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List of works by Lluís Quintana-Murci

A Call for Blood-In Human Immunology

scientific article published on 01 June 2019

A Comprehensive Assessment of Demographic, Environmental and Host Genetic Associations with Gut Microbiome Diversity in Healthy Individuals

A Genome-Wide Perspective of Human Diversity and Its Implications in Infectious Disease

scientific article published on January 1, 2013

A comprehensive assessment of demographic, environmental, and host genetic associations with gut microbiome diversity in healthy individuals

scientific article published on 13 September 2019

A genetic variant controls interferon-β gene expression in human myeloid cells by preventing C/EBP-β binding on a conserved enhancer

scientific article published on 04 November 2020

A genomic portrait of the genetic architecture and regulatory impact of microRNA expression in response to infection

scientific article

A high frequency of Y chromosome deletions in males with nonidiopathic infertility

scientific article published on 01 October 1999

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

scientific article published on 20 April 2022

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

scientific article published on December 2008

A population genetics perspective of the Indus Valley through uniparentally-inherited markers

scientific article

Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism

scientific article (publication date: April 2000)

Adaptive, convergent origins of the pygmy phenotype in African rainforest hunter-gatherers.

scientific article

An epigenetic clock analysis of race/ethnicity, sex, and coronary heart disease

scientific article

Associations between consumption of dietary fibers and the risk of cardiovascular diseases, cancers, type 2 diabetes, and mortality in the prospective NutriNet-Santé cohort

scientific article published on 05 May 2020

Associations between untargeted plasma metabolomic signatures and gut microbiota composition in the <i>Milieu Intérieur</i> population of healthy adults

scientific article published on 10 December 2020

Associations between usual diet and gut microbiota composition: results from the Milieu Intérieur cross-sectional study

scientific article published on 01 May 2019

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Automated flow cytometric analysis across large numbers of samples and cell types

scientific article published on 7 January 2015

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

scientific article published on 27 December 2018

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

scientific article published on 02 June 2020

Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements

scientific article (publication date: 12 September 2012)

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

scientific article (publication date: March 2004)

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

scientific article

Correction: The Genographic Project Public Participation Mitochondrial DNA Database.

scientific article published on 28 September 2007

Counting Oceanians of Non-European, Non-Asian Descent (ONENA) in the South Pacific to Make Them Count in Global Health

scientific article published on 09 August 2019

DC-SIGN interacts with Mycobacterium leprae but sequence variation in this lectin is not associated with leprosy in the Pakistani population

scientific article published in January 2006

DC‐SIGNRNeck‐Region Polymorphisms and HIV‐1 Susceptibility: From Population Stratification to a Possible Advantage of the 7/5 Heterozygous Genotype

article

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes

scientific article

Deconvolution of the Response to Bacillus Calmette-Guérin Reveals NF-κB-Induced Cytokines As Autocrine Mediators of Innate Immunity

scientific article

Defining the genetic and evolutionary architecture of alternative splicing in response to infection

scientific article published on 11 April 2019

Demeter's legacy: rapid changes to our genome imposed by diet

scientific article published on 11 January 2008

Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms

scientific article

Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations

scientific article

Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America

scientific article

Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges

scientific article published on 27 December 2017

Diversity in immunogenomics: the value and the challenge

scientific article

Diversity of KIR, HLA Class I, and Their Interactions in Seven Populations of Sub-Saharan Africans

scientific article published on 27 March 2019

Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure

scientific article published on 01 June 2001

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

scientific article published on 19 September 2016

Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis

scientific article published on October 2008

Editorial Overview: Immunogenetics and transplantation: Bringing evolution and genomics to human immunology

scholarly article by Luis B Barreiro & Lluís Quintana-Murci published October 2014 in Current Opinion in Immunology

Editorial overview: Evolutionary and systems immunology - methods to understand human immune system variation

scientific article published on 01 August 2020

Editorial overview: The history, geography and adaptation of human genes: A tribute to L. Luca Cavalli-Sforza

scientific article published on 01 December 2018

Effects of transmission of Y chromosome AZFc deletions

scientific article published in The Lancet

Evidence for polygenic adaptation to pathogens in the human genome

scientific article published on 26 April 2013

Evidence of pre-Roman tribal genetic structure in Basques from uniparentally inherited markers

scientific article

Evolution of the TIR domain-containing adaptors in humans: swinging between constraint and adaptation

scientific article published on 9 June 2011

Evolutionary and population (epi)genetics of immunity to infection

scientific article published on 13 April 2020

Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense

scientific article

Evolutionary genetic dissection of human interferons

scientific article published on 12 December 2011

Evolutionary genetics as a tool to target genes involved in phenotypes of medical relevance

scientific article

Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity

scientific article published on 29 March 2011

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

scientific article published on 2 August 2006

Evolutionary trajectories of primate genes involved in HIV pathogenesis

scientific article published on 2 September 2009

Exploring the Genetic Basis of Human Population Differences in DNA Methylation and their Causal Impact on Immune Gene Regulation

article

Exploring the genetic basis of human population differences in DNA methylation and their causal impact on immune gene regulation

article

Exploring the occurrence of classic selective sweeps in humans using whole-genome sequencing data sets

scientific article

Formulating a historical and demographic model of recent human evolution based on resequencing data from noncoding regions

scientific article

From evolutionary genetics to human immunology: how selection shapes host defence genes

scientific article published on December 2009

From social to genetic structures in central Asia

scientific article

From surnames to the history of Y chromosomes: the Sardinian population as a paradigm

scientific article (publication date: October 2003)

Functional analysis via standardized whole-blood stimulation systems defines the boundaries of a healthy immune response to complex stimuli

scientific article published on March 2014

Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family

scientific article

Functional consequences of archaic introgression and their impact on fitness

scientific article published on 02 January 2020

Further characteristics of proto-European Y chromosomes

Gene Losses in the Human Genome

scientific article published on February 17, 2012

Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations

scientific article

Genetic and demographic implications of the Bantu expansion: insights from human paternal lineages

scientific article (publication date: July 2009)

Genetic and epigenetic variation of human populations: An adaptive tale

scientific article published on 13 May 2016

Genetic diversity and the emergence of ethnic groups in Central Asia

scientific article

Genetic factors and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

article

Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis

scientific article published in June 2003

Genetic traces of east-to-west human expansion waves in Eurasia

Genetic, Linguistic and Archaeological Perspectives on Human Diversity in Southeast Asia

scientific article published in November 2002

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

scientific article (publication date: 21 May 2015)

Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

scientific article

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

scientific article

HTLV-2 in Central Africa: HTLV-2 subtype B strains similar to those found in Amerindian tribes are endemic in Bakola Pygmies from south Cameroon but not in surrounding Bantus and Baka Pygmies

scientific article published on 6 June 2011

HTLV-2B strains, similar to those found in several Amerindian tribes, are endemic in central African Bakola Pygmies

scientific article published in May 2011

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

scientific article published on 08 May 2019

Horizontal Transfer of a Virulence Operon to the Ancestor of Mycobacterium tuberculosis

article

Host and viral genetic diversity can help explain mortality during the 1918–21 influenza pandemic in the Pacific region

scholarly article by Arnaud Tarantola et al published August 2018 in Lancet Infectious Diseases

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

scientific article published on 01 December 2018

Human Immunology through the Lens of Evolutionary Genetics

scientific article published on 01 March 2019

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

scientific article published on 05 December 2019

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

scientific article published on 03 December 2020

Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics

scientific article published on January 2011

Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years

scientific article published in 2021

Human genetic and immunological determinants of critical COVID-19 pneumonia

scientific article published on 28 January 2022

Human genetic data reveal contrasting demographic patterns between sedentary and nomadic populations that predate the emergence of farming

scientific article

Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

article

Human herpesvirus 8, Southern Siberia

scientific article published on March 2010

Human thymopoiesis is influenced by a common genetic variant within the TCRA-TCRD locus

scientific article published on 01 September 2018

IRF4 haploinsufficiency in a family with Whipple's disease.

scientific article

Identification of a Y chromosome haplogroup associated with reduced sperm counts

scientific article published on 01 September 2001

Immunité innée et sélection naturelle : Le paradigme de la région génomique DC-SIGN / L-SIGN

Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases

scientific article

Immunology taught by human genetics

scientific article published on 03 October 2013

Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation

scientific article published on 30 May 2019

In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populations

scientific article

Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data set

scientific article published in April 2009

Innate immune pathways act synergistically to constrain RNA virus evolution in Drosophila melanogaster

scientific article published on 10 March 2022

Insights into the demographic history of African Pygmies from complete mitochondrial genomes

scientific article

Lactase persistence in central Asia: phenotype, genotype, and evolution.

scientific article

Length Variation of DC-SIGN and L-SIGN Neck-Region has no Impact on Tuberculosis Susceptibility

scientific article published on 04 December 2006

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

scientific article

Living in an adaptive world: Genomic dissection of the genus Homo and its immune response

scientific article published on 28 March 2017

Male reproductive function and the human Y chromosome: is selection acting on the Y?

scientific article

Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers

scientific article

Might Interspecific Interactions between Pathogens Drive Host Evolution? The Case of Plasmodium Species and Duffy-Negativity in Human Populations

scientific article published on 17 October 2016

Mitochondrial DNA inheritance in patients with deleted mtDNA.

scientific article published on September 2001

Molecular epidemiology of the HHV-8 K1 gene from Moroccan patients with Kaposi's sarcoma

scientific article published on 21 June 2006

Mother-to-child transmitted viral diseases: from transmission to children care. Abstracts of the Fifth Dominique Dormont International Conference. Paris, France. March 26-28, 2009

article

MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool

scientific article published in May 2000

MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population

scientific article

Multiple advantageous amino acid variants in the NAT2 gene in human populations

scientific article

Natural selection contributed to immunological differences between hunter-gatherers and agriculturalists

scientific article published on 29 July 2019

Natural selection has driven population differentiation in modern humans

scientific article

Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors

scientific article published on 23 February 2018

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

scientific article published on 01 January 2021

Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans

scientific article

New insights into human immunity from ancient genomics

scientific article published in 2021

Origine et évolution des chromosomes sexuels des mammifères

scientific article published on 01 January 2001

Origins and genetic diversity of pygmy hunter-gatherers from Western Central Africa

scientific article published on 5 February 2009

Origins, admixture and founder lineages in European Roma

scientific article published on 16 September 2015

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

scientific article

Polygenic adaptation and convergent evolution on growth and cardiac genetic pathways in African and Asian rainforest hunter-gatherers

article published in the Proceedings of the National Academy of Sciences of the United States of America

Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia

scientific article

Population genetic tools for dissecting innate immunity in humans

scientific article

Population genetics and human immunity: the interferon paradigm

scientific article

Population variation in NAIP functional copy number confers increased cell death upon Legionella pneumophila infection

scientific article published on 23 October 2011

Population variation in miRNAs and isomiRs and their impact on human immunity to infection

scientific article published on 30 July 2020

Positively selected G6PD-Mahidol mutation reduces Plasmodium vivax density in Southeast Asians

scientific article

Preserving immune diversity through ancient inheritance and admixture

scientific article

Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?

scientific article (publication date: July 2000)

Promoter and neck region length variation of DC-SIGN is not associated with susceptibility to tuberculosis in Tunisian patients

scientific article

Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis

scientific article

Protective role of DC-SIGN (CD209) neck-region alleles with <5 repeat units in HIV-1 transmission.

scientific article published in July 2008

Publisher Correction: Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors

scientific article published on 01 June 2018

Quantitative genetic analysis deciphers the impact of cis and trans regulation on cell-to-cell variability in protein expression levels

scientific article published on 13 March 2020

Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure

scientific article published on 28 February 2019

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

scientific article published on 26 June 2020

Reply to Bortolini et al.

scientific article published in September 2004

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

scientific article

Semi-automated and standardized cytometric procedures for multi-panel and multi-parametric whole blood immunophenotyping

scientific article published on 06 January 2015

Sequencing Y chromosomes resolves discrepancy in time to common ancestor of males versus females

scientific article

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

scientific article published on 01 December 2000

Sex-specific genetic structure and social organization in Central Asia: insights from a multi-locus study

scientific article

Sexual inequality in tuberculosis

scientific article

Signatures of purifying and local positive selection in human miRNAs

scientific article published on 19 February 2009

Sociocultural behavior, sex-biased admixture, and effective population sizes in Central African Pygmies and non-Pygmies

scientific article

Standardized Whole-Blood Transcriptional Profiling Enables the Deconvolution of Complex Induced Immune Responses.

scientific article published on 24 August 2016

Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture.

scientific article published in April 2010

Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixture

scientific article

Study of human RIG-I polymorphisms identifies two variants with an opposite impact on the antiviral immune response

scientific article

Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene

scientific article published on July 2006

Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome

scientific article published in September 1998

TLR3 deficiency in patients with herpes simplex encephalitis

scientific article

The 49a,f haplotype 11 is a new marker of the EU19 lineage that traces migrations from northern regions of the Black Sea

scientific article (publication date: September 2001)

The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times.

scientific article

The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times

scientific article

The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan

scientific article published in November 2017

The Genographic Project public participation mitochondrial DNA database

scientific article published in June 2007

The Human Y Chromosome: The Biological Role of a “Functional Wasteland”

scientific article

The INSL4 gene maps close to WI-5527 at 9p24.1-->p23.3 clustered with two relaxin genes and outside the critical region for the monosomy 9p syndrome.

scientific article published in January 1998

The Milieu Intérieur study - an integrative approach for study of human immunological variance

scientific article published on 3 January 2015

The Red Queen's long race: human adaptation to pathogen pressure

scientific article

The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews

article

The dawn of human matrilineal diversity

scientific article

The demographic and adaptive history of central African hunter-gatherers and farmers

The demographic history and mutational load of African hunter-gatherers and farmers

scientific article published on 12 March 2018

The epigenomic landscape of African rainforest hunter-gatherers and farmers

scientific article

The evolutionary history of the CD209 (DC-SIGN) family in humans and non-human primates

scientific article

The evolutionary landscape of cytosolic microbial sensors in humans

scientific article

The fingerprint of phantom mutations in mitochondrial DNA data

scientific article

The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula

scientific article

The genetic or mythical ancestry of descent groups: lessons from the Y chromosome

scientific article

The genetics of innate immunity sensors and human disease

scientific article published on April 2013

The heritage of pathogen pressures and ancient demography in the human innate-immunity CD209/CD209L region

scientific article

The human Y chromosome: function, evolution and disease

scientific article

The human gene connectome as a map of short cuts for morbid allele discovery

scientific article published on 18 March 2013

The human gene damage index as a gene-level approach to prioritizing exome variants

scientific article

The impact of agricultural emergence on the genetic history of African rainforest hunter-gatherers and agriculturalists

scientific article published in January 2014

The impact of natural selection on health and disease: uses of the population genetics approach in humans

scientific article published on 21 January 2013

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event

scientific article

The mutation significance cutoff: gene-level thresholds for variant predictions

scientific article published on January 2016

The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain

scientific article

The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility

article

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

scientific article published on 16 May 2022

The role played by natural selection on Mendelian traits in humans

scientific article published on December 1, 2010

The selective footprints of viral pressures at the human RIG-I-like receptor family.

scientific article

Towards a crucial role for DC-SIGN in tuberculosis and beyond

scholarly article by Olivier Neyrolles et al published September 2006 in Trends in Microbiology

Trends in DNA Methylation with Age Replicate Across Diverse Human Populations

scientific article published on 22 May 2017

Trends in DNA methylation with age replicate across diverse human populations

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Understanding inherited disease through human migrations: a south-west Asian perspective

scientific article published in January 2002

Understanding rare and common diseases in the context of human evolution

scientific article

Uniparental markers in Italy reveal a sex-biased genetic structure and different historical strata

scientific article

Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor

scientific article

Y chromosome haplogroups in autistic subjects

scientific article published in January 2002

Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome?

scientific article

Y chromosome haplotypes and testicular cancer in the English population

scientific article published in March 2003

Y chromosome polymorphisms in medicine

scientific article

Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco

scientific article

Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations

scientific article (publication date: 14 January 2015)

Y-chromosome lineages trace diffusion of people and languages in southwestern Asia

scientific article

Y-chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study

scientific article

bacterial infection drives the expression dynamics of microRNAs and their isomiRs

scientific article