Increased sensitivity of the neuronal nicotinic receptor α2 subunit causes familial epilepsy with nocturnal wandering and ictal fear P Aridon, C Marini, C Di Resta, E Brilli, M De Fusco, F Politi, E Parrini, ... The American Journal of Human Genetics 79 (2), 342-350, 2006 | 301 | 2006 |
Development, evaluation, and validation of machine learning models for COVID-19 detection based on routine blood tests F Cabitza, A Campagner, D Ferrari, C Di Resta, D Ceriotti, E Sabetta, ... Clinical Chemistry and Laboratory Medicine (CCLM) 59 (2), 421-431, 2021 | 202 | 2021 |
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities C Di Resta, S Galbiati, P Carrera, M Ferrari Ejifcc 29 (1), 4, 2018 | 195 | 2018 |
Brugada syndrome genetics is associated with phenotype severity G Ciconte, MM Monasky, V Santinelli, E Micaglio, G Vicedomini, ... European heart journal 42 (11), 1082-1090, 2021 | 101 | 2021 |
The gender impact assessment among healthcare workers in the SARS-CoV-2 vaccination—an analysis of serological response and side effects C Di Resta, D Ferrari, M Viganò, M Moro, E Sabetta, M Minerva, ... Vaccines 9 (5), 522, 2021 | 78 | 2021 |
A Brugada syndrome mutation (p. S216L) and its modulation by p. H558R polymorphism: standard and dynamic characterization S Marangoni, C Di Resta, M Rocchetti, L Barile, R Rizzetto, A Summa, ... Cardiovascular research 91 (4), 606-616, 2011 | 74 | 2011 |
Pharmacogenomics education in medical and pharmacy schools: conclusions of a global survey N Karas Kuželički, I Prodan Žitnik, D Gurwitz, A Llerena, I Cascorbi, ... Pharmacogenomics 20 (9), 643-657, 2019 | 70 | 2019 |
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification E Sommariva, C Pappone, F Martinelli Boneschi, C Di Resta, ... European Journal of Human Genetics 21 (9), 911-917, 2013 | 70 | 2013 |
Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study P Carrera, C Di Resta, C Volonteri, E Castiglioni, S Bonfiglio, D Lazarevic, ... Clinica chimica acta 451, 39-45, 2015 | 60 | 2015 |
Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease G Peretto, S Sala, S Benedetti, C Di Resta, L Gigli, M Ferrari, P Della Bella Nucleus 9 (1), 380-391, 2018 | 52 | 2018 |
Next generation sequencing: from research area to clinical practice C Di Resta, M Ferrari Ejifcc 29 (3), 215, 2018 | 47 | 2018 |
Personalized laboratory medicine: a patient-centered future approach I Prodan Žitnik, D Černe, I Mancini, L Simi, M Pazzagli, C Di Resta, ... Clinical Chemistry and Laboratory Medicine (CCLM) 56 (12), 1981-1991, 2018 | 45 | 2018 |
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy G Peretto, C Di Resta, J Perversi, C Forleo, L Maggi, L Politano, A Barison, ... Annals of Internal Medicine 171 (7), 458-463, 2019 | 43 | 2019 |
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation F Longo, S Benedetti, AA Zambon, MGN Sora, C Di Resta, D De Ritis, ... Human Molecular Genetics 29 (2), 177-188, 2020 | 42 | 2020 |
High-throughput genetic characterization of a cohort of Brugada syndrome patients C Di Resta, A Pietrelli, S Sala, P Della Bella, G De Bellis, M Ferrari, ... Human molecular genetics 24 (20), 5828-5835, 2015 | 41 | 2015 |
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome F Banfi, A Rubio, M Zaghi, L Massimino, G Fagnocchi, E Bellini, M Luoni, ... Nature communications 12 (1), 4050, 2021 | 38 | 2021 |
Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy C Di Resta, P Ambrosi, G Curia, A Becchetti European journal of pharmacology 643 (1), 13-20, 2010 | 38 | 2010 |
Introduction to ion channels C Di Resta, A Becchetti Integrins and Ion Channels: Molecular Complexes and Signaling, 9-21, 2010 | 36 | 2010 |
Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study G Peretto, A Barison, C Forleo, C Di Resta, A Esposito, GD Aquaro, ... EP Europace 22 (12), 1864-1872, 2020 | 33 | 2020 |
Antibody titer kinetics and SARS-CoV-2 infections six months after administration with the BNT162b2 vaccine D Ferrari, N Clementi, E Criscuolo, A Ambrosi, F Corea, C Di Resta, ... Vaccines 9 (11), 1357, 2021 | 32 | 2021 |