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List of works by Paolo Gasparini

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Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

scientific article
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018
A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

scientific article
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss

scientific article
Expression and replication studies to identify new candidate genes involved in normal hearing function

scientific article published on 14 January 2014
GABA (γ-Amino-Butyric Acid) Neurotransmission: Identification and Fine Mapping of the Human GABABReceptor Gene

scientific article published on September 18, 1998
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

scientific article published on 5 December 2016
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

scientific article published on 25 March 2015
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

scientific article
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

scientific article published on 17 July 2015
Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

scientific article published in Nature Communications
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss

scientific article
Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar

scientific article published on November 14, 2015
Genetic analysis of Italian patients with congenital tufting enteropathy

scientific article published on December 18, 2015
Understanding the role of personality and alexithymia in food preferences and PROP taste perception

scientific article published on January 22, 2016
Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

scientific article
Caries and Innate Immunity: DEFB1 Gene Polymorphisms and Caries Susceptibility in Genetic Isolates from North-Eastern Italy

scientific article published on 16 November 2016
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

scientific article published on 10 April 2019
The p.Cys169Tyr variant of connexin 26 is not a polymorphism

scientific article
Genetics of eye colours in different rural populations on the Silk Road

scientific article published on March 13, 2013
Analysis of functional variants reveals new candidate genes associated with alexithymia

scientific article published on March 27, 2015
Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families

scientific article published on 4 May 2017
LTF and DEFB1 polymorphisms are associated with susceptibility toward chronic periodontitis development

scientific article
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics
Identification of a New Mutation (L46P) in the Human <b><i>NOG</i></b> Gene in an Italian Patient with Symphalangism Syndrome

scientific article published on April 11, 2012
Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations

scientific article

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