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List of works by Jaume Bertranpetit

1000 Genomes Selection Browser 1.0: a genome browser dedicated to signatures of natural selection in modern humans

scientific article

A comprehensive model of the phototransduction cascade in mouse rod cells

scientific article published on 28 March 2014

A genetic reconstruction of the history of the population of the Iberian Peninsula

scientific article published in January 1991

A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis

scientific article

A genome-wide association study identifiesSLC8A3as a susceptibility locus for ACPA-positive rheumatoid arthritis

scholarly article by Antonio Julià et al published 15 March 2016 in Rheumatology

A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300

scientific journal article

A genome-wide survey does not show the genetic distinctiveness of Basques

A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations ⬇️

scientific article published on August 25, 2010

A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity

scientific article

A highly divergent mtDNA sequence in a Neandertal individual from Italy

article

A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals

scientific article

A natural history of FUT2 polymorphism in humans.

scientific article published in June 2009

A new method to reconstruct recombination events at a genomic scale

scientific article

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

scientific article

A prevalent POLG CAG microsatellite length allele in humans and African great apes.

scientific article

A system-level, molecular evolutionary analysis of mammalian phototransduction

scientific article

A tale of two islands: population history and mitochondrial DNA sequence variation of Bioko and São Tomé, Gulf of Guinea

scientific article

A targeted association study of immunity genes and networks suggests novel associations with placental malaria infection.

scientific article

A variant in the gene FUT9 is associated with susceptibility to placental malaria infection.

scientific article published on 21 May 2009

Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages

scientific article

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

scientific article published on 26 October 2007

Allele Frequencies for 20 Microsatellites in a Worldwide Population Survey

Allele frequencies in a worldwide survey of a CA repeat in the first intron of the CFTR gene

scientific article published in January 1999

Allele frequencies of 13 short tandem repeats in population samples from the Iberian Peninsula and northern Africa

scientific article

Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits

scientific article

Alu insertion polymorphisms in the Balkans and the origins of the Aromuns

scientific article (publication date: March 2004)

An assessment of a massively parallel sequencing approach for the identification of individuals from mass graves of the Spanish Civil War (1936-1939).

scientific article published on 4 August 2016

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

scientific article

An integrative evolution theory of histo-blood group ABO and related genes

scientific article published on 13 October 2014

Approximate Bayesian computation with deep learning supports a third archaic introgression in Asia and Oceania

scientific article published in Nature Communications

Assessing the signatures of selection in PRNP from polymorphism data: results support Kreitman and Di Rienzo's opinion

article by Marta Soldevila et al published July 2005 in Trends in Genetics

Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population

scientific article

Association study between Alzheimer's disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1.

scientific article published in August 2003

Between europe and the mediterranean: high resolution Y-Chromosome structure of Italy - preliminary results

article

Biology, boundaries and borders

Birth, marriage and death in illegitimacy: a study in northern Portugal

scientific article published in October 1995

Can a place of origin of the main cystic fibrosis mutations be identified?

scientific article

Cerdanya: mountain valley, genetic highway

Chromosomal rearrangements and the genomic distribution of gene-expression divergence in humans and chimpanzees

scientific article published in November 2004

Comparative Genetics of Functional Trinucleotide Tandem Repeats in Humans and Apes

article

Comparative analysis of Alu insertion sequences in the APP 5' flanking region in humans and other primates

scientific article

Comparative analysis of cancer genes in the human and chimpanzee genomes

scientific article

Complement genetic markers in schizophrenia: C3, BF and C6 polymorphisms

scientific article published in January 1992

Convergent evolution in European and Rroma populations reveals pressure exerted by plague on Toll-like receptors

scientific article published on 03 February 2014

Correction to: Origins, admixture and founder lineages in European Roma

scientific article

Correlation between genetic and geographic structure in Europe

scientific article

Cosmic phylogeny: reconstructing the chemical history of the solar neighbourhood with an evolutionary tree ⬇️

article

Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD.

scientific article

Demographic parameters and twinning: a study in Catalonia, Spain

scientific article published in January 1988

Determination of haploid DNA sequences in humans: application to the glucocerebrosidase pseudogene

scientific article

Distribution of events of positive selection and population differentiation in a metabolic pathway: the case of asparagine N-glycosylation

scientific article

Dynamic sensitivity and nonlinear interactions influence the system-level evolutionary patterns of phototransduction proteins

scientific article

Dynamics of CAG repeat loci revealed by the analysis of their variability

scientific article published in January 2003

Estimating the ancestral recombinations graph (ARG) as compatible networks of SNP patterns

scientific article published in November 2008

Ethiopia: between Sub-Saharan Africa and western Eurasia

scientific article

Evidence for a genetic discontinuity between Neandertals and 24,000-year-old anatomically modern Europeans

scientific article

Evolution of the O alleles of the human ABO blood group gene

scientific article

Evolutionary analysis of genes of two pathways involved in placental malaria infection

scientific article published on 4 March 2008

Evolutionary dynamics of the human ABO gene

scientific article

Exploring the rate-limiting steps in visual phototransduction recovery by bottom-up kinetic modeling

scientific article published on 21 May 2013

Extreme individual marker FST values do not imply population-specific selection in humans: the NRG1 example

Extreme population differences across Neuregulin 1 gene, with implications for association studies.

scientific article published on January 2006

From genetic variation to population dynamics: insights into the biological understanding of humans

article

From the detection of population structure to the reconstruction of population history: the historical reading of the human genome

scientific article published on 22 July 2009

Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution

scientific article

Further confirmation for unknown archaic ancestry in Andaman and South Asia

article

Gene flow from North Africa contributes to differential human genetic diversity in southern Europe

scientific article

Genes as causes: scientific fact or simplistic thinking?

scientific article published in July 2000

Genetic adaptation of the antibacterial human innate immunity network

scientific article

Genetic analysis of the skeletal remains attributed to Francesco Petrarca

scientific article

Genetic and geographical variability in cystic fibrosis: evolutionary considerations.

scientific article

Genetic characterization of the ABO blood group in Neandertals

scientific article

Genetic distances and microsatellite diversification in humans

Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis

scientific article published on July 1996

Genetic markers in schizophrenia: ACP1, ESD, TF and GC polymorphisms

scientific article published in January 1990

Genetic structure of north-west Africa revealed by STR analysis.

scientific article

Genetic variation in prehistoric Sardinia

scientific article

Genetic variation of the 5-HT 2A receptor gene and bipolar affective disorder

article

Genetics. Human genetic variation, shared and private

scientific article

Genome, diversity, and origins: the Y chromosome as a storyteller

scientific article

Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis

scientific article published on 29 December 2015

Genome-wide diversity in the levant reveals recent structuring by culture

scientific article

Genome-wide signatures of male-mediated migration shaping the Indian gene pool

scientific article (publication date: 21 May 2015)

Genomes reveal marked differences in the adaptive evolution between orangutan species

Genomic affinities of two 7,000-year-old Iberian hunter-gatherers

scientific article

Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation

scientific article published on 25 July 2016

Genomic ancestry of North Africans supports back-to-Africa migrations

scientific article

Geographic homogeneity and non-equilibrium patterns of mtDNA sequences in Tuscany, Italy.

scientific article

Geographic patterns of mtDNA diversity in Europe

scientific article

Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22.

scientific article

Geographic variation in human mitochondrial DNA control region sequence: the population history of Turkey and its relationship to the European populations

scientific article published on October 1996

Georgian and kurd mtDNA sequence analysis shows a lack of correlation between languages and female genetic lineages

scientific article

Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles

scientific article published in March 2001

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies

article

Great ape genetic diversity and population history

scientific article published on 03 July 2013

Génétique et origine de la population basque

HLA class I and class II DNA typing and the origin of Basques

scientific article

HSP70-2 (HSPA1B) is associated with noncognitive symptoms in late-onset Alzheimer's disease

scientific article published in September 2003

Haplotype tagging efficiency in worldwide populations in CTLA4 gene

scientific article published on December 2005

Haptoglobin Phenotypes and Gene Frequencies in Bipolar Disorder: An Association Study in Family-History Subgroups

article

Heterogeneous rate of protein evolution in serotonin genes

scientific article published on 19 September 2007

Hierarchical boosting: a machine-learning framework to detect and classify hard selective sweeps in human populations

scientific article published on 26 August 2015

High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern Africa and the Iberian Peninsula

scientific article

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

scientific article published on 14 March 2007

Human F7 sequence is split into three deep clades that are related to FVII plasma levels

scientific article published on 16 November 2005

Human genome variation and the concept of genotype networks

scientific article

Human mitochondrial DNA sequence variation in the Moroccan population of the Souss area.

scientific article published in May 2001

Human mitochondrial DNA variation and the origin of Basques

scientific article published in January 1995

Human pseudogenes of the ABO family show a complex evolutionary dynamics and loss of function

scientific article

IRiS: construction of ARG networks at genomic scales

scientific article published on 15 July 2011

Identification of IRX1 as a Risk Locus for Rheumatoid Factor Positivity in Rheumatoid Arthritis in a Genome-Wide Association Study

scientific article published on 27 January 2016

Identification of a base pair substitution at the tetranucleotide tandem repeat locus DHFRP2 (AAAC)n in a worldwide survey.

scientific article published in January 1996

Identification of risk loci for Crohn's disease phenotypes using a genome-wide association study

scientific article published on 31 December 2014

Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean

scientific article

Influence of pathway topology and functional class on the molecular evolution of human metabolic genes

article

Influence of pathway topology and functional class on the molecular evolution of human metabolic genes

scientific article published in PLoS ONE

Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola

scientific article

Interrogating 11 Fast-Evolving Genes for Signatures of Recent Positive Selection in Worldwide Human Populations

article

Is There Selection for the Pace of Successive Inactivation of the arpAT Gene in Primates?

article

Is there adaptation in the human genome for taste perception and phase I biotransformation?

scientific article published in 2019

Isolated populations as treasure troves in genetic epidemiology: the case of the Basques

scientific article published on 6 May 2009

Joining the pillars of Hercules: mtDNA sequences show multidirectional gene flow in the western Mediterranean

scientific article

Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population

scientific article published on June 2003

Metabolic flux is a determinant of the evolutionary rates of enzyme-encoding genes

scientific article published on 19 September 2013

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

scientific article

Microsatellite variation and the differentiation of modern humans

scientific article published on 01 January 1997

Microsatellites provide evidence for Y chromosome diversity among the founders of the New World

scientific article

Minimizing recombinations in consensus networks for phylogeographic studies

scientific article

Minisatellite diversity supports a recent African origin for modern humans

article

Mitochondrial DNA from Myotragus balearicus, an extinct bovid from the Balearic Islands

scientific article

Mitochondrial DNA from pre-Columbian Ciboneys from Cuba and the prehistoric colonization of the Caribbean

scientific article

Mitochondrial DNA of an Iberian Neandertal suggests a population affinity with other European Neandertals

Mitochondrial DNA variation and the origin of the Europeans

scientific article

Molecular dating of caprines using ancient DNA sequences of Myotragus balearicus, an extinct endemic Balearic mammal

scientific article

Molecular evolution and network-level analysis of the N-glycosylation metabolic pathway across primates

scientific article published on 5 October 2010

Molecular phylogeny and evolution of the extinct bovid Myotragus balearicus

scientific article

Morphometric, Behavioral, and Genomic Evidence for a New Orangutan Species

erratum

Morphometric, Behavioral, and Genomic Evidence for a New Orangutan Species.

scientific article

MtDNA from extinct Tainos and the peopling of the Caribbean

scientific article

Natural Selection in the Great Apes

scientific article

Neandertal evolutionary genetics: mitochondrial DNA data from the iberian peninsula

scientific article

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

scientific article

Network-level and population genetics analysis of the insulin/TOR signal transduction pathway across human populations

scientific article

Neuropathologic findings in an aged albino gorilla

scientific article published in July 2008

Nuclear gene indicates coat-color polymorphism in mammoths

scientific article

Nucleotide substitution rates for the full set of mitochondrial protein-coding genes in Coleoptera

scientific article published on 10 February 2010

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees

scientific article

Origins, admixture and founder lineages in European Roma

scientific article published on 16 September 2015

PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations

scientific article published on 22 May 2002

Palaeogenetic evidence supports a dual model of Neolithic spreading into Europe

article

Paleogenomics in a temperate environment: shotgun sequencing from an extinct Mediterranean caprine

scientific article (publication date: 22 May 2009)

Palmar flexion creases in schizophrenia

PopHuman: the human population genomics browser

scientific article published on 20 October 2017

Population and genomic lessons from genetic analysis of two Indian populations.

scientific article published in July 2014

Population genetics of Y-chromosome short tandem repeats in humans

scientific article published in September 1997

Population history of Corsica: a linguistic and genetic analysis

scientific article published in May 1996

Population history of north Africa: evidence from classical genetic markers

scientific article

Population structure in copy number variation and SNPs in the CCL4L chemokine gene

scientific article published on 27 March 2008

Positive selection in MAOA gene is human exclusive: determination of the putative amino acid change selected in the human lineage

scientific article published on 3 September 2004

Possible increased risk for Alzheimer's disease associated with neprilysin gene

scientific article

Principal component analysis of gene frequencies and the origin of Basques

scientific article published in February 1994

Prion susceptibility and protective alleles exhibit marked geographic differences

scientific article published on July 2003

Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene

article

Radiation and phylogeography in the Japanese macaque, Macaca fuscata

scientific article published on March 2004

Recent Radiation of R-M269 and High Y-STR Haplotype Resemblance Confirmed

Recent common origin, reduced population size, and marked admixture have shaped European Roma genomes

scientific article published on 26 June 2020

Recent human evolution has shaped geographical differences in susceptibility to disease

scientific article

Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism

scientific article

Recent positive selection has acted on genes encoding proteins with more interactions within the whole human interactome

scientific article published on 2 April 2015

Recombination gives a new insight in the effective population size and the history of the old world human populations

scientific article published in September 2011

Recombination networks as genetic markers in a human variation study of the Old World

scientific article

Reconstruction of prehistory on the basis of genetic data

scientific article published on March 2000

Reply to 'No evidence for unknown archaic ancestry in South Asia'

scientific article published on 01 December 2018

Reply to — Age of the ΔF508 cystic fibrosis mutation

scholarly article by Xavier Estivill i Pallejà et al published November 1994 in Nature Genetics

Report of «IV Congreso Espanõl de Antropología Biológica»

Reproductive rates in families of schizophrenic patients in a case-control study

scientific article published on 01 March 1995

SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data

scientific article

Seasonality of birth in schizophrenia

scientific article published on 01 September 1989

Seasonality of marriages in Spanish and French parishes in the Cerdanya valley, eastern Pyrenees

scientific article

Selection in the Introgressed Regions of the Chimpanzee Genome

scientific article published on 4 April 2018

Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe.

scientific article published in August 1996

Sequence variability of a human pseudogene

scientific article

Sequences from first settlers reveal rapid evolution in Icelandic mtDNA pool

scientific article (publication date: 2009)

Serotonin transporter gene and risk for bipolar affective disorder: an association study in Spanish population

scientific article published in June 1998

Sex-specific migration patterns in Central Asian populations, revealed by analysis of Y-chromosome short tandem repeats and mtDNA.

scientific article

Signatures of selection in the human olfactory receptor OR5I1 gene

scientific article published on 2 November 2007

Similarity in recombination rate estimates highly correlates with genetic differentiation in humans

scientific article

Spatial patterns of cystic fibrosis mutation spectra in European populations

scholarly article by Oscar Lao et al published May 2003 in European Journal of Human Genetics

Structure of linkage disequilibrium in humans: genome factors and population stratification

scientific article published in January 2003

Ten simple rules for getting help from online scientific communities

scientific article

The Genetic History of the Iberian Peninsula: A Simulation

article published in 1993

The Mediterranean Paradox for Susceptibility Factors in Coronary Heart Disease Extends to Genetics

article

The Tyrosinase Gene in Gorillas and the Albinism of 'Snowflake'

article

The annotation and the usage of scientific databases could be improved with public issue tracker software

scientific article (publication date: 2010)

The annotation of the asparagine N-linked glycosylation pathway in the Reactome database

scientific article

The dawn of human matrilineal diversity

scientific article

The derived FOXP2 variant of modern humans was shared with Neandertals

scientific article (publication date: November 2007)

The genetics of East African populations: a Nilo-Saharan component in the African genetic landscape

scientific article (publication date: 28 May 2015)

The genetics of pre-Roman Iberian Peninsula: A mtDNA study of ancient Iberians

article

The genetics of the pre-Roman Iberian Peninsula: a mtDNA study of ancient Iberians.

scientific article

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

scientific article

The origin of European cattle: evidence from modern and ancient DNA

scientific article

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

scientific article

The portability of tagSNPs across populations: a worldwide survey

scientific article published on 8 February 2006

The prion protein gene in humans revisited: lessons from a worldwide resequencing study

scientific article

The shaping of immunological responses through natural selection after the Roma Diaspora

scientific article published on 30 September 2020

Tracking down human contamination in ancient human teeth

scientific article published on 29 June 2006

Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations

scientific article

Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes

scientific article

Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient central Asians

scientific article

VCF2Networks: applying genotype networks to single-nucleotide variants data

scientific article

Variability in the serotonin transporter gene and increased risk for major depression with melancholia

article

Variation in G + C-content and codon choice: differences among synonymous codon groups in vertebrate genes

scientific article published on August 1989

Variation in estimated recombination rates across human populations

article

Variation in short tandem repeats is deeply structured by genetic background on the human Y chromosome

scientific article

Variation of the prion gene in chimpanzees and its implication for prion diseases

scientific article published in January 2004

Why names

scientific article

Worldwide genetic analysis of the CFTR region

scientific article

Worldwide genetic variation in dopamine and serotonin pathway genes: implications for association studies

scientific article published on October 2008

Y chromosome STR haplotypes in four populations from northwest Africa

scientific article

Y chromosome sequence variation and the history of human populations

scientific article (publication date: November 2000)

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language

scientific article

Y-chromosomal diversity in Lebanon is structured by recent historical events

scientific article

Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese

scientific article published on 25 April 2017

Y-chromosome diversity in Bantu and Pygmy populations from Central Africa

Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency

scientific article (publication date: 18 February 2015)

mtDNA analysis of the Galician population: a genetic edge of European variation

scientific article

mtDNA hypervariable region II (HVII) sequences in human evolution studies

scientific article

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