Chiara Di Resta
机构: Università Vita-Salute San Raffaele
每年引用次数
引用次数
引用: 2,026
H-指数: 24
I10-指数 : 43
出版物: 101
Personalized laboratory medicine: Results of an european survey conducted by the EFLM/ESPT WG-PLM
I. Brandslund , F. Malentacchi , E. Theodorsson , P. Vermeersch
Clinical Chemistry and Laboratory Medicine 53
2015
Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease.
G. Peretto , S. Sala , S. Benedetti , C. Di Resta
Nucleus 9 ( 1) 380 -391
15
2018
4792Late gadolinium enhancement and arrhythmic risk prediction in patients with LMNA-related cardiomyopathy: results from a long-term follow-up multicenter study
G. Peretto , C. Forleo , A. Barison , S. Sala
European Heart Journal 38
2017
Clinical and genetic study of a new familial epilepsy with nocturnal wandering and ictal fear. report of the first evidence for chrna2 mutation in human epilepsy
P Aridon , C Marini , M DE FUSCO , C DI RESTA
2006
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.
Silvia Galbiati , Chiara Di Resta , Paola Carrera , Maurizio Ferrari
EJIFCC 29 ( 1) 4 -14
45
2018
Next Generation Sequencing: From Research Area to Clinical Practice.
Chiara Di Resta , Maurizio Ferrari
EJIFCC 29 ( 3) 215 -220
20
2018
Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.
Stefania Merella , Maria Pia Manitto , Silvia Presi , Giuseppe Querques
EJIFCC 29 ( 1) 15 -25
4
2018
Evidence of significant difference in key COVID-19 biomarkers during the Italian lockdown strategy. A retrospective study on patients admitted to a hospital emergency department in Northern Italy.
Federico Cabitza , Chiara Di Resta , Anna Carobene , Davide Ferrari
Acta bio-medica : Atenei Parmensis 91 ( 4) 1 -9
2020
The Gender Impact Assessment among Healthcare Workers in the SARS-CoV-2 Vaccination—An Analysis of Serological Response and Side Effects
Chiara Di Resta , Davide Ferrari , Marco Viganò , Matteo Moro
Vaccine 9 ( 5) 522
2021
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy
Giovanni Peretto , Federica Barzaghi , Maria Pia Cicalese , Chiara Di Resta
Pacing and Clinical Electrophysiology 44 ( 3) 552 -556
2021
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.
Chiara Di Resta , Martina Manzoni , Massimo Zoni Berisso , Gabriele Siciliano
Clinica Chimica Acta 436 276 -282
4
2014
Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy.
Chiara Di Resta , Paola Ambrosi , Giulia Curia , Andrea Becchetti
European Journal of Pharmacology 643 ( 1) 13 -20
22
2010
Implementation of a companion diagnostic in the clinical laboratory: The BRAF example in melanoma
Pieter Vermeersch , Chiara Di Resta , Matthias Schwab , Janja Marc
Clinica Chimica Acta 439 128 -136
4
2015
Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study
Paola Carrera , Chiara Di Resta , Chiara Volonteri , Emanuela Castiglioni
Clinica Chimica Acta 451 39 -45
36
2015
Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients
Silvia Galbiati , Francesco Damin , Valentina Burgio , Angela Brisci
Clinica Chimica Acta 489 136 -143
9
2019
SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis.
Emanuele Micaglio , Michelle M. Monasky , Giuseppe Ciconte , Gabriele Vicedomini
Frontiers in Genetics 10 50 -50
5
2019
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.
Daniela Rossi , Lorenzo Gigli , Alessandra Gamberucci , Roberta Bordoni
Heart Rhythm 17 ( 2) 296 -304
3
2020
A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization
Stefano Marangoni , Chiara Di Resta , Marcella Rocchetti , Lucio Barile
Cardiovascular Research 91 ( 4) 606 -616
36
2011
Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study.
Giovanni Peretto , Andrea Barison , Cinzia Forleo , Chiara Di Resta
Europace 22 ( 12) 1864 -1872
3
2020
Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear
Paolo Aridon , Carla Marini , Chiara Di Resta , Elisa Brilli
American Journal of Human Genetics 79 ( 2) 342 -350
198
2006