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E. Bonora · SciRah

Researcher profile · Semantic Scholar

E. Bonora

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E. Bonora — researcher profile on SciRah

h-index: 37
Works: 130
Citations: 5,101

Most-cited papers

DICER1 mutations in Familial Multi-Nodular Goiter with and without Ovarian Sertoli-Leydig Cell Tumors
T. R. Frio, A. Bahubeshi, Chryssa Kanellopoulou, N. Hamel +21 more
2011Journal of the American Medical Association (JAMA)315 citations Open access
Semantic Scholar
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Alberto Magi, Lorenzo Tattini, I. Cifola, R. D’Aurizio +13 more
2013Genome Biology241 citations Open access
Semantic Scholar
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations.
J. van Os, B. Rutten, I. Myin-Germeys, P. Delespaul +183 more
2014Schizophrenia bulletin238 citations Open access
Semantic Scholar
Protective Actions of Epithelial 5-hydroxytryptamine 4 Receptors in Normal and Inflamed Colon
Stephanie N. Spohn, F. Bianco, R. Scott, C. Keenan +10 more
2016Gastroenterology117 citations Open access
Semantic Scholar
Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies
Bianca De Nicolo, Erica Cataldi-Stagetti, Chiara Diquigiovanni, E. Bonora
2023Antioxidants97 citations Open access
Semantic Scholar
Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia
A. Pardiñas, S. Smart, I. Willcocks, P. Holmans +66 more
2022JAMA psychiatry95 citations Open access
Semantic Scholar
Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies
E. Bonora, G. Tallini, G. Romeo
2010Journal of Oncology75 citations Open access
Semantic Scholar
Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction
E. Bonora, F. Bianco, L. Cordeddu, M. Bamshad +22 more
2015Gastroenterology73 citations Open access
Semantic Scholar
Expression of the Bitter Taste Receptor, T2R38, in Enteroendocrine Cells of the Colonic Mucosa of Overweight/Obese vs. Lean Subjects
R. Latorre, Jennifer Huynh, M. Mazzoni, Arpana Gupta +6 more
2016PLoS ONE62 citations Open access
Semantic Scholar
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
L. Jolly, L. Nguyen, Deepti Domingo, Ying Sun +11 more
2015Human Molecular Genetics61 citations Open access
Semantic Scholar
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
E. Bonora, C. Graziano, Fiorella Minopoli, E. Bacchelli +17 more
2014EMBO Molecular Medicine54 citations Open access
Semantic Scholar
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder
E. Bacchelli, F. Ceroni, D. Pinto, Silvia Lomartire +7 more
2014Journal of Neurodevelopmental Disorders48 citations Open access
Semantic Scholar
Molecular features of thyroid oncocytic tumors.
G. Gasparre, E. Bonora, G. Tallini, G. Romeo
2010Molecular and Cellular Endocrinology48 citations
Semantic Scholar
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer
Chiara Diquigiovanni, C. Bergamini, C. Evangelisti, F. Isidori +18 more
2018International Journal of Cancer44 citations Open access
Semantic Scholar
Prucalopride exerts neuroprotection in human enteric neurons.
F. Bianco, E. Bonora, D. Natarajan, M. Vargiolu +12 more
2016American Journal of Physiology - Gastrointestinal and Liver Physiology44 citations Open access
Semantic Scholar
The FOXE1 locus is a major genetic determinant for familial nonmedullary thyroid carcinoma
E. Bonora, C. Rizzato, Chiara Diquigiovanni, Tiphaine Oudot-Mellakh +7 more
2014International Journal of Cancer44 citations
Semantic Scholar
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
E. Bonora, Sanjiban Chakrabarty, Georgios Kellaris, M. Tsutsumi +63 more
2021Brain : a journal of neurology40 citations Open access
Semantic Scholar
A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors
C. Evangelisti, D. de Biase, I. Kurelac, C. Ceccarelli +8 more
2015BMC Cancer39 citations Open access
Semantic Scholar
Omics Technologies Improving Breast Cancer Research and Diagnostics
A. Orsini, Chiara Diquigiovanni, E. Bonora
2023International Journal of Molecular Sciences38 citations Open access
Semantic Scholar
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer
Aayushi Srivastava, Beiping Miao, Diamanto Skopelitou, Varun Kumar +6 more
2020Cancers38 citations Open access
Semantic Scholar
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family
Abhishek Kumar, O. Bandapalli, N. Paramasivam, S. Giangiobbe +6 more
2018Scientific Reports36 citations Open access
Semantic Scholar
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients
M. Ciavarella, S. Miccoli, Anna Prossomariti, T. Pippucci +10 more
2018European Journal of Human Genetics34 citations Open access
Semantic Scholar
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?
A. Brandes, E. Franceschi, M. Ermani, A. Tosoni +159 more
2014Neuro-Oncology Practice34 citations Open access
Semantic Scholar
Mast cell‐nerve interactions correlate with bloating and abdominal pain severity in patients with non‐celiac gluten / wheat sensitivity
F. Giancola, U. Volta, R. Repossi, R. Latorre +13 more
2020Neurogastroenterology and Motility31 citations
Semantic Scholar
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
E. Bacchelli, Eleonora Loi, Cinzia Cameli, L. Moi +10 more
2019Journal of Clinical Medicine30 citations Open access
Semantic Scholar
Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways
Aayushi Srivastava, Abhishek Kumar, S. Giangiobbe, E. Bonora +3 more
2019Biomolecules30 citations Open access
Semantic Scholar
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
C. Graziano, A. Wischmeijer, T. Pippucci, C. Fusco +13 more
2015Gene30 citations
Semantic Scholar
Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis.
Manuela Vargiolu, Tania Silvestri, E. Bonora, P. Dolzani +8 more
2010Osteoarthritis and Cartilage27 citations Open access
Semantic Scholar
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, L. Alameda, D. Quattrone, G. Tripoli +32 more
2022Psychological Medicine26 citations Open access
Semantic Scholar
Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction
F. Bianco, G. Lattanzio, L. Lorenzini, M. Mazzoni +7 more
2022Biomolecules22 citations Open access
Semantic Scholar
The RET51/FKBP52 complex and its involvement in Parkinson disease.
Daniel Fusco, M. Vargiolu, Michele Vidone, E. Mariani +7 more
2010Human Molecular Genetics22 citations
Semantic Scholar
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
D. Quattrone, U. Reininghaus, A. Richards, G. Tripoli +89 more
2021Translational Psychiatry21 citations Open access
Semantic Scholar
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting
F. Viti, R. De Giorgio, I. Ceccherini, A. Ahluwalia +26 more
2023Digestive Diseases and Sciences20 citations Open access
Semantic Scholar
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number.
G. Marucci, A. Maresca, L. Caporali, A. Farnedi +15 more
2013Human Pathology20 citations
Semantic Scholar
Enteric neuron density correlates with clinical features of severe gut dysmotility.
E. Boschetti, C. Malagelada, A. Accarino, J. Malagelada +11 more
2019American Journal of Physiology - Gastrointestinal and Liver Physiology19 citations Open access
Semantic Scholar
Enteric neuropathies: Yesterday, Today and Tomorrow.
R. De Giorgio, F. Bianco, R. Latorre, Giacomo Caio +2 more
2016Advances in Experimental Medicine and Biology19 citations Open access
Semantic Scholar
Neuroactive Steroids in First-Episode Psychosis: A Role for Progesterone?
Martino Belvederi Murri, F. Fanelli, U. Pagotto, E. Bonora +9 more
2016Schizophrenia Research and Treatment18 citations Open access
Semantic Scholar
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer
Aayushi Srivastava, S. Giangiobbe, Diamanto Skopelitou, Beiping Miao +6 more
2021Frontiers in Endocrinology17 citations Open access
Semantic Scholar
The Prognostic Impact of Histology in Esophageal and Esophago-Gastric Junction Adenocarcinoma
R. Fiocca, L. Mastracci, M. Lugaresi, F. Grillo +15 more
2021Cancers17 citations Open access
Semantic Scholar
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
R. Zuntini, S. Ferrari, E. Bonora, Francesco Buscherini +5 more
2018Frontiers in Genetics16 citations Open access
Semantic Scholar
Genetics of Familial Non-Medullary Thyroid Carcinoma (FNMTC)
Chiara Diquigiovanni, E. Bonora
2021Cancers15 citations Open access
Semantic Scholar
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, C. Bergamini, R. Diaz, Irene Liparulo +14 more
2019The FASEB Journal15 citations
Semantic Scholar
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
N. Hirsch, Idit Dahan, E. D'Haene, Matan Avni +12 more
2021bioRxiv14 citations Open access
Semantic Scholar
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
R. Zuntini, E. Bonora, L. Pradella, Laura Benedetta Amato +10 more
2021International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis
G. Innella, E. Bonora, I. Neri, A. Virdi +9 more
2021Frontiers in Medicine11 citations Open access
Semantic Scholar
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
T. Sagna, E. Bonora, Marie N. L. Ouedraogo, Daniel Fusco +13 more
2019Biomolecular Concepts11 citations Open access
Semantic Scholar
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
E. Bonora, C. Graziano, Fiorella Minopoli, E. Bacchelli +17 more
2014EMBO Molecular Medicine10 citations Open access
Semantic Scholar
Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
F. Bianco, G. Lattanzio, L. Lorenzini, Chiara Diquigiovanni +7 more
2021European Journal of Histochemistry9 citations Open access
Semantic Scholar
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations
F. Isidori, Isotta Bozzarelli, L. Mastracci, D. Malvi +10 more
2020Clinical and Translational Gastroenterology9 citations Open access
Semantic Scholar
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q
Chiara Diquigiovanni, N. Rizzardi, A. Kampmeier, Irene Liparulo +14 more
2023Open Biology8 citations Open access
Semantic Scholar

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