| Genotype-phenotype relationships in ataxia-telangiectasia and variants S Gilad, L Chessa, R Khosravi, P Russell, Y Galanty, M Piane, RA Gatti, ... The American Journal of Human Genetics 62 (3), 551-561, 1998 | 285 | 1998 |
| MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder D Delia, M Piane, G Buscemi, C Savio, S Palmeri, P Lulli, L Carlessi, ... Human molecular genetics 13 (18), 2155-2163, 2004 | 137 | 2004 |
| Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study C Criscuolo, L Chessa, S Di Giandomenico, P Mancini, F Saccà, ... Neurology 66 (8), 1207-1210, 2006 | 134 | 2006 |
| Genetics of migraine and pharmacogenomics: some considerations M Piane, P Lulli, I Farinelli, S Simeoni, S De Filippis, FR Patacchioli, ... The journal of headache and pain 8, 334-339, 2007 | 88 | 2007 |
| The novel human gene aprataxin is directly involved in DNA single-strand-break repair P Mosesso, M Piane, F Palitti, G Pepe, S Penna, L Chessa Cellular and Molecular Life Sciences CMLS 62, 485-491, 2005 | 87 | 2005 |
| hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay SA Pitts, HS Kullar, T Stankovic, GS Stewart, JIK Last, T Bedenham, ... Human molecular genetics 10 (11), 1155-1162, 2001 | 84 | 2001 |
| Role of senataxin in DNA damage and telomeric stability A De Amicis, M Piane, F Ferrari, M Fanciulli, D Delia, L Chessa DNA repair 10 (2), 199-209, 2011 | 45 | 2011 |
| Different clinical and immunological presentation of ataxia-telangiectasia within the same family A Soresina, A Meini, V Lougaris, G Cattaneo, S Pellegrino, M Piane, ... Neuropediatrics 39 (01), 43-45, 2008 | 42 | 2008 |
| Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene M Piane, M Della Monica, G Piatelli, P Lulli, F Lonardo, L Chessa, ... American Journal of Medical Genetics Part A 149 (11), 2452-2456, 2009 | 39 | 2009 |
| Genotype-phenotype correlations in monogenic Parkinson disease: a review on clinical and molecular findings D Guadagnolo, M Piane, MR Torrisi, A Pizzuti, S Petrucci Frontiers in neurology 12, 648588, 2021 | 38 | 2021 |
| A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort S Rubattu, C Bozzao, E Pennacchini, E Pagannone, BM Musumeci, ... International Journal of Molecular Sciences 17 (8), 1239, 2016 | 33 | 2016 |
| Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International … SM Nielsen, DM Eccles, IL Romero, F Al-Mulla, J Balmaña, M Biancolella, ... JCO precision oncology 2, 1-42, 2018 | 30 | 2018 |
| p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes A Prodosmo, A De Amicis, C Nisticò, M Gabriele, G Di Rocco, ... The Journal of clinical investigation 123 (3), 1335-1342, 2013 | 28 | 2013 |
| Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families L Chessa, M Piane, M Magliozzi, I Torrente, C Savio, P Lulli, A De Luca, ... Annals of human genetics 73 (5), 532-539, 2009 | 20 | 2009 |
| DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations M Magliozzi, M Piane, I Torrente, L Sinibaldi, G Rizzo, C Savio, P Lulli, ... Disease markers 22 (4), 257-264, 2006 | 19 | 2006 |
| Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline A Germani, F Libi, S Maggi, G Stanzani, A Lombardi, P Pellegrini, ... Oncotarget 9 (72), 33648, 2018 | 18 | 2018 |
| Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays L Chessa, M Piane, S Prudente, C Carducci, MC Mazzilli, A Pachti, ... Prenatal diagnosis 19 (6), 542-545, 1999 | 18 | 1999 |
| Risk stratification in hypertrophic cardiomyopathy. insights from genetic analysis and cardiopulmonary exercise testing D Magrì, V Mastromarino, G Gallo, E Zachara, F Re, P Agostoni, ... Journal of clinical medicine 9 (6), 1636, 2020 | 17 | 2020 |
| Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review FR Grippaudo, M Piane, M Amoroso, B Longo, S Penco, L Chessa, ... Journal of Molecular Neuroscience 51, 442-445, 2013 | 17 | 2013 |
| Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia G Silvestri, M Masciullo, M Piane, C Savio, A Modoni, M Santoro, ... Journal of neurology 257, 1738-1740, 2010 | 15 | 2010 |
