Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
|
Nat Genet
|
2008
|
25.83
|
2
|
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
|
Nat Genet
|
2010
|
17.89
|
3
|
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.
|
PLoS Genet
|
2007
|
14.99
|
4
|
Variants in MTNR1B influence fasting glucose levels.
|
Nat Genet
|
2008
|
10.85
|
5
|
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
|
PLoS Genet
|
2006
|
8.19
|
6
|
Common variants in the GDF5-UQCC region are associated with variation in human height.
|
Nat Genet
|
2008
|
7.31
|
7
|
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
|
Proc Natl Acad Sci U S A
|
2008
|
5.27
|
8
|
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
|
Proc Natl Acad Sci U S A
|
2008
|
4.46
|
9
|
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
|
Diabetes
|
2010
|
4.07
|
10
|
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
|
J Clin Invest
|
2008
|
3.51
|
11
|
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
|
PLoS Genet
|
2012
|
3.21
|
12
|
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
|
PLoS Genet
|
2007
|
3.21
|
13
|
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.
|
Haematologica
|
2008
|
2.92
|
14
|
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
|
Hum Mol Genet
|
2004
|
2.15
|
15
|
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
|
Hum Mol Genet
|
2009
|
1.87
|
16
|
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
|
Am J Hum Genet
|
2008
|
1.77
|
17
|
IRAK-M is involved in the pathogenesis of early-onset persistent asthma.
|
Am J Hum Genet
|
2007
|
1.77
|
18
|
A genome-wide association search for type 2 diabetes genes in African Americans.
|
PLoS One
|
2012
|
1.72
|
19
|
KLF1 gene mutations cause borderline HbA(2).
|
Blood
|
2011
|
1.71
|
20
|
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
|
Blood
|
2009
|
1.62
|
21
|
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.
|
Hum Mol Genet
|
2007
|
1.59
|
22
|
Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation.
|
Lancet
|
2003
|
1.48
|
23
|
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
|
Am J Hum Genet
|
2007
|
1.27
|
24
|
Foxl2 functions in sex determination and histogenesis throughout mouse ovary development.
|
BMC Dev Biol
|
2009
|
1.23
|
25
|
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.
|
Haematologica
|
2011
|
1.23
|
26
|
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
|
PLoS Genet
|
2012
|
1.23
|
27
|
COL4A1 is associated with arterial stiffness by genome-wide association scan.
|
Circ Cardiovasc Genet
|
2009
|
1.16
|
28
|
Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.
|
Br J Haematol
|
2004
|
1.15
|
29
|
The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study.
|
Eur Heart J
|
2009
|
1.10
|
30
|
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
|
J Pediatr Gastroenterol Nutr
|
2008
|
1.08
|
31
|
Effect of consanguinity on screening for thalassemia.
|
N Engl J Med
|
2002
|
1.05
|
32
|
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.
|
J Clin Endocrinol Metab
|
2012
|
1.03
|
33
|
Gene test review. Alpha-thalassemia.
|
Genet Med
|
2011
|
1.02
|
34
|
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
|
Pediatr Nephrol
|
2008
|
1.00
|
35
|
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.
|
Eur J Hum Genet
|
2008
|
1.00
|
36
|
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.
|
Genomics
|
2004
|
1.00
|
37
|
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
J Biol Chem
|
2009
|
0.97
|
38
|
Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region.
|
Eur J Hum Genet
|
2004
|
0.96
|
39
|
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
|
Br J Haematol
|
2002
|
0.96
|
40
|
Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray.
|
Clin Chem
|
2002
|
0.95
|
41
|
Determination and stability of sex.
|
Bioessays
|
2007
|
0.95
|
42
|
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.
|
Am J Med Genet A
|
2006
|
0.94
|
43
|
A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.
|
J Mol Diagn
|
2006
|
0.91
|
44
|
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.
|
Mol Immunol
|
2007
|
0.90
|
45
|
Regulation of the human HBA genes by KLF4 in erythroid cell lines.
|
Br J Haematol
|
2010
|
0.89
|
46
|
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
|
J Gastroenterol
|
2006
|
0.88
|
47
|
Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy.
|
Eur J Pediatr
|
2008
|
0.87
|
48
|
Klf1 affects DNase II-alpha expression in the central macrophage of a fetal liver erythroblastic island: a non-cell-autonomous role in definitive erythropoiesis.
|
Mol Cell Biol
|
2011
|
0.86
|
49
|
DAXX is a new AIRE-interacting protein.
|
J Biol Chem
|
2010
|
0.86
|
50
|
Trisomy 8 mosaicism in a patient born to a mother with 47,XXX.
|
Am J Med Genet A
|
2003
|
0.86
|
51
|
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
|
J Hum Genet
|
2006
|
0.85
|
52
|
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
Genet Test
|
2007
|
0.85
|
53
|
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
|
J Clin Endocrinol Metab
|
2002
|
0.84
|
54
|
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.
|
Haematologica
|
2002
|
0.84
|
55
|
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
|
Clin Chem Lab Med
|
2004
|
0.83
|
56
|
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
|
Mol Cell Probes
|
2012
|
0.83
|
57
|
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
|
Eur J Med Genet
|
2006
|
0.82
|
58
|
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
|
Genet Test
|
2003
|
0.82
|
59
|
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.
|
PLoS One
|
2010
|
0.82
|
60
|
A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.
|
J Mol Diagn
|
2010
|
0.81
|
61
|
Thalassaemia-like carriers not linked to the beta-globin gene cluster.
|
Br J Haematol
|
2006
|
0.81
|
62
|
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
|
J Cyst Fibros
|
2011
|
0.80
|
63
|
Quality of life and survival of patients with beta-thalassemia major.
|
Haematologica
|
2004
|
0.80
|
64
|
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
|
Genet Test Mol Biomarkers
|
2009
|
0.80
|
65
|
The distal beta-globin CACCC box is required for maximal stimulation of the beta-globin gene by EKLF.
|
Br J Haematol
|
2004
|
0.80
|
66
|
In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice.
|
Haematologica
|
2013
|
0.80
|
67
|
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia.
|
Genet Test
|
2002
|
0.80
|
68
|
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF.
|
Br J Haematol
|
2004
|
0.79
|
69
|
Transcriptional control of ovarian development in somatic cells.
|
Semin Reprod Med
|
2007
|
0.79
|
70
|
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.
|
Mol Cell Probes
|
2011
|
0.79
|
71
|
Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation.
|
Blood Cells Mol Dis
|
2002
|
0.79
|
72
|
No influence of chromosome Y haplogroup variation in acute graft-versus-host disease in sardinia.
|
Transplantation
|
2006
|
0.77
|
73
|
beta-Minor globin gene expression is preferentially reduced in EKLF Knock-Out mice.
|
Gene
|
2005
|
0.77
|
74
|
Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
|
Dig Liver Dis
|
2012
|
0.77
|
75
|
Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene.
|
Blood Cells Mol Dis
|
2010
|
0.77
|
76
|
Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.
|
Mol Cell Probes
|
2010
|
0.76
|
77
|
Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.
|
Clin Chem
|
2003
|
0.75
|
78
|
Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes.
|
Prenat Diagn
|
2006
|
0.75
|
79
|
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.
|
Mol Cell Probes
|
2011
|
0.75
|
80
|
Homozygosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype.
|
Blood
|
2002
|
0.75
|
81
|
Neural tube defects in the offspring of thalassemia carriers.
|
Fetal Diagn Ther
|
2003
|
0.75
|