Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits KD MacDermot, E Bonora, N Sykes, AM Coupe, CSL Lai, SC Vernes, ... The American Journal of Human Genetics 76 (6), 1074-1080, 2005 | 587 | 2005 |
Polynucleotide: adenosine glycosidase activity of ribosome-inactivating proteins: effect on DNA, RNA and poly (A) L Barbieri, P Valbonesi, E Bonora, P Gorini, A Bolognesi, F Stirpe Nucleic acids research 25 (3), 518-522, 1997 | 393 | 1997 |
FOXP2 is not a major susceptibility gene for autism or specific language impairment DF Newbury, E Bonora, JA Lamb, SE Fisher, CSL Lai, G Baird, L Jannoun, ... The American Journal of Human Genetics 70 (5), 1318-1327, 2002 | 376 | 2002 |
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors TR Frio, A Bahubeshi, C Kanellopoulou, N Hamel, M Niedziela, ... Jama 305 (1), 68-77, 2011 | 351 | 2011 |
Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors G Gasparre, AM Porcelli, E Bonora, LF Pennisi, M Toller, L Iommarini, ... Proceedings of the National Academy of Sciences 104 (21), 9001-9006, 2007 | 329 | 2007 |
EXCAVATOR: detecting copy number variants from whole-exome sequencing data A Magi, L Tattini, I Cifola, R D’Aurizio, M Benelli, E Mangano, C Battaglia, ... Genome biology 14, 1-18, 2013 | 257 | 2013 |
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III E Bonora, AM Porcelli, G Gasparre, A Biondi, A Ghelli, V Carelli, ... Cancer research 66 (12), 6087-6096, 2006 | 246 | 2006 |
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma G Gasparre, E Hervouet, E de Laplanche, J Demont, LF Pennisi, ... Human molecular genetics 17 (7), 986-995, 2008 | 170 | 2008 |
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects JA Lamb, G Barnby, E Bonora, N Sykes, E Bacchelli, F Blasi, E Maestrini, ... Journal of Medical Genetics 42 (2), 132-137, 2005 | 157 | 2005 |
Analysis of reelin as a candidate gene for autism E Bonora, KS Beyer, JA Lamb, JR Parr, SM Klauck, A Benner, M Paolucci, ... Molecular psychiatry 8 (10), 885-892, 2003 | 156 | 2003 |
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, JA Lamb, E Bonora, G Barnby, J Parr, ... Molecular psychiatry 8 (11), 916-924, 2003 | 126 | 2003 |
Protective actions of epithelial 5-hydroxytryptamine 4 receptors in normal and inflamed colon SN Spohn, F Bianco, RB Scott, CM Keenan, AA Linton, CH O'Neill, ... Gastroenterology 151 (5), 933-944. e3, 2016 | 117 | 2016 |
Genetic predisposition to familial nonmedullary thyroid cancer: an update of molecular findings and state‐of‐the‐art studies E Bonora, G Tallini, G Romeo Journal of oncology 2010 (1), 385206, 2010 | 100 | 2010 |
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction E Bonora, F Bianco, L Cordeddu, M Bamshad, L Francescatto, D Dowless, ... Gastroenterology 148 (4), 771-782. e11, 2015 | 93 | 2015 |
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q E Bonora, JA Lamb, G Barnby, N Sykes, T Moberly, KS Beyer, SM Klauck, ... European Journal of Human Genetics 13 (2), 198-207, 2005 | 87 | 2005 |
The Tyrosine Kinase Receptor RET Interacts in Vivo with Aryl Hydrocarbon Receptor-Interacting Protein to Alter Survivin Availability M Vargiolu, D Fusco, I Kurelac, D Dirnberger, R Baumeister, I Morra, ... The Journal of Clinical Endocrinology & Metabolism 94 (7), 2571-2578, 2009 | 83 | 2009 |
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, ... Nucleic acids research 34 (suppl_2), W285-W292, 2006 | 83 | 2006 |
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 95 (11), 1529-1536, 2006 | 79 | 2006 |
Interaction testing and polygenic risk scoring to estimate the association of common genetic variants with treatment resistance in schizophrenia AF Pardiñas, SE Smart, IR Willcocks, PA Holmans, CA Dennison, ... JAMA psychiatry 79 (3), 260-269, 2022 | 69 | 2022 |
Expression of the bitter taste receptor, T2R38, in enteroendocrine cells of the colonic mucosa of overweight/obese vs. lean subjects R Latorre, J Huynh, M Mazzoni, A Gupta, E Bonora, P Clavenzani, ... PLoS One 11 (2), e0147468, 2016 | 69 | 2016 |