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List of works by Paolo Gasparini

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

scientific article

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

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

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

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

scientific article published on 16 November 2016

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

scientific article published on 25 March 2015

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

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

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

scientific article published on 17 September 2018

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

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

scientific article published on 11 May 2016

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

LTF and DEFB1 polymorphisms are associated with susceptibility toward chronic periodontitis development

scientific article

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

scientific article

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

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

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

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

scientific article

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

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

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

scientific article published on 5 December 2016

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

scientific article

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families

scientific article published on 4 May 2017

The p.Cys169Tyr variant of connexin 26 is not a polymorphism

scientific article

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