List of works - Diego Vozzi

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

scientific article

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

scientific article published on 16 February 2013

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

scientific article

Consanguinity and hereditary hearing loss in Qatar

scientific article

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

scientific article published on 17 December 2015

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Effect of materials for micro-electro-mechanical systems on PCR yield

scientific article published on 20 May 2009

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

scientific article published on 18 September 2014

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

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

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

scientific article published on 11 May 2016

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

scientific article published on 20 March 2014

Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar

scientific article published on January 2015

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

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

scientific article

Mevalonate kinase deficiency and IBD: shared genetic background.

scientific article published on 14 February 2014

Microarray and Large-Scale In Silico–Based Identification of Genes Functionally Related to Haptoglobin and/or Hemopexin

article

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

scientific article

Molecular epidemiology of Usher syndrome in Italy ⬇️

scientific article published on June 22, 2011

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

scientific article

One-shot genetic analysis in monolithic Silicon/Pyrex microdevices.

scientific article published in December 2012

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

scientific article

Putative modifier genes in mevalonate kinase deficiency.

scientific article published on 22 February 2016

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare coding variants and X-linked loci associated with age at menarche

scientific article

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

scholarly article by Anna Morgan published in November 2015

The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

scientific article

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

scientific article published on 11 August 2015

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis

scientific article published on 6 January 2015

List of works by Diego Vozzi

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

Consanguinity and hereditary hearing loss in Qatar

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

Directional dominance on stature and cognition in diverse human populations

Effect of materials for micro-electro-mechanical systems on PCR yield

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

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

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

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

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

Mevalonate kinase deficiency and IBD: shared genetic background.

Microarray and Large-Scale In Silico–Based Identification of Genes Functionally Related to Haptoglobin and/or Hemopexin

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

Molecular epidemiology of Usher syndrome in Italy ⬇️

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

One-shot genetic analysis in monolithic Silicon/Pyrex microdevices.

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

Putative modifier genes in mevalonate kinase deficiency.

Rare and low-frequency coding variants alter human adult height

Rare coding variants and X-linked loci associated with age at menarche

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis