Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy I Olivotto, F Girolami, MJ Ackerman, S Nistri, JM Bos, E Zachara, ... Mayo Clinic Proceedings 83 (6), 630-638, 2008 | 436 | 2008 |
Cytogenetic effects on human lymphocytes of a mixture of fifteen pesticides commonly used in Italy P Dolara, F Torricelli, N Antonelli Mutation Research Letters 325 (1), 47-51, 1994 | 369 | 1994 |
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations F Girolami, CY Ho, C Semsarian, M Baldi, ML Will, K Baldini, F Torricelli, ... Journal of the American College of Cardiology 55 (14), 1444-1453, 2010 | 343 | 2010 |
Relevance of coronary microvascular flow impairment to long-term remodeling and systolic dysfunction in hypertrophic cardiomyopathy I Olivotto, F Cecchi, R Gistri, R Lorenzoni, G Chiriatti, F Girolami, ... Journal of the American College of Cardiology 47 (5), 1043-1048, 2006 | 253 | 2006 |
Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications RAMS Casano, DF Johnson, Y Bykhovskaya, F Torricelli, M Bigozzi, ... American journal of otolaryngology 20 (3), 151-156, 1999 | 201 | 1999 |
Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript M Benelli, C Pescucci, G Marseglia, M Severgnini, F Torricelli, A Magi Bioinformatics 28 (24), 3232-3239, 2012 | 191 | 2012 |
Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations I Olivotto, F Girolami, R Sciagrà, MJ Ackerman, B Sotgia, JM Bos, S Nistri, ... Journal of the American College of Cardiology 58 (8), 839-848, 2011 | 185 | 2011 |
Th2‐oriented profile of male offspring T cells present in women with systemic sclerosis and reactive with maternal major histocompatibility complex antigens C Scaletti, A Vultaggio, S Bonifacio, L Emmi, F Torricelli, E Maggi, ... Arthritis & Rheumatism 46 (2), 445-450, 2002 | 165 | 2002 |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations R Coppini, CY Ho, E Ashley, S Day, C Ferrantini, F Girolami, B Tomberli, ... Journal of the American College of Cardiology 64 (24), 2589-2600, 2014 | 155 | 2014 |
Use of donor bone marrow mesenchymal stem cells for treatment of skin allograft rejection in a preclinical rat model P Sbano, A Cuccia, B Mazzanti, S Urbani, B Giusti, I Lapini, L Rossi, ... Archives of Dermatological Research 300, 115-124, 2008 | 137 | 2008 |
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype M Margaglione, G Castaman, M Morfini, A Rocino, E Santagostino, ... haematologica 93 (5), 722-728, 2008 | 135 | 2008 |
Bioinformatics for next generation sequencing data A Magi, M Benelli, A Gozzini, F Girolami, F Torricelli, ML Brandi Genes 1 (2), 294-307, 2010 | 125 | 2010 |
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B S Bione, F Rizzolio, C Sala, R Ricotti, M Goegan, MC Manzini, R Battaglia, ... Human reproduction 19 (12), 2759-2766, 2004 | 123 | 2004 |
Hearing loss due to the mitochondrial A1555G mutation in Italian families RAMS Casano, Y Bykhovskaya, DF Johnson, M Hamon, F Torricelli, ... American journal of medical genetics 79 (5), 388-391, 1998 | 113 | 1998 |
Read count approach for DNA copy number variants detection A Magi, L Tattini, T Pippucci, F Torricelli, M Benelli Bioinformatics 28 (4), 470-478, 2012 | 109 | 2012 |
Identification of hematopoietic progenitor cells in human amniotic fluid before the 12th week of gestation. F Torricelli, L Brizzi, PA Bernabei, G Gheri, S Di Lollo, L Nutini, E Lisi, ... Italian journal of anatomy and embryology= Archivio italiano di anatomia ed …, 1993 | 105 | 1993 |
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes … C Férec, T Casals, N Chuzhanova, M Macek, T Bienvenu, A Holubova, ... European journal of human genetics 14 (5), 567-576, 2006 | 103 | 2006 |
De novo balanced chromosome rearrangements in prenatal diagnosis D Giardino, C Corti, L Ballarati, D Colombo, E Sala, N Villa, G Piombo, ... Prenatal diagnosis 29 (3), 257-265, 2009 | 98 | 2009 |
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study F Girolami, M Iascone, B Tomberli, S Bardi, M Benelli, G Marseglia, ... Circulation: Cardiovascular Genetics 7 (6), 741-750, 2014 | 95 | 2014 |
Spectrum of UGT1A1 mutations in Crigler‐Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype‐phenotype correlation V Servedio, M d'Apolito, N Maiorano, B Minuti, F Torricelli, F Ronchi, ... Human mutation 25 (3), 325-325, 2005 | 92 | 2005 |