List of works - Luciano Xumerle

Application of the whole-transcriptome shotgun sequencing approach to the study of Philadelphia-positive acute lymphoblastic leukemia.

scientific article published on 9 March 2012

Association of childhood allergic asthma with markers flanking the IL33 gene in Italian families

scientific article

Centenarians as extreme phenotypes: An ecological perspective to get insight into the relationship between the genetics of longevity and age-associated diseases

scientific article published on 24 February 2017

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers

scientific article published on 21 May 2018

Characterization of transcriptional complexity during berry development in Vitis vinifera using RNA-Seq.

scientific article published on 29 January 2010

Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma

scientific article published in January 2007

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

scientific article

Fully non-homogeneous hidden Markov model double net: a generative model for haplotype reconstruction and block discovery

scientific article published on 23 October 2008

Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans

scientific article published on 22 May 2020

IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients

scientific article published on 23 September 2015

Identification of new BMP6 pro-peptide mutations in patients with iron overload.

scientific article published on 23 March 2017

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

scientific article published in June 2016

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

scientific article published on 18 December 2018

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Next generation sequencing: new tools in immunology and hematology

scientific article

On site DNA barcoding by nanopore sequencing

scientific article published on 4 October 2017

SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease

scientific article published on 5 March 2008

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

scientific article published on 22 November 2018

The Solanum commersonii Genome Sequence Provides Insights into Adaptation to Stress Conditions and Genome Evolution of Wild Potato Relatives

scientific article

The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data

scientific article

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families

scientific article published in August 2012

Wheat IgE profiling and wheat IgE levels in bakers with allergic occupational phenotypes

scientific article published on 17 May 2013

List of works by Luciano Xumerle

Application of the whole-transcriptome shotgun sequencing approach to the study of Philadelphia-positive acute lymphoblastic leukemia.

Association of childhood allergic asthma with markers flanking the IL33 gene in Italian families

Centenarians as extreme phenotypes: An ecological perspective to get insight into the relationship between the genetics of longevity and age-associated diseases

Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers

Characterization of transcriptional complexity during berry development in Vitis vinifera using RNA-Seq.

Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Fully non-homogeneous hidden Markov model double net: a generative model for haplotype reconstruction and block discovery

Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans

IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients

Identification of new BMP6 pro-peptide mutations in patients with iron overload.

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Next generation sequencing: new tools in immunology and hematology

On site DNA barcoding by nanopore sequencing

SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

The Solanum commersonii Genome Sequence Provides Insights into Adaptation to Stress Conditions and Genome Evolution of Wild Potato Relatives

The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data

The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families

Wheat IgE profiling and wheat IgE levels in bakers with allergic occupational phenotypes