giorgio, Fabrizio Chiusolo, Renato Tambucci, Fabio Fusaro, Tamara Caldaro, Chiara Maria Trovato, Elena Bonora, Antonella Diamanti
    Journal of Pediatric Gastroenterology and Nutrition, 2025
    ObjectivesPrimary and secondary forms of pediatric intestinal pseudo‐obstruction (PIPO) are severe intestinal dysmotility disorders with a high risk of mortality and poor quality of life. Nutritional supports and current management have improved in part the prognosis, although several unmet needs challenge physicians. Prokinetic drugs may facilitate enteral nutrition (EN)/oral feeding (OF) and decrease parenteral nutrition (PN). Pyridostigmine has been effectively used in adults with severe gut dysmotility; however, experience in PIPO patients is still limited.MethodsPatients intolerant to EN/OF in the previous 6 months were treated with pyridostigmine. We studied nutritional outcomes (caloric intake by EN/OF and PN as well as growth) at the beginning and after 6 and 12 months of pyridostigmine. Also, we collected clinical outcomes 12 months before and after pyridostigmine treatment.ResultsA total of 10 patients were included in the data analysis. Pyridostigmine (0.44–3.4 mg/Kg/day) resulted in a significant increase in EN tolerance: median caloric intake by EN/OF was >25% at 12 months (p = 0.0156). In two patients, we achieved complete weaning from PN. In all patients, there was an amelioration of growth (increase in median weight z‐score from −1.3 to −0.9) and a reduction in the number of hospitalizations and central line‐associated bloodstream infections in the year following pyridostigmine treatment. Only one patient developed pyridostigmine‐related bradycardia.ConclusionsThis study showed that pyridostigmine supported the nutritional management by improving EN/OF tolerance and reducing PN dependence. Our data provide a basis for future, ad hoc designed clinical trials testing pyridostigmine in PIPO.
  • Polygenic and Polyenvironment Interplay in Schizophrenia-Spectrum Disorder and Affective Psychosis; the EUGEI First Episode Study
    Victoria Rodriguez, Luis Alameda, Monica Aas, Charlotte Gayer-Anderson, Giulia Trotta, Edoardo Spinazzola, Diego Quattrone, Giada Tripoli, Hannah E Jongsma, Simona Stilo, Caterina La Cascia, Laura Ferraro, Daniele La Barbera, Antonio Lasalvia, Sarah Tosato, Ilaria Tarricone, Elena Bonora, Stéphane Jamain, Jean-Paul Selten, Eva Velthorst, Lieuwe de Haan, Pierre-Michel Llorca, Manuel Arrojo, Julio Bobes, Miguel Bernardo, Celso Arango, James Kirkbride, Peter B Jones, Bart P Rutten, Alexander Richards, Pak C Sham, Michael O’Donovan, Jim Van Os, Craig Morgan, Marta Di Forti, Robin M Murray, Evangelos Vassos
    Schizophrenia Bulletin, 2025
    Background Multiple genetic and environmental risk factors play a role in the development of both schizophrenia-spectrum disorders and affective psychoses. How they act in combination is yet to be clarified. Methods We analyzed 573 first episode psychosis cases and 1005 controls, of European ancestry. Firstly, we tested whether the association of polygenic risk scores for schizophrenia, bipolar disorder, and depression (PRS-SZ, PRS-BD, and PRS-D) with schizophrenia-spectrum disorder and affective psychosis differed when participants were stratified by exposure to specific environmental factors. Secondly, regression models including each PRS and polyenvironmental measures, including migration, paternal age, childhood adversity and frequent cannabis use, were run to test potential polygenic by polyenvironment interactions. Results In schizophrenia-spectrum disorder vs controls comparison, PRS-SZ was the strongest genetic predictor, having a nominally larger effect in nonexposed to strong environmental factors such as frequent cannabis use (unexposed vs exposed OR 2.43 and 1.35, respectively) and childhood adversity (3.04 vs 1.74). In affective psychosis vs controls, the relative contribution of PRS-D appeared to be stronger in those exposed to environmental risk. No evidence of interaction was found between any PRS with polyenvironmental score. Conclusions Our study supports an independent role of genetic liability and polyenvironmental risk for psychosis, consistent with the liability threshold model. Whereas schizophrenia-spectrum disorders seem to be mostly associated with polygenic risk for schizophrenia, having an additive effect with well-replicated environmental factors, affective psychosis seems to be a product of cumulative environmental insults alongside a higher genetic liability for affective disorders.
  • Interplay Between Childhood Maltreatment, Subclinical Post-Traumatic Stress Symptoms, and IQ: Findings From the EU-GEI Multicentre Case–Control Study
    Lucia Sideli, Monica Aas, Luis Alameda, Giulia Trotta, Daniele La Barbera, Caterina La Cascia, Laura Ferraro, Eva Velthorst, Giada Tripoli, Adriano Schimmenti, Andrea Fontana, Diego Quattrone, Charlotte Gayer‐Anderson, Victoria Rodriguez, Edoardo Spinazzola, Simona Stilo, Fabio Seminerio, Crocettarachele Sartorio, Giovanna Marrazzo, Antonio Lasalvia, Sarah Tosato, Ilaria Tarricone, Giuseppe D'Andrea, , Celso Arango, Manuel Arrojo, Miguel Bernardo, Julio Bobes, Julio Sanjuán, Jose Luis Santos, Paulo Rossi Menezes, Cristina Marta Del‐Ben, Hannah E. Jongsma, Peter B. Jones, James B. Kirkbride, Pierre‐Michel Llorca, Andrea Tortelli, Baptiste Pignon, Lieuwe de Haan, Jean‐Paul Selten, Jim Van Os, Bart P. Rutten, Marta Di Forti, Robin M. Murray, Craig Morgan, Helen L. Fisher
    Early Intervention in Psychiatry, 2025
    IntroductionEvidence suggests that childhood maltreatment affects cognitive performance in both patients with psychosis and community controls. However, the interplay between childhood maltreatment, post‐traumatic stress symptoms (PTSS), and intelligence has not been investigated. This study investigated the relationship between childhood maltreatment, subclinical PTSS, and intelligence among patients with first‐episode psychosis (FEP) and community controls.MethodsPatients with FEP (N = 602) and controls (N = 853) from the EU‐GEI study were assessed for childhood maltreatment, PTSS, and intelligence quotient (IQ).ResultsPTSS were associated with lower IQ among community controls but not among patients with FEP. In the FEP group, an interaction (p = 0.044) between PTSS and childhood maltreatment on IQ was found, such that the association between PTSS and lower IQ was only present among those exposed to childhood maltreatment. No interaction was evident in controls (p = 0.826).ConclusionsThe findings suggest the relevance of cognitive rehabilitation for FEP patients with childhood maltreatment and PTSS.
  • Metabolic Profiling of Distinct TP53-Mutant Esophageal Adenocarcinoma Models Reveals Different Bioenergetic Dependencies
    Erica Cataldi-Stagetti, Nicola Rizzardi, Arianna Orsini, Bianca De Nicolo, Chiara Diquigiovanni, et al.
    International Journal of Molecular Sciences, 2025
    Esophageal adenocarcinoma (EAC) is a highly aggressive malignancy with rising incidence and poor prognosis. TP53, previously identified as the most frequently mutated gene in EAC in our studies, plays a central role in tumor suppression and regulation. However, the metabolic consequences of TP53 mutations in EAC remain largely uncharacterized. We metabolically profiled three TP53-mutant EAC cell models (OE33, OE19, and FLO1) representing progressive stages of tumor differentiation and harboring distinct TP53 alterations. Our analyses revealed different metabolic phenotypes associated with TP53 status. OE33 cells predominantly use glycolytic metabolism but display limited adaptability to environmental changes, possibly due to a higher differentiation state. FLO1 cells exhibit a strong glycolytic dependence, elevated lactate production, and robust proliferation under acidic conditions, consistent with an aggressive and metastatic phenotype. OE19 cells preferentially utilize oxidative phosphorylation, demonstrated by resilience to glucose and glutamine deprivation, and ROS accumulation. These findings highlight the metabolic plasticity of EAC and suggest that TP53 mutation type might influence bioenergetic dependencies. Targeting these metabolic vulnerabilities may offer novel therapeutic avenues for personalized treatment in EAC.
  • Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice
    Giovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, Eliana Zacchi, Sara Calabrese, Isabelle Bacchi, Flavia Palombo, Sara Taormina, Cecilia Evangelisti, Giulia Lanzoni, Valerio Carelli, Chiara Diquigiovanni, Simona Ferrari, Emanuele Panza, Cesare Rossi, Alessandro Vaisfeld, Elena Bonora, Daniela Turchetti
    Clinical Genetics, 2025
    Broad‐spectrum genetic tests often lead to the identification of variants of uncertain significance (VUS), a major issue in modern clinical genetics. A fair proportion of VUS may alter the splicing processes, but their interpretation is challenging. This study aimed at providing a classification approach for VUS potentially‐affecting splicing by integrating transcript analysis from peripheral blood mRNA into routine diagnostics. VUS in DICER1, MSH2, MLH1, DYNC1H1, RPS6KA3, and SCN9A, found in patients with phenotypes compatible with the related syndromes, altered splicing, leading to their re‐classification as Pathogenic/Likely Pathogenic. This had a significant clinical impact for different diseases, from hereditary tumor predisposition to neurological and congenital syndromic disorders. Transcript analysis is valuable in VUS clinical evaluation, and its incorporation into routine diagnostic workflows facilitates timely and accurate clinical decision‐making.
  • Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts
    Carlotta Pia Cristalli, Sara Calabrese, Luca Caramanna, Andrea Pietra, Giulia Vitetta, Bianca De Nicolo, Elena Bonora, Giulia Severi, Soara Menabò, Simona Ferrari, Francesca Ciurli, Valeria Aiello, Irene Capelli, Andrea Pasini, Irene Alberici, Roberto Pillon, Claudio La Scola, Cesare Rossi, Francesca Montanari, Claudio Graziano
    Genes, 2025
    Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, affecting approximately 1 in 1000 individuals. This genetically heterogeneous condition is primarily caused by monoallelic pathogenic or likely pathogenic variants in the PKD1 and PKD2 genes, accounting for 78% and 15% of typical cases, respectively. Recently, the application of NGS methods has led to the identification of additional genes associated with ADPKD, which have been incorporated into routine diagnostic testing for detecting phenocopies of the disease. Methods: In this study, targeted NGS (tNGS) analysis of the main cystogenes associated with classic and atypical ADPKD was performed in a cohort of 218 patients clinically diagnosed with cystic nephropathies. Results: Genetic testing identified variants in 175 out of 218 cases (80.3%). Among these, 133 probands (76%) harbored likely pathogenic or pathogenic variants in one or more genes of the panel, while 42 individuals (24%) had a variant of unknown significance (VUS). Specifically, one or more class 4/5 variants in PKD1, PKD2, or both were identified in 111 (83.5%) probands. Remarkably, a pathogenic variant in the IFT140 gene was identified in 14 index cases (8% of positive individuals, 6.4% of the global cohort): 10 distinct loss-of-function (LoF) variants were identified (including four frameshift variants, four nonsense variants, and two splice site defects); one individual carried a second IFT140 missense variant classified as VUS. Furthermore, five affected family members were found to carry a P/LP LoF variant in IFT140. Conclusions: Our data support that IFT140 heterozygous IFT140 LoF variants result in an atypical, mild form of ADPKD, consisting of bilateral kidney cysts and renal functional decline at older ages. Furthermore, we describe the second pediatric patient with a mild form of ADPKD due to an IFT140 variant and discuss hyperuricemia as a previously unappreciated feature of this condition.
  • Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing
    Aayushi Srivastava, Diamanto Skopelitou, Beiping Miao, Sara Giagiobbe, Nagarajan Paramasivam, Abhishek Kumar, Chiara Diquigiovanni, Elena Bonora, Obul Reddy Bandapalli, Asta Försti, Kari Hemminki
    European Journal of Endocrinology, 2025
    Objective Thyroid cancer (TC) is the most common endocrine malignancy, with 90%-95% of the cases representing non–medullary thyroid cancer (NMTC). Familial cases account only for a few of all cases and the underlying genetic causes are still poorly understood. Methods We whole-genome sequenced affected and unaffected members of an Italian NMTC family and applied our in-house developed Familial Cancer Variant Prioritization Pipeline (FCVPPv2) which prioritized 12 coding variants. We refined this selection using the VarSome American College of Medical Genetics and Genomics (ACMG) implementation, SNAP2 predictions and further in silico scores. Results We prioritized 4 possibly pathogenic variants in 4 genes including Ret proto-oncogene (RET), polypeptide N-acetylgalactosaminyltransferase 10 (GALNT10), ubinuclein-1 (UBN1), and prostaglandin I2 receptor (PTGIR). The role of RET point mutations in medullary thyroid carcinoma is well established. Similarly, somatic rearrangements of RET are known in papillary TC, a specific histotype of NMTC. In contrast to RET, no germline variants in PTGIR, GALNT10, or UBN1 have been linked to the development of TC to date. However, alterations in these genes have been shown to affect pathways related to cell proliferation, apoptosis, growth, and differentiation, as well as posttranslational modification and gene regulation. A thorough review of the available literature together with computational evidence supported the interpretation of the 4 shortlisted variants as possibly disease-causing in this family. Conclusions Our results implicate the first germline variant in RET in a family with NMTC as well as the first germline variants in PTGIR, GALNT10, and UBN1 in TC.
  • Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction
    Chiara Diquigiovanni, Nicola Rizzardi, Erica Cataldi-Stagetti, Livia Gozzellino, Federica Isidori, Francesca Valenti, Arianna Orsini, Annalisa Astolfi, Tania Giangregorio, Loris Pironi, Elisa Boschetti, Serena Arrigo, Alessandra Maresca, Penelope Magnoni, Anna Costanzini, Valerio Carelli, Mariko Taniguchi-Ikeda, Romana Fato, Christian Bergamini, Roberto De Giorgio, Elena Bonora
    Gastroenterology, 2025
  • Pre-Surgical Endoscopic Biopsies Are Representative of Esophageal and Esophago-Gastric Junction Adenocarcinoma Histologic Classes and Survival Risk
    Alessandro Gambella, Roberto Fiocca, Marialuisa Lugaresi, Antonietta D’Errico, Deborah Malvi, Paola Spaggiari, Anna Tomezzoli, Luca Albarello, Ari Ristimäki, Luca Bottiglieri, Elena Bonora, Kausilia K. Krishnadath, Gian Domenico Raulli, Riccardo Rosati, Uberto Fumagalli Romario, Giovanni De Manzoni, Jari Räsänen, Sandro Mattioli, Federica Grillo, Luca Mastracci
    Cancers, 2024
  • The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies
    Isabelle Austin-Zimmerman, Edoardo Spinazzola, Diego Quattrone, Beatrice Wu-Choi, Giulia Trotta, Zhikun Li, Emma Johnson, Alexander L. Richards, Tom P. Freeman, Giada Tripoli, Charlotte Gayer-Anderson, Victoria Rodriguez, Hannah E. Jongsma, Laura Ferraro, Caterina La Cascia, Sarah Tosato, Ilaria Tarricone, Domenico Berardi, Elena Bonora, Marco Seri, Giuseppe D'Andrea, Andrei Szöke, Celso Arango, Julio Bobes, Julio Sanjuán, Jose Luis Santos, Manuel Arrojo, Eva Velthorst, Miguel Bernardo, Cristina Marta Del-Ben, Paulo Rossi Menezes, Jean-Paul Selten, Peter B. Jones, James B. Kirkbride, Bart P. F. Rutten, Andrea Tortelli, Pierre-Michel Llorca, Lieuwe de Haan, Simona Stilo, Daniele La Barbera, Antonio Lasalvia, Franck Schurnhoff, Baptiste Pignon, Jim van Os, Michael Lynskey, Craig Morgan, , Michael O’ Donovan, Cathryn M. Lewis, Pak C. Sham, Robin M. Murray, Evangelos Vassos, Marta Di Forti
    Psychological Medicine, 2024
  • miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma
    Isotta Bozzarelli, Arianna Orsini, Federica Isidori, Luca Mastracci, Deborah Malvi, Marialuisa Lugaresi, Silvia Fittipaldi, Livia Gozzellino, Annalisa Astolfi, Jari Räsänen, Antonia D’Errico, Riccardo Rosati, Roberto Fiocca, Marco Seri, Kausilia K. Krishnadath, Elena Bonora, Sandro Mattioli
    Cancers, 2024
  • Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting
    Federica Viti, Roberto De Giorgio, Isabella Ceccherini, Arti Ahluwalia, Maria M. Alves, Chiara Baldo, Giannina Baldussi, Elena Bonora, Osvaldo Borrelli, Luigi Dall’Oglio, Paolo De Coppi, Carlotta De Filippo, Pascal de Santa Barbara, Antonella Diamanti, Carlo Di Lorenzo, Ruggero Di Maulo, Antonio Galeone, Paolo Gandullia, Sohaib K. Hashmi, Florence Lacaille, Laurence Lancon, Salvatore Leone, Maxime M. Mahé, Maria Judit Molnar, Alessandro Palmitelli, Silvia Perin, Alessio Pini Prato, Nikhil Thapar, Massimo Vassalli, Robert O. Heuckeroth
    Digestive Diseases and Sciences, 2023
  • The relationship between genetic liability, childhood maltreatment, and IQ: findings from the EU-GEI multicentric case–control study
    Lucia Sideli, Monica Aas, Diego Quattrone, Daniele La Barbera, Caterina La Cascia, Laura Ferraro, Luis Alameda, Eva Velthorst, Giulia Trotta, Giada Tripoli, Adriano Schimmenti, Andrea Fontana, Charlotte Gayer-Anderson, Simona Stilo, Fabio Seminerio, Crocettarachele Sartorio, Giovanna Marrazzo, Antonio Lasalvia, Sarah Tosato, Ilaria Tarricone, Domenico Berardi, Giuseppe D’Andrea, , Silvia Amoretti, Álvaro Andreu-Bernabeu, Grégoire Baudin, Stephanie Beards, Chiara Bonetto, Elena Bonora, Bibiana Cabrera, Angel Carracedo, Thomas Charpeaud, Javier Costas, Doriana Cristofalo, Pedro Cuadrado, Manuel Durán-Cutilla, Aziz Ferchiou, David Fraguas, Nathalie Franke, Flora Frijda, Paz Garcia-Portilla, Javier González Peñas, Kathryn Hubbard, Stéphane Jamain, Estela Jiménez-López, Marion Leboyer, Cloe Llorente, Gonzalo López Montoya, Esther Lorente-Rovira, Covadonga M. Díaz-Caneja, Camila Marcelino Loureiro, Mario Matteis, Elles Messchaart, Ma Dolores Moltó, Gisela Mezquida, Carmen Moreno, Roberto Muratori, Juan Nacher, Mara Parellada, Marta Rapado-Castro, Mirella Ruggeri, Jean-Romain Richard, José Juan Rodríguez Solano, Pilar A. Sáiz, Teresa Sánchez-Gutierrez, Emilio Sánchez, Franck Schürhoff, Marco Seri, Rosana Shuhama, Fabian Termorshuizen, Anne-Marie Tronche, Daniella van Dam, Elsje van der Ven, Celso Arango, Manuel Arrojo, Miguel Bernardo, Julio Bobes, Julio Sanjuán, Jose Luis Santos, Paulo Rossi Menezes, Cristina Marta Del-Ben, Hannah E. Jongsma, Peter B. Jones, James B. Kirkbride, Pierre-Michel Llorca, Andrea Tortelli, Baptiste Pignon, Lieuwe de Haan, Jean-Paul Selten, Jim Van Os, Bart P. Rutten, Richard Bentall, Marta Di Forti, Robin M. Murray, Craig Morgan, Helen L. Fisher
    Social Psychiatry and Psychiatric Epidemiology, 2023
  • Differences in Patterns of Stimulant Use and Their Impact on First-Episode Psychosis Incidence: An Analysis of the EUGEI Study
    Elisa Rodríguez-Toscano, Clara Alloza, David Fraguas, Manuel Durán-Cutilla, Laura Roldán, Teresa Sánchez-Gutiérrez, Gonzalo López-Montoya, Mara Parellada, Carmen Moreno, Charlotte Gayer-Anderson, Hannah E Jongsma, Marta Di Forti, Diego Quattrone, Eva Velthorst, Lieuwe de Haan, Jean-Paul Selten, Andrei Szöke, Pierre-Michel Llorca, Andrea Tortelli, Julio Bobes, Miguel Bernardo, Julio Sanjuán, José Luis Santos, Manuel Arrojo, Ilaria Tarricone, Domenico Berardi, Mirella Ruggeri, Antonio Lasalvia, Laura Ferraro, Caterina La Cascia, Daniele La Barbera, Paulo Rossi Menezes, Cristina Marta Del-Ben, , Silvia Amoretti, Alvaro Andreu-Bernabeu, Grégoire Baudin, Stephanie Beards, Elena Bonora, Chiara Bonetto, Bibiana Cabrera, Angel Carracedo, Thomas Charpeaud, Javier Costas, Doriana Cristofalo, Pedro Cuadrado, Giuseppe D’Andrea, Aziz Ferchiou, Nathalie Franke, Flora Frijda, Paz Garcia-Portilla, Emiliano González, Kathryn Hubbard, Stéphane Jamain, Estela Jiménez-López, Marion Leboyer, Esther Lorente-Rovira, Camila Marcelino Loureiro, Giovanna Marrazzo, Mario Matteis, Elles Messchaart, Gisela Mezquida, Baptiste Pignon, Marta Rapado, Jean-Romain Richard, José Juan Rodríguez Solano, Mirella Ruggeri, Emilio Sánchez, Crocettarachele Sartorio, Franck Schürhoff, Fabio Seminerio, Marco Seri, Rosana Shuhama, Lucia Sideli, Simona A Stilo, Fabian Termorshuizen, Giada Tripoli, Anne-Marie Tronche, Daniella van Dam, Elsje van der Ven, Simona Stilo, Bart P Rutten, Jim van Os, Peter B Jones, Robin M Murray, James B Kirkbride, Craig Morgan, Covadonga M Díaz-Caneja, Celso Arango
    Schizophrenia Bulletin, 2023
  • Omics Technologies Improving Breast Cancer Research and Diagnostics
    Arianna Orsini, Chiara Diquigiovanni, Elena Bonora
    International Journal of Molecular Sciences, 2023
  • Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
    Chiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, Irene Liparulo, Francesca Bianco, Bianca De Nicolo, Erica Cataldi-Stagetti, Elisabetta Cuna, Giulia Severi, Marco Seri, Miriam Bertrand, Tobias B. Haack, Adela Della Marina, Frederik Braun, Romana Fato, Alma Kuechler, Christian Bergamini, Elena Bonora
    Open Biology, 2023
  • Use of multiple polygenic risk scores for distinguishing schizophrenia-spectrum disorder and affective psychosis categories in a first-episode sample; The EU-GEI study
    Victoria Rodriguez, Luis Alameda, Diego Quattrone, Giada Tripoli, Charlotte Gayer-Anderson, Edoardo Spinazzola, Giulia Trotta, Hannah E. Jongsma, Simona Stilo, Caterina La Cascia, Laura Ferraro, Daniele La Barbera, Antonio Lasalvia, Sarah Tosato, Ilaria Tarricone, Elena Bonora, Stéphane Jamain, Jean-Paul Selten, Eva Velthorst, Lieuwe de Haan, Pierre-Michel Llorca, Manuel Arrojo, Julio Bobes, Miguel Bernardo, Celso Arango, James Kirkbride, Peter B. Jones, Bart P. Rutten, Alexander Richards, Pak C. Sham, Michael O'Donovan, Jim Van Os, Craig Morgan, Marta Di Forti, Robin M. Murray, Evangelos Vassos
    Psychological Medicine, 2023
  • Detection of a Novel MSI2-C17orf64 Transcript in a Patient with Aggressive Adenocarcinoma of the Gastroesophageal Junction: A Case Report
    Anna Ferrari, Roberto Fiocca, Elena Bonora, Chiara Domizio, Eugenio Fonzi, Davide Angeli, Gian Domenico Raulli, Sandro Mattioli, Giovanni Martinelli, Chiara Molinari
    Genes, 2023
  • Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma
    Arianna Orsini, Luca Mastracci, Isotta Bozzarelli, Anna Ferrari, Federica Isidori, Roberto Fiocca, Marialuisa Lugaresi, Antonietta D’Errico, Deborah Malvi, Erica Cataldi-Stagetti, Paola Spaggiari, Anna Tomezzoli, Luca Albarello, Ari Ristimäki, Luca Bottiglieri, Kausilia K. Krishnadath, Riccardo Rosati, Uberto Fumagalli Romario, Giovanni De Manzoni, Jari Räsänen, Giovanni Martinelli, Sandro Mattioli, Elena Bonora, and
    Cancers, 2023
  • Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies
    Bianca De Nicolo, Erica Cataldi-Stagetti, Chiara Diquigiovanni, Elena Bonora
    Antioxidants, 2023
  • Editorial: Mitochondrial bioenergetics impairments in genetic and metabolic diseases
    Christian Bergamini, Elena Bonora, Noah Moruzzi
    Frontiers in Physiology, 2023
  • Evaluating the molecular and genetic mechanisms underlying gut motility disorders
    Atchariya Chanpong, Maria M. Alves, Elena Bonora, Roberto De Giorgio, Nikhil Thapar
    Expert Review of Gastroenterology and Hepatology, 2023
  • Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction
    Francesca Bianco, Giulia Lattanzio, Luca Lorenzini, Maurizio Mazzoni, Paolo Clavenzani, Laura Calzà, Luciana Giardino, Catia Sternini, Anna Costanzini, Elena Bonora, Roberto De Giorgio
    Biomolecules, 2022
  • Spartin: At the crossroad between ubiquitination and metabolism in cancer
    Vincenza Ylenia Cusenza, Elena Bonora, Nicola Amodio, Raffaele Frazzi
    Biochimica Et Biophysica Acta Reviews on Cancer, 2022
  • Selective targeting BMP2 and 4 in SMAD4 negative esophageal adenocarcinoma inhibits tumor growth and aggressiveness in preclinical models
    Shulin Li, Sanne J. M. Hoefnagel, Matthew Read, Sybren Meijer, Mark I. van Berge Henegouwen, Suzanne S. Gisbertz, Elena Bonora, David S. H. Liu, Wayne A. Phillips, Silvia Calpe, Ana C. P. Correia, Maria D. C. Sancho-Serra, Sandro Mattioli, Kausilia K. Krishnadath, and
    Cellular Oncology, 2022
  • Comment to the Description of a Novel Cohesinopathy in Chronic Intestinal Pseudo Obstruction
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    Journal of Neurogastroenterology and Motility, 2022
  • HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
    Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Marta Vidal-García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández-Jaén, Olson J. Rory, Benedikt Hallgrímsson, Ramon Y. Birnbaum
    Genome Research, 2022
  • Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants with Treatment Resistance in Schizophrenia
    Antonio F. Pardiñas, Sophie E. Smart, Isabella R. Willcocks, Peter A. Holmans, Charlotte A. Dennison, Amy J. Lynham, Sophie E. Legge, Bernhard T. Baune, Tim B. Bigdeli, Murray J. Cairns, Aiden Corvin, Ayman H. Fanous, Josef Frank, Brian Kelly, Andrew McQuillin, Ingrid Melle, Preben B. Mortensen, Bryan J. Mowry, Carlos N. Pato, Sathish Periyasamy, Marcella Rietschel, Dan Rujescu, Carmen Simonsen, David St Clair, Paul Tooney, Jing Qin Wu, Ole A. Andreassen, Kaarina Kowalec, Patrick F. Sullivan, Robin M. Murray, Michael J. Owen, James H. MacCabe, Michael C. O’Donovan, James T. R. Walters, Stephan Ripke, Benjamin M. Neale, Kai-How Farh, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Martin Begemann, Richard A . Belliveau, Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, William Byerley, Wiepke Cahn, Guiqing Cai, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberly D. Chambert, Raymond C. K. Chan, Ronald Y. L. Chen, Eric Y. H. Chen, Wei Cheng, Eric F. C. Cheung, Siow Ann Chong, C. Robert Cloninger, David Cohen, Nadine Cohen, Paul Cormican, Nick Craddock, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Franziska Degenhardt, Jurgen Del Favero, Lynn E. DeLisi, Ditte Demontis, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Naser Durmishi, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Martilias S. Farrell, Lude Franke, Robert Freedman, Nelson B. Freimer, Marion Friedl, Joseph I. Friedman, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Elliot S. Gershon, Ina Giegling, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Vera Golimbet, Srihari Gopal, Jacob Gratten, Lieuwe de Haan, Christian Hammer, Marian L. Hamshere, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Annette M. Hartmann, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, David M. Hougaard, Masashi Ikeda, Inge Joa, Antonio Julià, René S. Kahn, Luba Kalaydjieva, Sena Karachanak-Yankova, Juha Karjalainen, David Kavanagh, Matthew C. Keller, James L. Kennedy, Andrey Khrunin, Yunjung Kim, Janis Klovins, James A. Knowles, Bettina Konte, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Hana Kuzelova-Ptackova, Anna K. Kähler, Claudine Laurent, Jimmy Lee Chee Keong, S. Hong Lee, Bernard Lerer, Miaoxin Li, Tao Li, Kung-Yee Liang, Jeffrey Lieberman, Svetlana Limborska, Carmel M. Loughland, Jan Lubinski, Jouko Lönnqvist, Milan Macek, Patrik K. E. Magnusson, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Sara Marsal, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Andrew M. McIntosh, Sandra Meier, Carin J. Meijer, Bela Melegh, Ingrid Melle, Raquelle I. Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W. Morris, Ole Mors, Kieran C. Murphy, Inez Myin-Germeys, Bertram Müller-Myhsok, Mari Nelis, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Liene Nikitina-Zake, Laura Nisenbaum, Annelie Nordin, Eadbhard O’Callaghan, Colm O’Dushlaine, F. Anthony O’Neill, Sang-Yun Oh, Ann Olincy, Line Olsen, Jim Van Os, Christos Pantelis, George N. Papadimitriou, Sergi Papiol, Elena Parkhomenko, Michele T. Pato, Tiina Paunio, Milica Pejovic-Milovancevic, Diana O. Perkins, Olli Pietiläinen, Jonathan Pimm, Andrew J. Pocklington, John Powell, Alkes Price, Ann E. Pulver, Shaun M. Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander L. Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Alan R. Sanders, Ulrich Schall, Christian R. Schubert, Thomas G. Schulze, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Jianxin Shi, Engilbert Sigurdsson, Teimuraz Silagadze, Jeremy M. Silverman, Kang Sim, Petr Slominsky, Jordan W. Smoller, Hon-Cheong So, Chris C. A. Spencer, Eli A. Stahl, Hreinn Stefansson, Stacy Steinberg, Elisabeth Stogmann, Richard E. Straub, Eric Strengman, Jana Strohmaier, T. Scott Stroup, Mythily Subramaniam, Jaana Suvisaari, Dragan M. Svrakic, Jin P. Szatkiewicz, Erik Söderman, Srinivas Thirumalai, Draga Toncheva, Sarah Tosato, Juha Veijola, John Waddington, Dermot Walsh, Dai Wang, Qiang Wang, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel M. Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Emily H. M. Wong, Brandon K. Wormley, Hualin Simon Xi, Clement C. Zai, Xuebin Zheng, Fritz Zimprich, Naomi R. Wray, Kari Stefansson, Peter M. Visscher, Rolf Adolfsson, Douglas H. R. Blackwood, Elvira Bramon, Joseph D. 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    JAMA Psychiatry, 2022
  • Clinical and Pathological Features of Severe Gut Dysmotility
    Francesca Bianco, Elena Bonora, Giulia Lattanzio, Paolo Clavenzani, Matteo Guarino, Maurizio Mazzoni, Vito Antonio Baldassarro, Luca Lorenzini, Giacomo Caio, Vincenzo Stanghellini, Catia Sternini, Gianrico Farrugia, Luciana Giardino, Laura Calzà, Roberto De Giorgio
    Advances in Experimental Medicine and Biology, 2022
  • The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study
    Diego Quattrone, Ulrich Reininghaus, Alex L. Richards, Giada Tripoli, Laura Ferraro, Andrea Quattrone, Paolo Marino, Victoria Rodriguez, Edoardo Spinazzola, Charlotte Gayer-Anderson, Hannah E. Jongsma, Peter B. Jones, Caterina La Cascia, Daniele La Barbera, Ilaria Tarricone, Elena Bonora, Sarah Tosato, Antonio Lasalvia, Andrei Szöke, Celso Arango, Miquel Bernardo, Julio Bobes, Cristina Marta Del Ben, Paulo Rossi Menezes, Pierre-Michel Llorca, Jose Luis Santos, Julio Sanjuán, Manuel Arrojo, Andrea Tortelli, Eva Velthorst, Steven Berendsen, Lieuwe de Haan, Bart P. F. Rutten, Michael T. Lynskey, Tom P. Freeman, James B. Kirkbride, Pak C. Sham, Michael C. O’Donovan, Alastair G. Cardno, Evangelos Vassos, Jim van Os, Craig Morgan, Robin M. Murray, Cathryn M. Lewis, Marta Di Forti, Kathryn Hubbard, Stephanie Beards, Simona A. Stilo, Mara Parellada, David Fraguas, Marta Rapado Castro, Álvaro Andreu-Bernabeu, Gonzalo López, Mario Matteis, Emiliano González, Manuel Durán-Cutilla, Covadonga M. Díaz-Caneja, Pedro Cuadrado, José Juan Rodríguez Solano, Angel Carracedo, Javier Costas, Emilio Sánchez, Silvia Amoretti, Esther Lorente-Rovira, Paz Garcia-Portilla, Estela Jiménez-López, Nathalie Franke, Daniella van Dam, Fabian Termorshuizen, Nathalie Franke, Elsje van der Ven, Elles Messchaart, Marion Leboyer, Franck Schürhoff, Stéphane Jamain, Grégoire Baudin, Aziz Ferchiou, Baptiste Pignon, Jean-Romain Richard, Thomas Charpeaud, Anne-Marie Tronche, Flora Frijda, Giovanna Marrazzo, Lucia Sideli, Crocettarachele Sartorio, Fabio Seminerio, Camila Marcelino Loureiro, Rosana Shuhama, Mirella Ruggeri, Chiara Bonetto, Doriana Cristofalo, Domenico Berardi, Marco Seri, Giuseppe D’Andrea, and
    Translational Psychiatry, 2021
  • The prognostic impact of histology in esophageal and esophago-gastric junction adenocarcinoma
    Roberto Fiocca, Luca Mastracci, Marialuisa Lugaresi, Federica Grillo, Antonietta D’Errico, Deborah Malvi, Paola Spaggiari, Anna Tomezzoli, Luca Albarello, Ari Ristimäki, Luca Bottiglieri, Elena Bonora, Kausilia K. Krishnadath, Gian Domenico Raulli, Riccardo Rosati, Uberto Fumagalli Romario, Giovanni De Manzoni, Jari Räsänen, Sandro Mattioli
    Cancers, 2021
  • PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis
    Giovanni Innella, Elena Bonora, Iria Neri, Annalucia Virdi, Alba Guglielmo, Laura Maria Pradella, Claudio Ceccarelli, Laura Benedetta Amato, Anna Lanzoni, Sara Miccoli, Giuseppe Gasparre, Roberta Zuntini, Daniela Turchetti
    Frontiers in Medicine, 2021
  • Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
    Francesca Bianco, Giulia Lattanzio, Luca Lorenzini, Chiara Diquigiovanni, Maurizio Mazzoni, Paolo Clavenzani, Laura Calzà, Luciana Giardino, Catia Sternini, Elena Bonora, Roberto De Giorgio
    European Journal of Histochemistry, 2021
  • Detecting variants in the nbn gene while testing for hereditary breast cancer: What to do next?
    Roberta Zuntini, Elena Bonora, Laura Maria Pradella, Laura Benedetta Amato, Michele Vidone, Sara De Fanti, Irene Catucci, Laura Cortesi, Veronica Medici, Simona Ferrari, Giuseppe Gasparre, Paolo Peterlongo, Marco Sazzini, Daniela Turchetti
    International Journal of Molecular Sciences, 2021
  • Genetics of familial non-medullary thyroid carcinoma (FNMTC)
    Chiara Diquigiovanni, Elena Bonora
    Cancers, 2021
  • Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
    Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Cenacchi, Rita Casadio, Pierluigi Martelli, Ivana Matera, Isabella Ceccherini, Romana Fato, Giuseppe Raiola, Serena Arrigo, Sara Signa, Angela Rita Sementa, Mariasavina Severino, Pasquale Striano, Chiara Fiorillo, Tsuyoshi Goto, Shumpei Uchino, Yoshinobu Oyazato, Hisayoshi Nakamura, Sushil K Mishra, Yu-Sheng Yeh, Takema Kato, Kandai Nozu, Jantima Tanboon, Ichiro Morioka, Ichizo Nishino, Tatsushi Toda, Yu-ichi Goto, Akira Ohtake, Kenjiro Kosaki, Yoshiki Yamaguchi, Ikuya Nonaka, Kazumoto Iijima, Masakazu Mimaki, Hiroki Kurahashi, Anja Raams, Alyson MacInnes, Mariel Alders, Marc Engelen, Gabor Linthorst, Tom de Koning, Wilfred den Dunnen, Gerard Dijkstra, Karin van Spaendonck, Dik C van Gent, Eleonora M Aronica, Paolo Picco, Valerio Carelli, Marco Seri, Nicholas Katsanis, Floor A M Duijkers, Mariko Taniguchi-Ikeda, Roberto De Giorgio
    Brain, 2021
  • Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer
    Aayushi Srivastava, Sara Giangiobbe, Diamanto Skopelitou, Beiping Miao, Nagarajan Paramasivam, Chiara Diquigiovanni, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
    Frontiers in Endocrinology, 2021
  • A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder
    Claudio Graziano, Patrick Despang, Flavia Palombo, Giulia Severi, Annio Posar, Alessandra Cassio, Tommaso Pippucci, Federica Isidori, Jan Matthes, Elena Bonora
    Journal of Autism and Developmental Disorders, 2021
  • Rasal1 and ros1 gene variants in hereditary breast cancer
    Federica Isidori, Isotta Bozzarelli, Simona Ferrari, Lea Godino, Giovanni Innella, Daniela Turchetti, Elena Bonora
    Cancers, 2020
  • Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations
    Federica Isidori, Isotta Bozzarelli, Luca Mastracci, Deborah Malvi, Marialuisa Lugaresi, Chiara Molinari, Henna Söderström, Jari Räsänen, Antonia D'Errico, Roberto Fiocca, Marco Seri, Kausilia K. Krishnadath, Elena Bonora, Sandro Mattioli
    Clinical and Translational Gastroenterology, 2020
  • A germline mutation in the POT1 gene is a candidate for familial non-medullary thyroid cancer
    Aayushi Srivastava, Beiping Miao, Diamanto Skopelitou, Varun Kumar, Abhishek Kumar, Nagarajan Paramasivam, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
    Cancers, 2020
  • Mast cell-nerve interactions correlate with bloating and abdominal pain severity in patients with non-celiac gluten / wheat sensitivity
    Fiorella Giancola, Umberto Volta, Roberta Repossi, Rocco Latorre, Dorien Beeckmans, Florencia Carbone, Karen Van den Houte, Francesca Bianco, Elena Bonora, Alessandra Gori, Anna Costanzini, Elisa Boschetti, Giacomo Caio, Tim Vanuytsel, Vincenzo Stanghellini, Jan Tack, Roberto De Giorgio
    Neurogastroenterology and Motility, 2020
  • BRAF exon 15 mutations in papillary carcinoma and adjacent thyroid parenchyma: A search for the early molecular events associated with tumor development
    Giorgia Acquaviva, Dario de Biase, Chiara Diquigiovanni, Chiara Maria Argento, Antonio De Leo, Elena Bonora, Kerry Jane Rhoden, Annalisa Pession, Giovanni Tallini
    Cancers, 2020
  • Whole genome sequencing of familial non-medullary thyroid cancer identifies germline alterations in MAPK/ERK and PI3K/AKT signaling pathways
    Aayushi Srivastava, Abhishek Kumar, Sara Giangiobbe, Elena Bonora, Kari Hemminki, Asta Försti, Obul Bandapalli
    Biomolecules, 2019
  • A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism
    Chiara Diquigiovanni, Christian Bergamini, Rebeca Diaz, Irene Liparulo, Francesca Bianco, Luca Masin, Vito Antonio Baldassarro, Nicola Rizzardi, Antonia Tranchina, Francesco Buscherini, Anita Wischmeijer, Tommaso Pippucci, Emanuela Scarano, Duccio Maria Cordelli, Romana Fato, Marco Seri, Silvia Paracchini, Elena Bonora
    FASEB Journal, 2019
  • Gut epithelial and vascular barrier abnormalities in patients with chronic intestinal pseudo-obstruction
    Elisa Boschetti, Anna Accarino, Carolina Malagelada, Juan R. Malagelada, Rosanna F. Cogliandro, Alessandra Gori, Vitaliano Tugnoli, Fiorella Giancola, Francesca Bianco, Elena Bonora, Paolo Clavenzani, Umberto Volta, Giacomo Caio, Catia Sternini, Vincenzo Stanghellini, Fernando Azpiroz, Roberto De Giorgio
    Neurogastroenterology and Motility, 2019
  • HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
    Giulia Severi, Elena Bonora, Annamaria Perri, Emanuela Scarano, Laura Mazzanti, Federica Isidori, Roberta Zuntini, Soara Menabò, Claudio Graziano
    Cytogenetic and Genome Research, 2019
  • Gender, Genoma, and Health
    Elena Bonora
    Health and Gender Resilience and Vulnerability Factors for Women S Health in the Contemporary Society, 2019
  • Analysis of a sardinian multiplex family with autism spectrum disorder points to post-synaptic density gene variants and identifies CAPG as a functionally relevant candidate gene
    Elena Bacchelli, Eleonora Loi, Cinzia Cameli, Loredana Moi, Ana Vega Benedetti, Sylvain Blois, Antonio Fadda, Elena Bonora, Sandra Mattu, Roberta Fadda, Rita Chessa, Elena Maestrini, Giuseppe Doneddu, Patrizia Zavattari
    Journal of Clinical Medicine, 2019
  • Enteric neuron density correlates with clinical features of severe gut dysmotility
    Elisa Boschetti, Carolina Malagelada, Anna Accarino, Juan R. Malagelada, Rosanna F. Cogliandro, Alessandra Gori, Elena Bonora, Fiorella Giancola, Francesca Bianco, Vitaliano Tugnoli, Paolo Clavenzani, Fernando Azpiroz, Vincenzo Stanghellini, Catia Sternini, Roberto De Giorgio
    American Journal of Physiology Gastrointestinal and Liver Physiology, 2019
  • Identification of brca1/2 p.ser1613gly, p.pro871leu, p.lys1183arg, p.glu1038gly, p.ser1140gly, p.ala2466val, p.his2440arg variants in women under 45 years old with breast nodules suspected of having breast cancer in burkina faso
    Tani Sagna, Elena Bonora, Marie Nabonswindé Lamoussa Ouedraogo, Daniela Fusco, Abdou Azaque Zoure, Cyrille Bisseye, Florencia Djigma, Jacques Gilbert Kafando, Nayi Zongo, Zoenabo Douamba, Dorcas Obiri-Yeboah, Daniela Turchetti, Virginio Pietra, Olga Melanie Lompo, Charlemagne Ouedraogo, Marco Seri, Jacques Simpore
    Biomolecular Concepts, 2019
  • Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family
    Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam, Sara Giangiobbe, Chiara Diquigiovanni, Elena Bonora, Roland Eils, Matthias Schlesner, Kari Hemminki, Asta Försti
    Scientific Reports, 2018
  • Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer
    Chiara Diquigiovanni, Christian Bergamini, Cecilia Evangelisti, Federica Isidori, Andrea Vettori, Natascia Tiso, Francesco Argenton, Anna Costanzini, Luisa Iommarini, Hima Anbunathan, Uberto Pagotto, Andrea Repaci, Giulia Babbi, Rita Casadio, Giorgio Lenaz, Kerry J. Rhoden, Anna Maria Porcelli, Romana Fato, Anne Bowcock, Marco Seri, Giovanni Romeo, Elena Bonora
    International Journal of Cancer, 2018
  • Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report
    EAC-BAGH group, Federica Isidori, Deborah Malvi, Silvia Fittipaldi, Claudio Forcato, Isotta Bozzarelli, Claudia Sala, Giovanni Raulli, Antonia D’Errico, Michelangelo Fiorentino, Marco Seri, Kausilia K. Krishnadath, Elena Bonora, Sandro Mattioli
    BMC Cancer, 2018
  • Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help?
    Roberta Zuntini, Simona Ferrari, Elena Bonora, Francesco Buscherini, Benedetta Bertonazzi, Mina Grippa, Lea Godino, Sara Miccoli, Daniela Turchetti
    Frontiers in Genetics, 2018
  • Expression of RAD21 immunoreactivity in myenteric neurons of the human and mouse small intestine
    F. Bianco, S. T. Eisenman, M. G. Colmenares Aguilar, E. Bonora, P. Clavenzani, D. R. Linden, R. De Giorgio, G. Farrugia, S. J. Gibbons
    Neurogastroenterology and Motility, 2018
  • INPP4B overexpression and c-KIT downregulation in human achalasia
    E. Bonora, F. Bianco, A. Stanzani, F. Giancola, A. Astolfi, V. Indio, C. Evangelisti, A. M. Martelli, E. Boschetti, M. Lugaresi, A. Ioannou, F. Torresan, V. Stanghellini, P. Clavenzani, M. Seri, A. Moonen, K. Van Beek, M. Wouters, G. E. Boeckxstaens, G. Zaninotto, S. Mattioli, R. De Giorgio
    Neurogastroenterology and Motility, 2018
  • Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients
    Michele Ciavarella, Sara Miccoli, Anna Prossomariti, Tommaso Pippucci, Elena Bonora, Francesco Buscherini, Flavia Palombo, Roberta Zuntini, Tiziana Balbi, Claudio Ceccarelli, Franco Bazzoli, Luigi Ricciardiello, Daniela Turchetti, Giulia Piazzi
    European Journal of Human Genetics, 2018
  • Correction to: Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study (Journal of Neuro-Oncology, (2016), 128, 1, (157-162), 10.1007/s11060-016-2093-1)
    Enrico Franceschi, , Roberta Depenni, Alexandro Paccapelo, Mario Ermani, Marina Faedi, Carmelo Sturiale, Maria Michiara, Franco Servadei, Giacomo Pavesi, Benedetta Urbini, Anna Pisanello, Girolamo Crisi, Michele A. Cavallo, Claudio Dazzi, Claudia Biasini, Federica Bertolini, Claudia Mucciarini, Giuseppe Pasini, Agostino Baruzzi, Alba A. Brandes
    Journal of Neuro Oncology, 2018
  • Erratum to: Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy (Neurol Sci, 10.1007/s10072-016-2747-y)
    Elisa Baldin, , Stefania Testoni, Silvia de Pasqua, Salvatore Ferro, Fiorenzo Albani, Agostino Baruzzi, Roberto D’Alessandro
    Neurological Sciences, 2017
  • Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy
    Elisa Baldin, , Stefania Testoni, Silvia de Pasqua, Salvatore Ferro, Fiorenzo Albani, Agostino Baruzzi, Roberto D’Alessandro
    Neurological Sciences, 2017
  • Protective Actions of Epithelial 5-Hydroxytryptamine 4 Receptors in Normal and Inflamed Colon
    Stephanie N. Spohn, Francesca Bianco, Rachel B. Scott, Catherine M. Keenan, Alisha A. Linton, Conor H. O'Neill, Elena Bonora, Michael Dicay, Brigitte Lavoie, Rebecca L. Wilcox, Wallace K. MacNaughton, Roberto De Giorgio, Keith A. Sharkey, Gary M. Mawe
    Gastroenterology, 2016
  • Enteric neuropathies: Yesterday, Today and Tomorrow
    Roberto De Giorgio, Francesca Bianco, Rocco Latorre, Giacomo Caio, Paolo Clavenzani, Elena Bonora
    Advances in Experimental Medicine and Biology, 2016
  • Prucalopride exerts neuroprotection in human enteric neurons
    Francesca Bianco, Elena Bonora, Dipa Natarajan, Manuela Vargiolu, Nikhil Thapar, Francesco Torresan, Fiorella Giancola, Elisa Boschetti, Umberto Volta, Franco Bazzoli, Maurizio Mazzoni, Marco Seri, Paolo Clavenzani, Vincenzo Stanghellini, Catia Sternini, Roberto De Giorgio
    American Journal of Physiology Gastrointestinal and Liver Physiology, 2016
  • Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study
    Enrico Franceschi, , Roberta Depenni, Alexandro Paccapelo, Mario Ermani, Marina Faedi, Carmelo Sturiale, Maria Michiara, Franco Servadei, Giacomo Pavesi, Benedetta Urbini, Anna Pisanello, Girolamo Crisi, Michele A. Cavallo, Claudio Dazzi, Claudia Biasini, Federica Bertolini, Claudia Mucciarini, Giuseppe Pasini, Agostino Baruzzi, Alba A. Brandes
    Journal of Neuro Oncology, 2016
  • Expression of the Bitter taste receptor, T2R38, in enteroendocrine cells of the colonic mucosa of overweight/obese vs. Lean subjects
    Rocco Latorre, Jennifer Huynh, Maurizio Mazzoni, Arpana Gupta, Elena Bonora, Paolo Clavenzani, Lin Chang, Emeran A. Mayer, Roberto De Giorgio, Catia Sternini
    Plos One, 2016
  • Neuroactive Steroids in First-Episode Psychosis: A Role for Progesterone?
    Martino Belvederi Murri, Flaminia Fanelli, Uberto Pagotto, Elena Bonora, Federico Triolo, Luigi Chiri, Fabio Allegri, Marco Mezzullo, Marco Menchetti, Valeria Mondelli, Carmine Pariante, Domenico Berardi, Ilaria Tarricone
    Schizophrenia Research and Treatment, 2016
  • Erratum to: Survival prediction in high-grade gliomas using CT perfusion imaging [J Neurooncol (2015) 123, 93-102, DOI 10.1007/s11060-015-1766-5]
    Timothy Pok Chi Yeung, , Yong Wang, Wenqing He, Benedetta Urbini, Roberta Gafà, Linda Ulazzi, Slav Yartsev, Glenn Bauman, Ting-Yim Lee, Enrico Fainardi
    Journal of Neuro Oncology, 2015
  • Survival prediction in high-grade gliomas using CT perfusion imaging
    The Project of Emilia-Romagna Region on Neuro-Oncology (PERNO) Study Group, Timothy Pok Chi Yeung, Yong Wang, Wenqing He, Benedetta Urbini, Roberta Gafà, Linda Ulazzi, Slav Yartsev, Glenn Bauman, Ting-Yim Lee, Enrico Fainardi
    Journal of Neuro Oncology, 2015
  • Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
    Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci, Carlo Fusco, Chiara Diquigiovanni, Margit Nõukas, Martin Sauk, Ants Kurg, Francesca Rivieri, Nenad Blau, Georg F. Hoffmann, Alka Chaubey, Charles E. Schwartz, Giovanni Romeo, Elena Bonora, Livia Garavelli, Marco Seri
    Gene, 2015
  • Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction
    Elena Bonora, Francesca Bianco, Lina Cordeddu, Michael Bamshad, Ludmila Francescatto, Dustin Dowless, Vincenzo Stanghellini, Rosanna F. Cogliandro, Greger Lindberg, Zeynel Mungan, Kivanc Cefle, Tayfun Ozcelik, Sukru Palanduz, Sukru Ozturk, Asuman Gedikbasi, Alessandra Gori, Tommaso Pippucci, Claudio Graziano, Umberto Volta, Giacomo Caio, Giovanni Barbara, Mauro D'Amato, Marco Seri, Nicholas Katsanis, Giovanni Romeo, Roberto De Giorgio
    Gastroenterology, 2015
  • A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors
    Cecilia Evangelisti, Dario de Biase, Ivana Kurelac, Claudio Ceccarelli, Holger Prokisch, Thomas Meitinger, Paola Caria, Roberta Vanni, Giovanni Romeo, Giovanni Tallini, Giuseppe Gasparre, Elena Bonora
    BMC Cancer, 2015
  • HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
    L. A. Jolly, L. S. Nguyen, D. Domingo, Y. Sun, S. Barry, M. Hancarova, P. Plevova, M. Vlckova, M. Havlovicova, V. M. Kalscheuer, C. Graziano, T. Pippucci, E. Bonora, Z. Sedlacek, J. Gecz
    Human Molecular Genetics, 2015
  • Corrigendum to Expression of 19 microRNAs in glioblastoma and comparison with other brain neoplasia of grades I-III [Mol. Oncol. 8 (2) (2014) 417-30]
    Michela Visani, Dario de Biase, Gianluca Marucci, Serenella Cerasoli, Evandro Nigrisoli, Maria Letizia Bacchi Reggiani, Fiorenzo Albani, Agostino Baruzzi, Annalisa Pession
    Molecular Oncology, 2015
  • Corrigendum: Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients(EMBO Mol Med, (2014), 6, (795–809), 10.1002/emmm.201303235)
    Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo
    EMBO Molecular Medicine, 2014
  • Pattern of care and effectiveness of treatment for glioblastoma patients in the real world: Results from a prospective population-based registry. Could survival differ in a high-volume center?
    Alba A. Brandes, Enrico Franceschi, Mario Ermani, Alicia Tosoni, Fiorenzo Albani, Roberta Depenni, Marina Faedi, Anna Pisanello, Girolamo Crisi, Benedetta Urbini, Claudio Dazzi, Luigi Cavanna, Claudia Mucciarini, Giuseppe Pasini, Stefania Bartolini, Gianluca Marucci, Luca Morandi, Elena Zunarelli, Serenella Cerasoli, Giorgio Gardini, Giovanni Lanza, Enrico Maria Silini, Silvio Cavuto, Agostino Baruzzi, A. Baruzzi, F. Albani, F. Calbucci, R. D'Alessandro, R. Michelucci, A. Brandes, V. Eusebi, S. Ceruti, E. Fainardi, R. Tamarozzi, E. Emiliani, M. Cavallo, E. Franceschi, A. Tosoni, M. Cavallo, F. Fiorica, A. Valentini, R. Depenni, C. Mucciarini, G. Crisi, E. Sasso, C. Biasini, L. Cavanna, D. Guidetti, N. Marcello, A. Pisanello, A.M. Cremonini, G. Guiducci, S. de Pasqua, S. Testoni, R. Agati, G. Ambrosetto, A. Bacci, E. Baldin, A. Baldrati, E. Barbieri, S. Bartolini, E. Bellavista, F. Bisulli, E. Bonora, F. Bunkheila, V. Carelli, M. Crisci, P. Dall'Occa, D. de Biase, S. Ferro, C. Franceschi, G. Frezza, V. Grasso, M. Leonardi, G. Marucci, V. Mazzocchi, L. Morandi, B. Mostacci, G. Palandri, E. Pasini, M. Pastore Trossello, A. Pession, M. Ragazzi, P. Riguzzi, R. Rinaldi, S. Rizzi, G. Romeo, F. Spagnolli, P. Tinuper, C. Trocino, S. Cerasoli, M. Dall'Agata, M. Faedi, M. Frattarelli, G. Gentili, A. Giovannini, P. Iorio, U. Pasquini, G. Galletti, C. Guidi, W. Neri, A. Patuelli, S. Strumia, M. Casmiro, A. Gamboni, F. Rasi, G. Cruciani, P. Cenni, C. Dazzi, AR. Guidi, F. Zumaglini, A. Amadori, G. Pasini, M. Pasquinelli, E. Pasquini, A. Polselli, A. Ravasio, B. Viti, M. Sintini, A. Ariatti, F. Bertolini, G. Bigliardi, P. Carpeggiani, F. Cavalleri, S. Meletti, P. Nichelli, E. Pettorelli, G. Pinna, E. Zunarelli, F. Artioli, I. Bernardini, M. Costa, G. Greco, R. Guerzoni, C. Stucchi, C. Iaccarino, R. Rizzi, G. Zuccoli, P. Api, F. Cartei, E. Fallica, E. Granieri, F. Latini, G. Lelli, C. Monetti, V. Ramponi, A. Saletti, R. Schivalocchi, S. Seraceni, M.R. Tola, B. Urbini, C. Giorgi, E. Montanari, D. Cerasti, P. Crafa, I. Dascola, I. Florindo, S. Mazza, F. Servadei, EM. Silini, P. Torelli, P. Immovilli, N. Morelli, C. Vanzo
    Neuro Oncology Practice, 2014
  • A CTNNA3 compound heterozygous deletion implicates a role for αt-catenin in susceptibility to autism spectrum disorder
    Elena Bacchelli, Fabiola Ceroni, Dalila Pinto, Silvia Lomartire, Maila Giannandrea, Patrizia D'Adamo, Elena Bonora, Piero Parchi, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini
    Journal of Neurodevelopmental Disorders, 2014
  • The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma
    Elena Bonora, Cosmeri Rizzato, Chiara Diquigiovanni, Tiphaine Oudot‐Mellakh, Daniele Campa, Manuela Vargiolu, Mickaël Guedj, The NMTC Consortium, James D. McKay, Giovanni Romeo, Federico Canzian, Fabienne Lesueur
    International Journal of Cancer, 2014
  • Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
    Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo
    EMBO Molecular Medicine, 2014
  • Expression of 19 microRNAs in glioblastoma and comparison with other brain neoplasia of grades I-III
    Michela Visani, Dario de Biase, Gianluca Marucci, Serenella Cerasoli, Evandro Nigrisoli, Maria Letizia Bacchi Reggiani, Fiorenzo Albani, Agostino Baruzzi, Annalisa Pession, and
    Molecular Oncology, 2014
  • Identifying gene-environment interactions in schizophrenia: Contemporary challenges for integrated, large-scale investigations
    European Network of National Networks studying Gene-Environment Interactions in Schizophrenia (EU-GEI)
    Schizophrenia Bulletin, 2014
  • EXCAVATOR: Detecting copy number variants from whole-exome sequencing data
    Alberto Magi, Lorenzo Tattini, Ingrid Cifola, Romina D’Aurizio, Matteo Benelli, Eleonora Mangano, Cristina Battaglia, Elena Bonora, Ants Kurg, Marco Seri, Pamela Magini, Betti Giusti, Giovanni Romeo, Tommaso Pippucci, Gianluca De Bellis, Rosanna Abbate, Gian Franco Gensini
    Genome Biology, 2013
  • Epilepsy in primary cerebral tumors: The characteristics of epilepsy at the onset (results from the PERNO study-Project of Emilia Romagna Region on Neuro-Oncology)
    Roberto Michelucci, Elena Pasini, Stefano Meletti, Elisa Fallica, Romana Rizzi, Irene Florindo, Annalisa Chiari, Cinzia Monetti, Anna Maria Cremonini, Stefano Forlivesi, Fiorenzo Albani, Agostino Baruzzi, the PERNO Study Group
    Epilepsia, 2013
  • Oncocytic glioblastoma: A glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number
    Gianluca Marucci, Alessandra Maresca, Leonardo Caporali, Anna Farnedi, Christine Margaret Betts, Luca Morandi, Dario de Biase, Serenella Cerasoli, Maria Pia Foschini, Elena Bonora, Michele Vidone, Giovanni Romeo, Elena Perli, Carla Giordano, Giulia d'Amati, Giuseppe Gasparre, Agostino Baruzzi, Valerio Carelli, Vincenzo Eusebi
    Human Pathology, 2013
  • miRNAs expression analysis in paired fresh/Frozen and dissected formalin fixed and paraffin embedded glioblastoma using real-time PCR
    Dario de Biase, Michela Visani, Luca Morandi, Gianluca Marucci, Cristian Taccioli, Serenella Cerasoli, Agostino Baruzzi, Annalisa Pession, the PERNO Study group
    Plos One, 2012
  • Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways
    C. Evangelisti, F. Bianco, L. M. Pradella, A. Puliti, A. Goldoni, I. Sbrana, M. Rossi, M. Vargiolu, M. Seri, G. Romeo, V. Stanghellini, R. de Giorgio, E. Bonora
    Neurogastroenterology and Motility, 2012
  • DICER1 mutations in familial multinodular goiter with and without ovarian sertoli-leydig cell tumors
    Thomas Rio Frio
    JAMA, 2011
  • Genetic predisposition to familial nonmedullary thyroid cancer: An update of molecular findings and state-of-the-art studies
    Elena Bonora, Giovanni Tallini, Giovanni Romeo
    Journal of Oncology, 2010
  • Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis
    M. Vargiolu, T. Silvestri, E. Bonora, P. Dolzani, L. Pulsatelli, O. Addimanda, L. Mancarella, L. Punzi, A. Fioravanti, A. Facchini, G. Romeo, R. Meliconi
    Osteoarthritis and Cartilage, 2010
  • The RET51/FKBP52 complex and its involvement in Parkinson disease
    Daniela Fusco, Manuela Vargiolu, Michele Vidone, Elisa Mariani, Lucia Fiammetta Pennisi, Elena Bonora, Sabina Capellari, Dietmar Dirnberger, Ralf Baumeister, Paolo Martinelli, Giovanni Romeo
    Human Molecular Genetics, 2010
  • Molecular features of thyroid oncocytic tumors
    Giuseppe Gasparre, Elena Bonora, Giovanni Tallini, Giovanni Romeo
    Molecular and Cellular Endocrinology, 2010
  • The FAGenomicH project: Towards a whole candidate gene approach to identify markers associated with fatness and production traits in pigs and investigate the pig as a model for human obesity
    Italian Journal of Animal Science, 2009
  • An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells
    Giuseppe Gasparre, Luisa Iommarini, Anna Maria Porcelli, Martin Lang, Gian Gaetano Ferri, Ivana Kurelac, Roberta Zuntini, Elisa Mariani, Lucia Fiammetta Pennisi, Ernesto Pasquini, Gianandrea Pasquinelli, Anna Ghelli, Elena Bonora, Claudio Ceccarelli, Michela Rugolo, Nunzio Salfi, Giovanni Romeo, Valerio Carelli
    Human Mutation, 2009
  • The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability
    Manuela Vargiolu, Daniela Fusco, Ivana Kurelac, Dietmar Dirnberger, Ralf Baumeister, Isabella Morra, Antonio Melcarne, Roberto Rimondini, Giovanni Romeo, Elena Bonora
    Journal of Clinical Endocrinology and Metabolism, 2009
  • Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer
    A. Raitila, M. Georgitsi, E. Bonora, M. Vargiolu, K. Tuppurainen, M. J. Mäkinen, O. Vierimaa, P. I. Salmela, V. Launonen, P. Vahteristo, L. A. Aaltonen, G. Romeo, Auli Karhu
    Journal of Endocrinological Investigation, 2009
  • Enhanced sensitivity of the RET proto-oncogene to ionizing radiation in vitro
    Claudia Béu Volpato, Minerva Martínez-Alfaro, Raffaella Corvi, Coralie Gabus, Sylvie Sauvaigo, Pietro Ferrari, Elena Bonora, Alessandro De Grandi, Giovanni Romeo
    Cancer Research, 2008
  • Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma
    Giuseppe Gasparre, Eric Hervouet, Elodie de Laplanche, Jocelyne Demont, Lucia Fiammetta Pennisi, Marc Colombel, Florence Mège-Lechevallier, Jean-Yves Scoazec, Elena Bonora, Roel Smeets, Jan Smeitink, Vladimir Lazar, James Lespinasse, Sophie Giraud, Catherine Godinot, Giovanni Romeo, Hélène Simonnet
    Human Molecular Genetics, 2008
  • TOM: Enhancement and extension of a tool suite for in silico approaches to multigenic hereditary disorders
    Daniele Masotti, Christine Nardini, Simona Rossi, Elena Bonora, Giovanni Romeo, Stefano Volinia, Luca Benini
    Bioinformatics, 2008
  • C620R mutation of the murine ret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes
    Luo Yin, Aldamaria Puliti, Elena Bonora, Cecilia Evangelisti, Valerio Conti, Wei‐Min Tong, Jean‐Jacques Medard, Marie‐France Lavoué, Nathalie Forey, Lily C. Wang, Serge Manié, Gérard Morel, Mireille Raccurt, Zhao‐Qi Wang, Giovanni Romeo
    International Journal of Cancer, 2007
  • Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors
    Giuseppe Gasparre, Anna Maria Porcelli, Elena Bonora, Lucia Fiammetta Pennisi, Matteo Toller, Luisa Iommarini, Anna Ghelli, Massimo Moretti, Christine M. Betts, Giuseppe Nicola Martinelli, Alberto Rinaldi Ceroni, Francesco Curcio, Valerio Carelli, Michela Rugolo, Giovanni Tallini, Giovanni Romeo
    Proceedings of the National Academy of Sciences of the United States of America, 2007
  • Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas
    E Bonora, C Evangelisti, F Bonichon, G Tallini, G Romeo
    British Journal of Cancer, 2006
  • GSTT1 and M1 polymorphisms in Hürthle thyroid cancer patients
    Karmen Stankov, Stefano Landi, Lydie Gioia-Patricola, Elena Bonora, Marco Volante, Mauro Papotti, Giovanni Romeo
    Cancer Letters, 2006
  • TOM: A web-based integrated approach for identification of candidate disease genes
    S. Rossi, D. Masotti, C. Nardini, E. Bonora, G. Romeo, E. Macii, L. Benini, S. Volinia
    Nucleic Acids Research, 2006
  • Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III
    Elena Bonora, Anna Maria Porcelli, Giuseppe Gasparre, Annalisa Biondi, Anna Ghelli, Valerio Carelli, Alessandra Baracca, Giovanni Tallini, Andrea Martinuzzi, Giorgio Lenaz, Michela Rugolo, Giovanni Romeo
    Cancer Research, 2006
  • Genetic basis of autism
    Understanding Autism from Basic Neuroscience to Treatment, 2006
  • A Greek family with a follicular variant of familial papillary thyroid carcinoma: TCO, MNG1, fPTC/PRN, and NMTC1 excluded as susceptibility loci
    Tasoula Tsilchorozidou, Eleni Vafiadou, John G. Yovos, Giovani Romeo, James McKay, Fabienne Lesueur, Elena Bonora
    Thyroid, 2005
  • Analysis of IMGSAC autism susceptibility loci: Evidence for sex limited and parent of origin specific effects
    J A Lamb, G Barnby, E Bonora, N Sykes, E Bacchelli, F Blasi, E Maestrini, J Broxholme, J Tzenova, D Weeks, A J Bailey, A P Monaco
    Journal of Medical Genetics, 2005
  • Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
    and the International Molecular Genetic Study of Autism Consortium (IMGSAC), Elena Bonora, Janine A Lamb, Gabrielle Barnby, Nuala Sykes, Thomas Moberly, Kim S Beyer, Sabine M Klauck, Firtz Poustka, Elena Bacchelli, Francesca Blasi, Elena Maestrini, Agatino Battaglia, Demetrios Haracopos, Lennart Pedersen, Torben Isager, Gunna Eriksen, Birgitte Viskum, Ester-Ulsted Sorensen, Karen Brondum-Nielsen, Rodney Cotterill, Herman von Engeland, Maretha de Jonge, Chantal Kemner, Karlijn Steggehuis, Margret Scherpenisse, Michael Rutter, Patrick F Bolton, Jeremy R Parr, Annemarie Poustka, Anthony J Bailey, Anthony P Monaco
    European Journal of Human Genetics, 2005
  • Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
    Kay D. MacDermot, Elena Bonora, Nuala Sykes, Anne-Marie Coupe, Cecilia S.L. Lai, Sonja C. Vernes, Faraneh Vargha-Khadem, Fiona McKenzie, Robert L. Smith, Anthony P. Monaco, Simon E. Fisher
    American Journal of Human Genetics, 2005
  • Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
    E Bacchelli, F Blasi, M Biondolillo, J A Lamb, E Bonora, G Barnby, J Parr, K S Beyer, S M Klauck, A Poustka, A J Bailey, A P Monaco, E Maestrini, International Molecular Genetic Study of Autism Consortium (IMGSAC)
    Molecular Psychiatry, 2003
  • Analysis of reelin as a candidate gene for autism
    E Bonora, K S Beyer, J A Lamb, J R Parr, S M Klauck, A Benner, M Paolucci, A Abbott, I Ragoussis, A Poustka, A J Bailey, A P Monaco, and the International Molecular Genetic Study of Autism Consortium (IMGSAC)
    Molecular Psychiatry, 2003
  • Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
    E Bonora, E Bacchelli, E R Levy, F Blasi, A Marlow, A P Monaco, E Maestrini, and the International Molecular Genetic Study of Autism Consortium (IMGSAC)
    Molecular Psychiatry, 2002
  • FOXP2 is not a major susceptibility gene for autism or specific language impairment
    D.F. Newbury, E. Bonora, J.A. Lamb, S.E. Fisher, C.S.L. Lai, G. Baird, L. Jannoun, V. Slonims, C.M. Stott, M.J. Merricks, P.F. Bolton, A.J. Bailey, A.P. Monaco
    American Journal of Human Genetics, 2002
  • Preparation of highly purified momordin II without ribonuclease activity
    Paola Valbonesi, Luigi Barbieri, Andrea Bolognesi, Elena Bonora, Letizia Polito, Fiorenzo Stirpe
    Life Sciences, 1999
  • Polynucleotide:adenosine glycosidase activity of ribosome-inactivating proteins: Effect on DNA, RNA and poly(A)
    L Barbieri
    Nucleic Acids Research, 1997