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Institution · Ospedale Microcitemico

Most cited papers from Ospedale Microcitemico

What are the most cited papers from Ospedale Microcitemico?

The most cited paper from Ospedale Microcitemico is "Beta-thalassemia" (Renzo Galanello, Raffaella Origa, 2010), with 1,490 citations. Next come "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome" (991) and "Diagnosis and phenotypic classification of Wilson disease 1" (936).

Showing 50 of 61 papers. Every paper with more than 132 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Beta-thalassemia Renzo Galanello, Raffaella Origa · Orphanet Journal of Rare Diseases Open access 21 May 2010 1,490
2 The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome Laura Crisponi et al. · Nature Genetics Feb 2001 991
3 Diagnosis and phenotypic classification of Wilson disease 1 Péter Ferenci, Karel Caca, Georgios Loudianos et al. · Liver International 7 May 2003 936
4 Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant Torkel Vang, Mauro Congia, Maria Doloretta Macis et al. · Nature Genetics 6 Nov 2005 729
5 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia Manuela Uda et al. · Proceedings of the National Academy of Sciences Open access Feb 2008 682
6 Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines Kai E. Kisand et al. · The Journal of Experimental Medicine Open access Feb 2010 675
7 Beta-thalassemia Antonio Cao, Renzo Galanello · Genetics in Medicine Open access Feb 2010 668
8 Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein Christine Kim Garcia, Kenneth Robert Wilund, Marcello Arca et al. · Science 18 May 2001 626
9 Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians Giuseppe Pilia et al. · PLoS Genetics Open access 23 Aug 2006 568
10 β-Thalassemia Raffaella Origa · Genetics in Medicine Open access 3 Nov 2016 521
11 A Randomized, Placebo-Controlled, Double-Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Mark A. Tanner, Renzo Galanello, C. Dessì et al. · Circulation Open access 19 Mar 2007 483
12 Survival and Complications in Thalassemia Caterina Borgna‐Pignatti, Maria Domenica Cappellini, Piero De Stefano et al. · Annals of the New York Academy of Sciences Nov 2005 429
13 Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4 Bodo Grimbacher, Alejandro A. Schäffer, Steven M. Holland et al. · The American Journal of Human Genetics Open access Sep 1999 412
14 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics 7 May 2006 410
15 Foxl2 is required for commitment to ovary differentiation Chris Ottolenghi, Shakib Omari, José Elías García‐Ortíz et al. · Human Molecular Genetics Open access 8 Jun 2005 371
16 Liver iron concentrations and urinary hepcidin in -thalassemia Raffaella Origa, Renzo Galanello, Tomas Ganz et al. · Haematologica Open access May 2007 366
17 Role of PTPN22 in type 1 diabetes and other autoimmune diseases Nunzio Bottini, Torkel Vang, Francesco Cucca et al. · Seminars in Immunology 12 May 2006 354
18 Seventy-five genetic loci influencing the human red blood cell Pim van der Harst et al. · Nature Open access195 authors Dec 2012 336
19 A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia Maria Domenica Cappellini et al. · New England Journal of Medicine 25 Mar 2020 329
20 Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome Cristina Woellner et al. · Journal of Allergy and Clinical Immunology Open access Feb 2010 321
21 Recommendations for diagnosis and treatment of methemoglobinemia Achille Iolascon et al. · American Journal of Hematology Open access Sep 2021 248
22 Combined chelation therapy in thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction Mark A. Tanner, Renzo Galanello, Carlo Dessì et al. · Journal of Cardiovascular Magnetic Resonance Open access 2008 239
23 Juvenile Hemochromatosis Locus Maps to Chromosome 1q Antonella Roetto, Antonio Totaro, Mario Cazzola et al. · The American Journal of Human Genetics Open access May 1999 239
24 Relative response of patients with myelodysplastic syndromes and other transfusion‐dependent anaemias to deferasirox (ICL670): a 1‐yr prospective study John B. Porter et al. · European Journal Of Haematology Open access 20 Nov 2007 238
25 Imatinib for refractory chronic graft-versus-host disease with fibrotic features Attilio Olivieri, Franco Locatelli, Marco Zecca et al. · Blood 30 Apr 2009 235
26 Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia Sarah Marktel et al. · Nature Medicine 14 Jan 2019 229
27 Pregnancy in women with pre-existing lupus nephritis: predictors of fetal and maternal outcome Enrico Imbasciati, Anǵela Tincani, Gina Alessandra Gregorini et al. · Nephrology Dialysis Transplantation Open access 19 Jun 2008 226
28 The safety and effectiveness of deferiprone in a large‐scale, 3‐year study in Italian patients Adriana Ceci, Paola Baiardi, Mariagrazia Felisi et al. · British Journal of Haematology Open access Jul 2002 215
29 Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I Antonella Meloni et al. · The Journal of Clinical Endocrinology & Metabolism 26 Aug 2008 210
30 Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders Emanuele Angelucci, Giovanni Barosi, C. Camaschella et al. · Haematologica Open access 16 Apr 2008 202
31 Growth Hormone (GH) Deficiency (GHD) of Childhood Onset: Reassessment of GH Status and Evaluation of the Predictive Criteria for Permanent GHD in Young Adults Mohamad Maghnie, Carolina Strigazzi, Carmine Tinelli et al. · The Journal of Clinical Endocrinology & Metabolism Open access Apr 1999 201
32 Deferiprone versus Deferoxamine in Patients with Thalassemia Major: A Randomized Clinical Trial Aurelio Maggio, Gennaro D’Amico, Alberto Morabito et al. · Blood Cells Molecules and Diseases Mar 2002 192
33 A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron Maria Antonietta Melis, M. Cau, Rita Congiu et al. · Haematologica Open access 5 Jul 2008 189
34 Alpha-thalassemia Renzo Galanello, Antonio Cao · Genetics in Medicine Open access 6 Jan 2011 187
35 Autoimmune Polyendocrine Syndrome Type 1: An Extensive Longitudinal Study in Sardinian Patients Antonella Meloni, Nick Willcox, Anthony Meager et al. · The Journal of Clinical Endocrinology & Metabolism 17 Feb 2012 178
36 Hepatocellular carcinoma in the thalassaemia syndromes Caterina Borgna‐Pignatti, Gianluca Vergine, Turi Lombardo et al. · British Journal of Haematology 11 Dec 2003 176
37 Prolactinomas in Children and Adolescents. Clinical Presentation and Long-Term Follow-Up Annamaria Anita Livia Colao, Sandro Loche, Marco Cappa et al. · The Journal of Clinical Endocrinology & Metabolism Aug 1998 176
38 Safety, tolerability, and pharmacokinetics of ICL670, a new orally active iron-chelating agent in patients with transfusion-dependent iron overload due to beta-thalassemia. Renzo Galanello, Antonio Giulio Piga, Daniele Alberti et al. · PubMed Jun 2003 172
39 Cladribine and cytarabine in refractory multisystem Langerhans cell histiocytosis: results of an international phase 2 study Jean Donadieu, Frédéric Bernard, Max M. van Noesel et al. · Blood Open access 20 Jul 2015 172
40 The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies Andrea Mosca, Renata Paleari, Gilles Ivaldi et al. · Journal of Clinical Pathology 22 Dec 2008 171
41 Molecular characterization of Wilson disease in the Sardinian population?Evidence of a founder effect Georgios Loudianos, Valeria Dessì, Mario Lovicu et al. · Human Mutation Oct 1999 170
42 Myocardial Iron Loading in Patients with Thalassemia Major on Deferoxamine Chelation Mark A. Tanner, Renzo Galanello, C. Dessì et al. · Journal of Cardiovascular Magnetic Resonance 21 Jun 2006 166
43 Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis Marcello Arca, Giovanni Zuliani, Kenneth Robert Wilund et al. · The Lancet Mar 2002 164
44 The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life Stefano Romeo, Federica Sentinelli, Valentina Maria Cambuli et al. · Journal of Hepatology 28 Apr 2010 163
45 International reproducibility of single breathhold T2* MR for cardiac and liver iron assessment among five thalassemia centers Paul Kirk et al. · Journal of Magnetic Resonance Imaging Open access 22 Jul 2010 160
46 Screening for thalassemia Antonio Cao, Maria Cristina Rosatelli, Giovanni Monni et al. · Obstetrics and Gynecology Clinics of North America Jun 2002 152
47 Deferasirox, deferiprone and desferrioxamine treatment in thalassemia major patients: cardiac iron and function comparison determined by quantitative magnetic resonance imaging A. Pepe, Antonella Meloni, Marcello Capra et al. · Haematologica Open access 30 Sep 2010 149
48 Fungal Infections in Children With Cancer Elio Castagnola, Simone Cesaro, Mareva Giacchino et al. · The Pediatric Infectious Disease Journal 22 Jun 2006 149
49 The natural history of euthyroid Hashimoto’s thyroiditis in children Giorgio Radetti, Elena Gottardi, Gianni Bona et al. · The Journal of Pediatrics 30 Nov 2006 149
50 Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study Ali T. Taher, John B. Porter, Vip Viprakasit et al. · Blood Open access 16 May 2012 146

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.