List of works - Mario Ventura

A Short Indel-Lacking-Resistance Gene Triggers Silencing of the Photosynthetic Machinery Components Through TYLCSV-Associated Endogenous siRNAs in Tomato

article

A burst of segmental duplications in the genome of the African great ape ancestor

scientific article published on February 2009

A genome-wide comparison of recent chimpanzee and human segmental duplications

scientific article

A genome-wide survey of structural variation between human and chimpanzee

scientific article

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

scientific article

A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1.

scientific article published on 10 October 2003

A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications

scientific article

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

scientific article published on 17 February 2008

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

scientific article

Alu repeat discovery and characterization within human genomes

scientific article

Analysis of chromosome conservation in Lemur catta studied by chromosome paints and BAC/PAC probes.

scientific article published on 09 October 2002

Analysis of copy number variations among diverse cattle breeds.

scientific article

Analysis of high-identity segmental duplications in the grapevine genome

scientific article

Analysis of recent segmental duplications in the bovine genome

scientific article

Analysis of segmental duplications and genome assembly in the mouse

scientific article published on May 2004

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution

scientific article published on 7 October 2007

BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure

scientific article published in April 2003

Centromere emergence in evolution

scientific article published on April 2001

Characterization and in vitro differentiation potency of early-passage canine amnion- and umbilical cord-derived mesenchymal stem cells as related to gestational age

scientific article published on 18 April 2014

Characterization of a highly repeated DNA sequence family in five species of the genus Eulemur

scientific article published in September 2001

Characterization of missing human genome sequences and copy-number polymorphic insertions

scientific article

Characterization of six human disease-associated inversion polymorphisms

scientific article published on 21 April 2009

Chromosome 6 phylogeny in primates and centromere repositioning.

scientific article

Comparative localization of the mannose-binding lectin-2 (MBL2) gene in non-human primates

scientific article published in 2005

Complex events in the evolution of the human pseudoautosomal region 2 (PAR2)

scientific article

Computational detection and experimental validation of segmental duplications and associated copy number variations in water buffalo ( Bubalus bubalis )

scientific article published on 07 February 2019

Copy number variation of individual cattle genomes using next-generation sequencing

scientific article published on 2 February 2012

Death and resurrection of the human IRGM gene

scientific article published in March 2009

Diet influences the functions of the human intestinal microbiome

scientific article published on 06 March 2020

Discovery of large genomic inversions using long range information

scientific article

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

scientific article published on 03 August 2016

Evaluating the Impact of Sex-Biased Genetic Admixture in the Americas through the Analysis of Haplotype Data

Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution

scientific article (publication date: 2004)

Evolution and diversity of copy number variation in the great ape lineage

scientific article published on 03 July 2013

Evolution of beta satellite DNA sequences: evidence for duplication-mediated repeat amplification and spreading.

scientific article

Evolutionary Formation of New Centromeres in Macaque

scientific article published in Science

Evolutionary dynamism of the primate LRRC37 gene family

scientific article

Evolutionary history of chromosome 10 in primates

scientific article published in November 2002

Evolutionary history of chromosome 11 featuring four distinct centromere repositioning events in Catarrhini

scientific article published on 8 May 2007

Evolutionary toggling of the MAPT 17q21.31 inversion region

scientific article

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

scientific article (publication date: 2011)

Genomic characteristics of cattle copy number variations.

scientific article

Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).

scientific article

Gibbon genome and the fast karyotype evolution of small apes

scientific article

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

scientific article

Great ape genetic diversity and population history

scientific article published on 03 July 2013

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

scientific article published on 10 June 2002

High-resolution comparative analysis of great ape genomes

scientific article published in Science

Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.

scientific article

Hominoid fission of chromosome 14/15 and the role of segmental duplications.

scientific article published on 27 September 2013

Human chromosome 16 conservation in primates.

scientific article published on January 2003

Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms

scientific article

Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location

scientific article

Initial analysis of copy number variations in cattle selected for resistance or susceptibility to intestinal nematodes.

scientific article

Inter-varietal structural variation in grapevine genomes

scientific article published on 15 July 2016

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

scientific article published on 07 October 2016

Inversion variants in human and primate genomes

scientific article published on 18 May 2018

Isolation, proliferation, cytogenetic, and molecular characterization and in vitro differentiation potency of canine stem cells from foetal adnexa: a comparative study of amniotic fluid, amnion, and umbilical cord matrix

scientific article published on 12 April 2011

Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms.

scientific article

Localization of a new highly repeated DNA sequence of Lemur catta (Lemuridae, Strepsirhini)

scientific article published in October 2002

MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia.

scientific article

Male infertility and copy number variants (CNVs) in the dog: a two-pronged approach using Computer Assisted Sperm Analysis (CASA) and Fluorescent In Situ Hybridization (FISH).

scientific article

Molecular structure and evolution of DNA sequences located at the alpha satellite boundary of chromosome 20.

scientific article published in October 2000

Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.

scientific article

New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset

scientific article

Non-invasive fetal genome sequencing: opportunities and challenges

scientific article published on 10 August 2012

Noninvasive whole-genome sequencing of a human fetus.

scientific article

NumtS colonization in mammalian genomes

scientific article

Organization and evolution of Gorilla centromeric DNA from old strategies to new approaches

scientific article

Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data

scientific article

Primate chromosome evolution: ancestral karyotypes, marker order and neocentromeres.

scientific article published on January 2008

Punctuated duplication seeding events during the evolution of human chromosome 2p11.

scientific article

Rates and patterns of great ape retrotransposition

scientific article published on 24 July 2013

Recurrent duplication-driven transposition of DNA during hominoid evolution

scholarly article

Recurrent inversion toggling and great ape genome evolution

scientific article published on 15 June 2020

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

scientific article

Recurrent sites for new centromere seeding

scientific article published on September 2004

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

scientific article

Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites

scientific article

The birth of a human-specific neural gene by incomplete duplication and gene fusion

scientific article published on 09 March 2017

The bonobo genome compared with the chimpanzee and human genomes

scientific article

The establishment of a fungal consortium in a new winery

scientific article published on 14 May 2020

The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2.

scientific article

The genomic architecture of segmental duplications and associated copy number variants in dogs

scientific article published on 07 January 2009

The structure, function and evolution of a complete human chromosome 8

scientific article published on 07 April 2021

Transcriptomic and genomic structural variation analyses on grape cultivars reveal new insights into the genotype-dependent responses to water stress

article

Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications

scientific article published on 30 May 2003

List of works by Mario Ventura

A Short Indel-Lacking-Resistance Gene Triggers Silencing of the Photosynthetic Machinery Components Through TYLCSV-Associated Endogenous siRNAs in Tomato

A burst of segmental duplications in the genome of the African great ape ancestor

A genome-wide comparison of recent chimpanzee and human segmental duplications

A genome-wide survey of structural variation between human and chimpanzee

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1.

A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

Alu repeat discovery and characterization within human genomes

Analysis of chromosome conservation in Lemur catta studied by chromosome paints and BAC/PAC probes.

Analysis of copy number variations among diverse cattle breeds.

Analysis of high-identity segmental duplications in the grapevine genome

Analysis of recent segmental duplications in the bovine genome

Analysis of segmental duplications and genome assembly in the mouse

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution

BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure

Centromere emergence in evolution

Characterization and in vitro differentiation potency of early-passage canine amnion- and umbilical cord-derived mesenchymal stem cells as related to gestational age

Characterization of a highly repeated DNA sequence family in five species of the genus Eulemur

Characterization of missing human genome sequences and copy-number polymorphic insertions

Characterization of six human disease-associated inversion polymorphisms

Chromosome 6 phylogeny in primates and centromere repositioning.

Comparative localization of the mannose-binding lectin-2 (MBL2) gene in non-human primates

Complex events in the evolution of the human pseudoautosomal region 2 (PAR2)

Computational detection and experimental validation of segmental duplications and associated copy number variations in water buffalo ( Bubalus bubalis )

Copy number variation of individual cattle genomes using next-generation sequencing

Death and resurrection of the human IRGM gene

Diet influences the functions of the human intestinal microbiome

Discovery of large genomic inversions using long range information

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Evaluating the Impact of Sex-Biased Genetic Admixture in the Americas through the Analysis of Haplotype Data

Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution

Evolution and diversity of copy number variation in the great ape lineage

Evolution of beta satellite DNA sequences: evidence for duplication-mediated repeat amplification and spreading.

Evolutionary Formation of New Centromeres in Macaque

Evolutionary dynamism of the primate LRRC37 gene family

Evolutionary history of chromosome 10 in primates

Evolutionary history of chromosome 11 featuring four distinct centromere repositioning events in Catarrhini

Evolutionary toggling of the MAPT 17q21.31 inversion region

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

Genomic characteristics of cattle copy number variations.

Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).

Gibbon genome and the fast karyotype evolution of small apes

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

Great ape genetic diversity and population history

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

High-resolution comparative analysis of great ape genomes

Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.

Hominoid fission of chromosome 14/15 and the role of segmental duplications.

Human chromosome 16 conservation in primates.

Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms

Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location

Initial analysis of copy number variations in cattle selected for resistance or susceptibility to intestinal nematodes.

Inter-varietal structural variation in grapevine genomes

Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

Inversion variants in human and primate genomes

Isolation, proliferation, cytogenetic, and molecular characterization and in vitro differentiation potency of canine stem cells from foetal adnexa: a comparative study of amniotic fluid, amnion, and umbilical cord matrix

Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms.

Localization of a new highly repeated DNA sequence of Lemur catta (Lemuridae, Strepsirhini)

MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia.

Male infertility and copy number variants (CNVs) in the dog: a two-pronged approach using Computer Assisted Sperm Analysis (CASA) and Fluorescent In Situ Hybridization (FISH).

Molecular structure and evolution of DNA sequences located at the alpha satellite boundary of chromosome 20.

Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.

New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset

Non-invasive fetal genome sequencing: opportunities and challenges

Noninvasive whole-genome sequencing of a human fetus.

NumtS colonization in mammalian genomes

Organization and evolution of Gorilla centromeric DNA from old strategies to new approaches

Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data

Primate chromosome evolution: ancestral karyotypes, marker order and neocentromeres.

Punctuated duplication seeding events during the evolution of human chromosome 2p11.

Rates and patterns of great ape retrotransposition

Recurrent duplication-driven transposition of DNA during hominoid evolution

Recurrent inversion toggling and great ape genome evolution

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

Recurrent sites for new centromere seeding

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites