Drupal-Biblio17<style face="normal" font="default" size="100%">Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A genome-wide association study identifies an association between variants in EFCAB4B gene and periodontal disease in an Italian isolated population.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Investigation of the link between PROP taste perception and vegetables consumption using FAOSTAT data.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Joint Data Analysis in Nutritional Epidemiology: Identification of Observational Studies and Minimal Requirements.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.</style>Drupal-Biblio17<style face="normal" font="default" size="100%"> and Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Factors Influencing the Phenotypic Characterization of the Oral Marker, PROP.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic structure in the Sherpa and neighboring Nepalese populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Rare and low-frequency coding variants alter human adult height.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association study identifies 74 loci associated with educational attainment.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A Genome-Wide Association Study in isolated populations reveals new genes associated to common food likings.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A reference panel of 64,976 haplotypes for genotype imputation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Understanding the role of personality and alexithymia in food preferences and PROP taste perception.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Analysis of functional variants reveals new candidate genes associated with alexithymia.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Directional dominance on stature and cognition in diverse human populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic analysis of Italian patients with congenital tufting enteropathy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Modulation of genetic associations with serum urate levels by body-mass-index in humans.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Multicohort analysis of the maternal age effect on recombination.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The p.Cys169Tyr variant of connexin 26 is not a polymorphism.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Polymorphisms in sweet taste genes (TAS1R2 and GLUT2), sweet liking, and dental caries prevalence in an adult Italian population.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Population genetic differentiation of height and body mass index across Europe.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Consanguinity and hereditary hearing loss in Qatar.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Expression and replication studies to identify new candidate genes involved in normal hearing function.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A general approach for haplotype phasing across the full spectrum of relatedness.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic landscape of populations along the Silk Road: admixture and migration patterns.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Insight into genetic determinants of resting heart rate.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A population-based approach to study the impact of PROP perception on food liking in populations along the Silk Road.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Delayed diagnosis of glycogen storage disease type III.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Evidence of inbreeding depression on human height.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetics of food preferences: a first view from silk road populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association and functional follow-up reveals new loci for kidney function.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Multiple loci are associated with white blood cell phenotypes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Five new OTOF gene mutations and auditory neuropathy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Individual differences in prefrontal cortex activity during perception of bitter taste using fNIRS methodology.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Insights into the binding of Phenyltiocarbamide (PTC) agonist to its target human TAS2R38 bitter receptor.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.</style>