| Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 RA Ophoff, GM Terwindt, MN Vergouwe, R van Eijk, PJ Oefner, ... Cell 87 (3), 543-552, 1996 | 2904 | 1996 |
| Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy G Simoni, B Brambati, C Danesino, F Rossella, GL Terzoli, M Ferrari, ... Human Genetics 63, 349-357, 1983 | 689 | 1983 |
| Loss of mismatched HLA in leukemia after stem-cell transplantation L Vago, SK Perna, M Zanussi, B Mazzi, C Barlassina, MTL Stanghellini, ... New England Journal of Medicine 361 (5), 478-488, 2009 | 540 | 2009 |
| Timing of surgery following SARS‐CoV‐2 infection: an international prospective cohort study H Gacaferi, GS Collaborative, COVIDSurg Collaborative Anaesthesia 76 (6), 2021 | 532* | 2021 |
| The origin of the major cystic fibrosis mutation (ΔF508) in European populations N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ... Nature genetics 7 (2), 169-175, 1994 | 462 | 1994 |
| Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders D Pietra, S Li, A Brisci, F Passamonti, E Rumi, A Theocharides, M Ferrari, ... Blood, The Journal of the American Society of Hematology 111 (3), 1686-1689, 2008 | 416 | 2008 |
| The Δccr5 Mutation Conferring Protection Against HIV-1 in Caucasian Populations Has a Single and Recent Origin in Northeastern Europe F Libert, P Cochaux, G Beckman, M Samson, M Aksenova, A Cao, ... Human molecular genetics 7 (3), 399-406, 1998 | 374 | 1998 |
| Identification of protein tyrosine phosphatase-like IA2 (islet cell antigen 512) as the insulin-dependent diabetes-related 37/40K autoantigen and a target of islet-cell antibodies. E Bonifacio, V Lampasona, S Genovese, M Ferrari, E Bosi Journal of immunology (Baltimore, Md.: 1950) 155 (11), 5419-5426, 1995 | 346 | 1995 |
| Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia L Malcovati, E Papaemmanuil, I Ambaglio, C Elena, A Gallì, ... Blood, The Journal of the American Society of Hematology 124 (9), 1513-1521, 2014 | 281 | 2014 |
| A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia S Battistini, S Stenirri, M Piatti, C Gelfi, PG Righetti, R Rocchi, F Giannini, ... Neurology 53 (1), 38-38, 1999 | 240 | 1999 |
| Analysis of risk factors for the development of liver disease associated with cystic fibrosis C Colombo, MG Apostolo, M Ferrari, M Seia, S Genoni, A Giunta, ... The Journal of pediatrics 124 (3), 393-399, 1994 | 235 | 1994 |
| Effect of COVID-19 pandemic lockdowns on planned cancer surgery for 15 tumour types in 61 countries: an international, prospective, cohort study J Glasbey, A Ademuyiwa, A Adisa, E AlAmeer, AP Arnaud, F Ayasra, ... The Lancet Oncology 22 (11), 1507-1517, 2021 | 233 | 2021 |
| Molecular, serological, and biochemical diagnosis and monitoring of COVID-19: IFCC taskforce evaluation of the latest evidence MK Bohn, G Lippi, A Horvath, S Sethi, D Koch, M Ferrari, CB Wang, ... Clinical Chemistry and Laboratory Medicine (CCLM) 58 (7), 1037-1052, 2020 | 215 | 2020 |
| 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 | 168 | 2018 |
| Phenotypic clustering of lamin A/C mutations in neuromuscular patients S Benedetti, I Menditto, M Degano, C Rodolico, L Merlini, A D’Amico, ... Neurology 69 (12), 1285-1292, 2007 | 162 | 2007 |
| Involvement of the HLXB9 homeobox gene in Currarino syndrome E Belloni, G Martucciello, D Verderio, E Ponti, M Seri, V Jasonni, M Torre, ... The American Journal of Human Genetics 66 (1), 312-319, 2000 | 161 | 2000 |
| Double-gradient DGGE for optimized detection of DNA point mutations L Cremonesi, S Firpo, M Ferrari, PG Righetti, C Gelfi Biotechniques 22 (2), 326-330, 1997 | 149 | 1997 |
| Sensitivity and specificity of body mass index and skinfold thicknesses in detecting excess adiposity in children aged 8-12 years G Bedogni, L Iughetti, M Ferrari, M Malavolti, M Poli, S Bernasconi, ... Annals of human biology 30 (2), 132-139, 2003 | 144 | 2003 |
| Fetal DNA detection in maternal plasma throughout gestation S Galbiati, M Smid, D Gambini, A Ferrari, G Restagno, E Viora, ... Human genetics 117, 243-248, 2005 | 136 | 2005 |
| Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) M Cazzola, L Cremonesi, M Papaioannou, N Soriani, A Kioumi, ... British journal of haematology 119 (2), 539-546, 2002 | 136 | 2002 |
