PubRank

Paolo Gasparini

Author PubWeight™ 116.31‹?›

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 MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006 3.17
5 New gene functions in megakaryopoiesis and platelet formation. Nature 2011 3.14
6 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2012 3.04
7 Seventy-five genetic loci influencing the human red blood cell. Nature 2012 2.77
8 Variation in the bitter-taste receptor gene TAS2R38, and adiposity in a genetically isolated population in Southern Italy. Obesity (Silver Spring) 2008 2.57
9 Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. Biochem Biophys Res Commun 2006 2.21
10 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012 2.12
11 Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 2003 1.79
12 GOAL: automated Gene Ontology analysis of expression profiles. Nucleic Acids Res 2004 1.79
13 Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 2002 1.73
14 Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet 2012 1.68
15 Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet 2004 1.67
16 Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 2004 1.66
17 Multiple loci are associated with white blood cell phenotypes. PLoS Genet 2011 1.65
18 Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol 2005 1.63
19 Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004 1.59
20 Variation of hemoglobin levels in normal Italian populations from genetic isolates. Haematologica 2008 1.57
21 Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 2008 1.54
22 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 2009 1.51
23 Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet 2003 1.43
24 The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet 2009 1.39
25 Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 2005 1.27
26 Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med (Berl) 2001 1.19
27 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
28 Evidence of inbreeding depression on human height. PLoS Genet 2012 1.16
29 Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet 2012 1.14
30 FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet 2008 1.13
31 Insights into the binding of Phenyltiocarbamide (PTC) agonist to its target human TAS2R38 bitter receptor. PLoS One 2010 1.12
32 Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Eur J Hum Genet 2012 1.12
33 Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes. PLoS One 2009 1.11
34 Hearing loss: frequency and functional studies of the most common connexin26 alleles. Biochem Biophys Res Commun 2002 1.09
35 Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways. J Med Genet 2011 1.09
36 Natural history of juvenile haemochromatosis. Br J Haematol 2002 1.07
37 Genetic variation in taste sensitivity to 6-n-propylthiouracil and its relationship to taste perception and food selection. Ann N Y Acad Sci 2009 1.03
38 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. PLoS Genet 2013 1.02
39 Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells. EMBO Mol Med 2009 1.01
40 Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. Haematologica 2003 1.01
41 Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One 2012 1.01
42 Molecular epidemiology of Usher syndrome in Italy. Mol Vis 2011 0.97
43 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
44 Are MYO1C and MYO1F associated with hearing loss? Biochim Biophys Acta 2008 0.95
45 Regulatory evaluation of Glybera in Europe - two committees, one mission. Nat Rev Drug Discov 2013 0.94
46 Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2011 0.92
47 Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice. Neurobiol Aging 2013 0.91
48 A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. Eur J Hum Genet 2004 0.90
49 Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). Audiol Neurootol 2006 0.89
50 Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes. Blood Cells Mol Dis 2003 0.88
51 Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. Eur J Hum Genet 2003 0.88
52 DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. Hum Mol Genet 2013 0.88
53 Coarse-grained/molecular mechanics of the TAS2R38 bitter taste receptor: experimentally-validated detailed structural prediction of agonist binding. PLoS One 2013 0.87
54 A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. Hum Genet 2002 0.87
55 A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. Eur J Hum Genet 2003 0.86
56 Five new OTOF gene mutations and auditory neuropathy. Int J Pediatr Otorhinolaryngol 2010 0.86
57 Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. Am J Med Genet A 2008 0.86
58 Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Hum Genet 2002 0.86
59 Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. PLoS One 2013 0.85
60 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2013 0.84
61 A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2012 0.83
62 Detection of epidermal thickening in GJB2 carriers with epidermal US. Radiology 2009 0.83
63 Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations. Ophthalmic Genet 2011 0.83
64 Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12. Gene 2011 0.83
65 Common variants in Mendelian kidney disease genes and their association with renal function. J Am Soc Nephrol 2013 0.82
66 Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. J Immunol 2011 0.82
67 Genetics of food preferences: a first view from silk road populations. J Food Sci 2012 0.82
68 A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern. Heart Rhythm 2012 0.81
69 Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort. Gene 2013 0.81
70 Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations. Gene 2012 0.81
71 Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? Eur J Hum Genet 2008 0.81
72 Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar. Hum Hered 2015 0.80
73 Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations. Amino Acids 2008 0.80
74 Nanotechnologies and microchips in genetic diseases. J Nephrol 2003 0.80
75 A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients. Clin Chem Lab Med 2010 0.80
76 An expression atlas of connexin genes in the mouse. Genomics 2004 0.80
77 Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood 2003 0.79
78 Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Ophthalmic Genet 2011 0.79
79 Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. J Neurol 2005 0.79
80 Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. Int J Audiol 2003 0.79
81 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
82 Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet 2015 0.78
83 A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. Hum Mutat 2002 0.78
84 Age-related hearing loss in four Italian genetic isolates: an epidemiological study. Int J Audiol 2009 0.78
85 Individual differences in prefrontal cortex activity during perception of bitter taste using fNIRS methodology. Chem Senses 2010 0.78
86 Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans. PLoS One 2013 0.78
87 Audiometric evaluation of carriers of the connexin 26 mutation 35delG. Eur Arch Otorhinolaryngol 2005 0.78
88 Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. Int J Audiol 2010 0.77
89 A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic Genet 2010 0.77
90 Genes transcriptionally modulated by interferon alpha2a correlate with the cytokine activity. Haematologica 2004 0.77
91 Genetics of eye colours in different rural populations on the Silk Road. Eur J Hum Genet 2013 0.77
92 Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism. Eur J Med Genet 2012 0.77
93 Consanguinity and hereditary hearing loss in Qatar. Hum Hered 2014 0.77
94 A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2010 0.77
95 Microarray and large-scale in silico--based identification of genes functionally related to Haptoglobin and/or Hemopexin. DNA Cell Biol 2006 0.77
96 Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2013 0.76
97 Polymorphisms in sweet taste genes (TAS1R2 and GLUT2), sweet liking, and dental caries prevalence in an adult Italian population. Genes Nutr 2015 0.76
98 Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet 2010 0.75
99 First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip. Int J Legal Med 2012 0.75
100 Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep 2017 0.75
101 Caries and Innate Immunity: DEFB1 Gene Polymorphisms and Caries Susceptibility in Genetic Isolates from North-Eastern Italy. Caries Res 2016 0.75
102 De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012 0.75
103 Hereditary hemochromatosis: is the gene race over? Eur J Hum Genet 2004 0.75
104 Corrigendum: Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal. Sci Rep 2016 0.75
105 Delayed diagnosis of glycogen storage disease type III. J Pediatr Gastroenterol Nutr 2012 0.75
106 Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia. Int J Mol Med 2005 0.75