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exaly
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Department of Biology and Genetics for Medical Sciences
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top-articles
Department of Biology and Genetics for Medical Sciences
119
(top 1%)
papers
4.6K
(top 1%)
citations
35
(top 1%)
h
-index
65
(top 1%)
g
-index
122
all documents
4.8K
doc citations
1.3K
citing journals
Top Articles
#
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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