Department of Biology and Genetics for Medical Sciences

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#	Title	Journal	Year	Citations
1	Purinergic Control of T Cell Activation by ATP Released Through Pannexin-1 Hemichannels	Science Signaling	2008	357
2	A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy	Cell	2012	341
3	Rare coagulation deficiencies	Haemophilia	2002	215
4	Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation	Human Reproduction	2006	162
5	The molecular basis of quantitative fibrinogen disorders	Journal of Thrombosis and Haemostasis	2006	147
6	Association between idiopathic premature ovarian failure and fragile X premutation	Human Reproduction	2000	144
7	Alternative Splicing of the Histone Demethylase LSD1/KDM1 Contributes to the Modulation of Neurite Morphogenesis in the Mammalian Nervous System	Journal of Neuroscience	2010	138
8	BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein	Human Mutation	2009	126
9	KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication	Haematologica	2004	126
10	Genetic diagnosis of haemophilia and other inherited bleeding disorders	Haemophilia	2006	123
11	Factor V Deficiency	Seminars in Thrombosis and Hemostasis	2009	114
12	Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion	Blood	2000	104
13	Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure	Human Genetics	2000	103
14	Shc signaling in differentiating neural progenitor cells	Nature Neuroscience	2001	103
15	Premature ovarian failure	Molecular and Cellular Endocrinology	2000	87
16	The Role of miR-103 and miR-107 in Regulation of CDK5R1 Expression and in Cellular Migration	PLoS ONE	2011	86
17	Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation	BMC Biology	2009	81
18	PTEN/MMAC1 mutations in primary glioblastomas and short-term cultures of malignant gliomas	Oncogene	1998	79
19	Inherited defects of coagulation factor V: the hemorrhagic side	Journal of Thrombosis and Haemostasis	2006	79
20	The Kasumi-1 cell line: a t(8;21)-kit mutant model for acute myeloid leukemia	Leukemia and Lymphoma	2005	75
21	Factor XI Deficiency	Seminars in Thrombosis and Hemostasis	2009	70
22	Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs	Blood	2001	68
23	Different simian virus 40 genomic regions and sequences homologous with SV40 large T antigen in DNA of human brain and bone tumors and of leukocytes from blood donors	Cancer	2002	65
24	Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene	Annals of Neurology	2005	59
25	Activation of NF-κB by IL-1β blocks IL-6-induced sustained STAT3 activation and STAT3-dependent gene expression of the human γ-fibrinogen gene	Cellular Signalling	2007	50
26	Coagulation factor V	International Journal of Biochemistry and Cell Biology	2004	49
27	Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein	Blood	2003	41
28	Barth syndrome associated with compound hemizygosity and heterozygosity of theTAZ andLDB3 genes	American Journal of Medical Genetics, Part A	2007	41
29	Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation	Blood	2000	40
30	The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy	European Journal of Human Genetics	2001	40
31	Imatinib mesylate in the treatment of Core Binding Factor leukemias with KIT mutations	Leukemia Research	2005	40
32	CoREST Represses the Heat Shock Response Mediated by HSF1	Molecular Cell	2008	39
33	Expression Profiling of FSHD-1 and FSHD-2 Cells during Myogenic Differentiation Evidences Common and Distinctive Gene Dysregulation Patterns	PLoS ONE	2011	39
34	Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations	Blood	2003	38
35	Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bβ-chain gene causing activation of cryptic splice sites	Blood	2002	37
36	PHOX2B Regulates Its Own Expression by a Transcriptional Auto-regulatory Mechanism	Journal of Biological Chemistry	2005	37
37	NF1 exon�7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis�1 patient	Human Genetics	2003	35
38	Disruption of Friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis	Clinical Genetics	2007	33
39	Association of chromosome 10 losses and negative prognosis in oligoastrocytomas	Annals of Neurology	2002	32
40	Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene	European Journal of Human Genetics	2004	32
41	Ultrastructural definition of apoptosis in heart failure	Heart Failure Reviews	2008	32
42	Association and Functional Analyses of MEF2A as a Susceptibility Gene for Premature Myocardial Infarction and Coronary Artery Disease	Circulation: Cardiovascular Genetics	2009	32
43	Use of polymerase chain reaction to diagnose bovine leukemia virus infection in calves at birth	American Journal of Veterinary Research	1993	31
44	A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure	Human Reproduction	2009	30
45	A novel two base pair deletion in the factor V gene associated with severe factor V deficiency	British Journal of Haematology	2000	30
46	Regulation of Adrenomedullin Secretion in Cultured Human Skin and Oral Keratinocytes	Journal of Investigative Dermatology	2001	29
47	Distinct expression pattern of microtubule-associated protein/microtubule affinity-regulating kinase 4 in differentiated neurons	Neuroscience	2006	29
48	Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families	Journal of Neurology	2002	27
49	Non-random retention of protein-coding overlapping genes in Metazoa	BMC Genomics	2008	26
50	Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population	Thrombosis and Haemostasis	2011	26

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