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List of works by Francesc Calafell

A Common Haplotype Associated with the Basque 2362AG-TCATCT Mutation in the Muscular Calpain-3 Gene

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 haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations

scientific article published on June 1998

A highly divergent mtDNA sequence in a Neandertal individual from Italy

article

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus

A natural history of FUT2 polymorphism in humans.

scientific article published in June 2009

A new method for extracting skin microbes allows metagenomic analysis of whole-deep skin

scientific article

A new method to reconstruct recombination events at a genomic scale

scientific article

A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y-chromosome lineages

scientific article

A recent shift from polygyny to monogamy in humans is suggested by the analysis of worldwide Y-chromosome diversity

scientific article

Admixture and sexual bias in the population settlement of La Réunion Island (Indian Ocean).

scientific article

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

scientific article

Advanced glossary on genetic epidemiology.

scientific article published on August 2003

African signatures of recent positive selection in human FOXI1

scientific article published in 2010

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

Allele frequencies of markers LDLR, GYPA, D7S8, HBGG, GC, HLA-DQA1 and D1S80 in the general and minority populations of Costa Rica

scientific article published on 01 December 2001

Allelic and genotypic associations of DRD2 TaqI A polymorphism with heroin dependence in Spanish subjects: a case control study

scientific article published in June 2007

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

scientific article

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 evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene

scientific article published on 4 June 2009

Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ

scientific article published on 4 August 2017

Ancient DNA of Phoenician remains indicates discontinuity in the settlement history of Ibiza

scientific article published in Scientific Reports

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

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

Autosomal genetics and Y-chromosome haplogroup L1b-M317 reveal Mount Lebanon Maronites as a persistently non-emigrating population

scientific article published on 04 December 2020

Basic glossary on genetic epidemiology

scientific article

Basic molecular genetics for epidemiologists.

scientific article

Blood biochemistry reflects seasonal nutritional and reproductive constraints in the eurasian badger (Meles meles).

scientific article

Brief communication: mtDNA variation in North Cameroon: lack of Asian lineages and implications for back migration from Asia to sub-Saharan Africa

scientific article published on November 2005

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

scientific article

Characterization of the Iberian Y chromosome haplogroup R-DF27 in Northern Spain

scientific article published on 29 December 2016

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease

scientific article published in June 2008

Classifying humans

scientific article

Combined epigenetic and intraspecific variation of the DRD4 and SERT genes influence novelty seeking behavior in great tit Parus major

scientific article published on May 2015

Comparative Genetics of Functional Trinucleotide Tandem Repeats in Humans and Apes

article

Consistency of metagenomic assignment programs in simulated and real data.

scientific article

Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

scientific article published in April 1997

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

scientific article

Detection of major genes underlying several quantitative traits associated with a common disease using different ascertainment schemes

scientific article published in 1997

Direct squencing from the minimal number of DNA molecules needed to fill a 454 picotiterplate

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

European Roma groups show complex West Eurasian admixture footprints and a common South Asian genetic origin

scientific article published on 23 September 2019

Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene

scientific article

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

scientific article

Evolutionary dynamics of the human ABO gene

scientific article

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

FABSIM: a software for generating FST distributions with various ascertainment biases

scientific article

Fragmentation of contaminant and endogenous DNA in ancient samples determined by shotgun sequencing; prospects for human palaeogenomics

scientific article (publication date: 2011)

From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks

article

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

article

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

scientific article

Genealogy reconstruction from short tandem repeat genotypes in an Amazonian population

scientific article published in February 1999

Genetic Heterogeneity in Algerian Human Populations

scientific article

Genetic adaptation of the antibacterial human innate immunity network

scientific article

Genetic analysis of the presumptive blood from Louis XVI, King of France

scientific article

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

scientific article (publication date: July 2009)

Genetic comparison of the head of Henri IV and the presumptive blood from Louis XVI (both Kings of France).

scientific article

Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba

scientific article

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

scientific article

Genetic studies of the Roma (Gypsies): a review

scientific article

Genetics and the Reconstruction of African Population History

article

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

scientific article

Geographic patterns of mtDNA diversity in Europe

scientific article

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

scientific article

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

scientific article

HLA evidence for the lack of genetic heterogeneity in Basques

article

Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms

scientific article

Haplotype evolution and linkage disequilibrium: A simulation study

scientific article

Haplotype tagging efficiency in worldwide populations in CTLA4 gene

scientific article published on December 2005

High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis

scientific article published on 20 February 2003

High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions

scientific article published on 01 January 2002

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

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

scientific article published on 16 November 2005

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 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 a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

scientific article published in August 2005

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

scientific article

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

scientific article

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

Linguistic and maternal genetic diversity are not correlated in Native Mexicans

scientific article published on 04 June 2009

Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease

scientific article published on 11 December 2014

Micro-phylogeographic and demographic history of Portuguese male lineages

scientific article (publication date: March 2006)

Microsatellite Variation and Evolutionary History of PCDHX/Y Gene Pair Within the Xq21.3/Yp11.2 Hominid-Specific Homology Block

article

Minimizing recombinations in consensus networks for phylogeographic studies

scientific article

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

scientific article

Mitochondrial DNA heterogeneity in Tunisian Berbers

scientific article

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

Mitochondrial DNA reveals a strong phylogeographic structure in the badger across Eurasia

scientific article published in April 2006

Mitochondrial DNA structure in North Africa reveals a genetic discontinuity in the Nile Valley

scientific article

Mitochondrial DNA variation and the origin of the Europeans

scientific article

MtDNA from extinct Tainos and the peopling of the Caribbean

scientific article

Mutation rates at Y chromosome specific microsatellites

Names, Ethnicity, and Populations. Tracing Identity in Space. by PabloMateos. Berlin, Heidelberg: Springer-Verlag. 2014. 267 pp. ISBN 978-3-642-45412-7. $79.95 (hardcover)

article

Neandertal evolutionary genetics: mitochondrial DNA data from the iberian peninsula

scientific article

No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity

scientific article

On the origins and admixture of Malagasy: new evidence from high-resolution analyses of paternal and maternal lineages

scientific article

Origins and divergence of the Roma (gypsies)

scientific article

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

scientific article published on 22 May 2002

Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns

scientific article (publication date: July 2006)

Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data.

scientific article published on 24 June 2019

Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages

scientific article

People from Ibiza: an unexpected isolate in the Western Mediterranean

scientific article published on 14 February 2019

Phylogeography of the human mitochondrial L1c haplogroup: Genetic signatures of the prehistory of Central Africa

article

Population genetics of Y-chromosome short tandem repeats in humans

scientific article published in September 1997

Population genetics of a functional variant of the dopamine beta-hydroxylase gene (DBH).

scientific article

Population history of Corsica: a linguistic and genetic analysis

scientific article published in May 1996

Potential transmission of human polyomaviruses through the gastrointestinal tract after exposure to virions or viral DNA

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

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

Recent human evolution has shaped geographical differences in susceptibility to disease

scientific article

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

Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective

scientific article

Reconstruction of prehistory on the basis of genetic data

scientific article published on March 2000

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

scientific article

STR data for 21 loci in northwestern Africa

scientific article

Satisfaction With Methadone and Opioid Receptor Genes Polymorphisms in Treatment-Refractory Heroin-Dependent Patients

scientific article

Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3

article

Sequence diversity of the Rh blood group system in Basques

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 variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels

scientific article

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

scientific article

Short tandem repeat polymorphism evolution in humans

scientific article published in January 1998

Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver

scientific article published on 17 November 2015

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

Staphylococcus prevails in the skin microbiota of long-term immunodeficient mice.

scientific article

Statistical power analysis of neutrality tests under demographic expansions, contractions and bottlenecks with recombination.

scientific article published on May 2008

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

scientific article published in January 2003

Surname and Y chromosome in Southern Europe: a case study with Colom/Colombo

scientific article published on 17 August 2011

TNFA-TNFB haplotypes modify susceptibility to type I diabetes mellitus independently of HLA class II in a Moroccan population

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 Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research

scientific article published on 5 November 2016

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

scientific article

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

scientific article

The place of metropolitan France in the European genomic landscape

scientific article published on 07 April 2020

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 probability distribution of the number of loci indicating exclusion in a core set of STR markers

article

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics

scientific article

The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus

scientific article published on April 2004

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

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

Whole Y-chromosome sequences reveal an extremely recent origin of the most common North African paternal lineage E-M183 (M81).

scientific article published on 21 November 2017

Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation

scientific article published on 26 October 2021

Why names

scientific article

Worldwide genetic analysis of the CFTR region

scientific article

Y chromosome STR haplotypes in four populations from northwest Africa

scientific article

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

scientific article published on 25 April 2017

Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings

scientific article published in 2012

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

scientific article (publication date: 18 February 2015)

Y-chromosome diversity in Native Mexicans reveals continental transition of genetic structure in the Americas

scientific article

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

scientific article

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