PubRank

Daniela Toniolo

Author PubWeight™ 76.46‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genetic structure of Europeans: a view from the North-East. PLoS One 2009 3.46
2 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011 3.40
3 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010 3.37
4 New gene functions in megakaryopoiesis and platelet formation. Nature 2011 3.14
5 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2012 3.04
6 Seventy-five genetic loci influencing the human red blood cell. Nature 2012 2.77
7 Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol 2009 2.21
8 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012 2.12
9 General population low-count CLL-like MBL persists over time without clinical progression, although carrying the same cytogenetic abnormalities of CLL. Blood 2011 1.96
10 Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet 2010 1.87
11 Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet 2012 1.68
12 Multiple loci are associated with white blood cell phenotypes. PLoS Genet 2011 1.65
13 Variation of hemoglobin levels in normal Italian populations from genetic isolates. Haematologica 2008 1.57
14 A genome-wide association study of early menopause and the combined impact of identified variants. Hum Mol Genet 2013 1.50
15 The immunoglobulin gene repertoire of low-count chronic lymphocytic leukemia (CLL)-like monoclonal B lymphocytosis is different from CLL: diagnostic implications for clinical monitoring. Blood 2008 1.47
16 TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood 2011 1.39
17 Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J Med Genet 2011 1.28
18 A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet 2008 1.20
19 Age- and sex-related variations in platelet count in Italy: a proposal of reference ranges based on 40987 subjects' data. PLoS One 2013 1.19
20 Evidence of inbreeding depression on human height. PLoS Genet 2012 1.16
21 Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet 2008 1.15
22 Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum Mol Genet 2002 1.15
23 Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod 2006 1.14
24 Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet 2012 1.14
25 Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Eur J Hum Genet 2012 1.12
26 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet 2013 1.12
27 Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes. PLoS One 2009 1.11
28 Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003 1.05
29 Increased serum hepcidin levels in subjects with the metabolic syndrome: a population study. PLoS One 2012 1.05
30 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 2003 1.04
31 BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat 2009 1.00
32 Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003 0.98
33 Mice deficient for the synaptic vesicle protein Rab3a show impaired spatial reversal learning and increased explorative activity but none of the behavioral changes shown by mice deficient for the Rab3a regulator Gdi1. Eur J Neurosci 2004 0.97
34 Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. Br J Haematol 2011 0.95
35 Inherited genetic susceptibility to monoclonal B-cell lymphocytosis. Blood 2010 0.94
36 Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training. Hum Mol Genet 2008 0.94
37 Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. Am J Epidemiol 2013 0.93
38 Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet 2007 0.91
39 Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. Am J Med Genet A 2006 0.90
40 Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. Neuromuscul Disord 2002 0.90
41 Small effective population size and genetic homogeneity in the Val Borbera isolate. Eur J Hum Genet 2012 0.89
42 Genome-wide meta-analysis of common variant differences between men and women. Hum Mol Genet 2012 0.88
43 A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. Eur J Hum Genet 2004 0.86
44 Serum levels of the hepcidin-20 isoform in a large general population: the Val Borbera study. J Proteomics 2012 0.83
45 Barth syndrome presenting with acute metabolic decompensation in the neonatal period. J Inherit Metab Dis 2006 0.83
46 Common variants in Mendelian kidney disease genes and their association with renal function. J Am Soc Nephrol 2013 0.82
47 The A736V TMPRSS6 polymorphism influences hepcidin and iron metabolism in chronic hemodialysis patients: TMPRSS6 and hepcidin in hemodialysis. BMC Nephrol 2013 0.82
48 Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? PLoS One 2008 0.80
49 Spatial and temporal expression of POF1B, a gene expressed in epithelia. Gene Expr Patterns 2006 0.80
50 Identification of TRIM22 single nucleotide polymorphisms associated with loss of inhibition of HIV-1 transcription and advanced HIV-1 disease. AIDS 2013 0.79
51 Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. Hum Reprod 2007 0.79
52 Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. Eur J Hum Genet 2011 0.79
53 Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. Mol Genet Metab 2003 0.78
54 Temporal gene expression profile of the hippocampus following trace fear conditioning. Brain Res 2009 0.78
55 Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans. PLoS One 2013 0.78
56 Computer-based genealogy reconstruction in founder populations. J Biomed Inform 2011 0.77
57 Erratum: Whole-genome sequence-based analysis of thyroid function. Nat Commun 2015 0.77
58 Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections. PLoS One 2012 0.77
59 A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. Hum Reprod 2009 0.77
60 Correction: Increased Serum Hepcidin Levels in Subjects with the Metabolic Syndrome: A Population Study. PLoS One 2013 0.76
61 The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. J Cell Sci 2011 0.76
62 COL6A5 variants in familial neuropathic chronic itch. Brain 2017 0.75
63 Corrigendum: Rare coding variants and X-linked loci associated with age at menarche. Nat Commun 2015 0.75
64 Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nat Commun 2015 0.75
65 Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep 2017 0.75