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List of works by Andrea Angius

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An integrated map of genetic variation from 1,092 human genomes

scientific article
A reference panel of 64,976 haplotypes for genotype imputation

scientific article
Integrative annotation of variants from 1092 humans: application to cancer genomics

scientific article
Loss of mismatched HLA in leukemia after stem-cell transplantation.

scientific article
Genetic variants regulating immune cell levels in health and disease.

scientific article published on September 2013
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

scientific article
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article
Overexpression of the Cytokine BAFF and Autoimmunity Risk

scientific article
Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

scientific article
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

scientific article
A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

scientific article
DNA hydroxymethylation controls cardiomyocyte gene expression in development and hypertrophy.

scientific article published on 04 August 2016
Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits.

scientific article
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

scientific article published on 8 October 2014
Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe

scientific article (publication date: May 2014)
A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two genetically differentiated isolates of Sardinia.

scientific article
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

scientific article
Height-reducing variants and selection for short stature in Sardinia

scientific article
Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

scientific article published on 14 July 2015
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

scientific article
Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis

scientific article
High Resolution Analysis and Phylogenetic Network Construction Using Complete mtDNA Sequences in Sardinian Genetic Isolates

article
EDA2R is associated with androgenetic alopecia.

scientific article published on 3 April 2008
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

scientific article
Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene

scientific article
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations

article
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population

scientific article published on January 1, 1998
High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis

scientific article
Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations

scientific article published on 12 November 2003
Environmental and genetic contribution to hypertension prevalence: data from an epidemiological survey on Sardinian genetic isolates.

scientific article
Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

scientific article
Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes.

scientific article published on 28 April 2015
Identification of a new candidate locus for uric acid nephrolithiasis

scientific article
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

scientific article published on 21 May 2015
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

scientific article published on 16 May 2013
Genomic history of the Sardinian population

scientific article published on 17 September 2018
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients

scientific article published on 01 December 1996
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

scientific journal article
The Changing Landscape of Naive T Cell Receptor Repertoire With Human Aging

scientific article published on 24 July 2018
Patterns of Linkage Disequilibrium between SNPs in a Sardinian Population Isolate and the Selection of Markers for Association Studies

Population- and individual-specific regulatory variation in Sardinia.

scientific article published on 10 April 2017
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers

scientific article published on 01 October 1994
Novel X-linked mental retardation syndrome with short stature maps to Xq24.

scientific article published in September 2001
A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case

scientific article (publication date: February 2000)
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

scientific article published on 6 March 2014
Global microRNA profiling of peripheral blood mononuclear cells in patients with Behçet's disease

scientific article published on 19 October 2015
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

scientific article
Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample

scientific article published on 30 April 2015
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

scientific article published on 04 September 2019
Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

scientific article published on 27 May 2014

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