List of works by Ángel Carracedo

"New turns from old STaRs": enhancing the capabilities of forensic short tandem repeat analysis

scientific article published on 16 July 2014

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

scientific article

16 STR data of a Greek population

scientific article

17 STR data (AmpF/STR Identifiler and Powerplex 16 System) from Cabinda (Angola).

scientific article

29 Y-chromosome SNP analysis in European populations

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

scientific article published on 9 April 2015

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article

A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations

scientific article

A SNaPshot of next generation sequencing for forensic SNP analysis

scientific article

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

scientific article

A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results.

scientific article published on 28 January 2014

A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12.

scientific article

A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis

scientific article

A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia

scientific article

A compact population analysis test using 32 SNPs with highly diverse allele frequency distributions

A critical reassessment of the role of mitochondria in tumorigenesis

scientific article

A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy.

scientific article published on 5 March 2013

A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

scientific article published on January 2014

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.

scientific article published on 12 November 2013

A highly variable STR at the D12S391 locus

scientific article published on 01 January 1996

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novoSOX5deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

scientific article published on 02 April 2015

A melting pot of multicontinental mtDNA lineages in admixed Venezuelans

scientific article

A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR

article

A multiplex PCR design for simultaneous genotyping of X chromosome short tandem repeat markers

A multiplex assay with 52 single nucleotide polymorphisms for human identification

scientific article

A new SNP assay for identification of highly degraded human DNA.

scientific article

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system

scientific article published in May 2010

A new multiplex for human identification using insertion/deletion polymorphisms

scientific article published in November 2009

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

scientific article published in February 2011

A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.

scientific article

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

scientific article (publication date: July 2014)

A pathway-based association study reveals variants from Wnt signalling genes contributing to asthma susceptibility

scientific article published on 12 January 2017

A pharmacogenetics study of TPMT and ITPA genes detects a relationship with side effects and clinical response in patients with inflammatory bowel disease receiving Azathioprine

scientific article published on September 2011

A replication study of JTC bias, genetic liability for psychosis and delusional ideation

scientific article published on 13 October 2020

A report of an international collaborative experiment to demonstrate the uniformity obtainable using DNA profiling techniques

scientific article published on 01 February 1992

A silver staining method for the detection of polymorphic proteins in minute bloodstains after isoelectric focusing

scientific article published on 01 November 1983

A simulation-based approach to evaluate population stratification in Argentina

article

A strong genetic association between the tumor necrosis factor locus and proliferative vitreoretinopathy: the retina 4 project.

scientific article published on 21 July 2010

A study of East Timor variability using the SNPforID 52-plex SNP panel

scientific article published in January 2011

A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.

scientific article published on 29 June 2014

A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.

scientific article

ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy

scientific article published on 12 November 2016

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

scientific article

Alcohol and breast cancer tumor subtypes in a Spanish Cohort

scientific article

Alcohol consumption and survival after a breast cancer diagnosis: a literature-based meta-analysis and collaborative analysis of data for 29,239 cases

scientific article

Allele frequencies of 20 STRs from Northwest Spain (Galicia)

article

Allele frequencies of fifteen STRs in a representative sample of the Italian population

scientific article published on 20 June 2008

Allele frequencies of the five new European Standard Set (ESS) STRs and 15 established STRs in a Turkish population.

scientific article

Allele frequency distribution of four PCR-amplified loci in the Spanish population

scientific article published on 01 January 1995

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders.

scientific article

An overview of STRUCTURE: applications, parameter settings, and supporting software

scientific article published on 29 May 2013

Analysis of 10 X-STRs in three African populations

scientific article published on 6 March 2007

Analysis of 29 Y-chromosome SNPs in a single multiplex useful to predict the geographic origin of male lineages

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects

scientific article published in October 2003

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

scientific article

Analysis of STR loci in Cartagena, a Caribbean city of Colombia

scientific article published on 15 July 2005

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects

article

Analysis of Y chromosome lineages in native South American population

Analysis of a claimed distant relationship in a deficient pedigree using high density SNP data

scientific article

Analysis of artificially degraded DNA using STRs and SNPs--results of a collaborative European (EDNAP) exercise.

scientific article

Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel.

scientific article

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

Analysis of the SNPforID 52-plex markers in four Native American populations from Venezuela

scientific article published on 27 March 2012

Ancestry analysis in the 11-M Madrid bomb attack investigation

scientific article

Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians

article

Applications of MALDI-TOF MS to large-scale human mtDNA population-based studies

scientific article

Asesoramiento genético en Neurología: un problema complejo que necesita regulación

Assessing microsatellite instability with semiautomated fluorescent technology: application to the analysis of primary brain tumors.

scientific article published in May 2000

Association Study of Nonsynonymous Single Nucleotide Polymorphisms in Schizophrenia

article by Noa Carrera et al published January 2012 in Biological Psychiatry

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: results from a multi-centric study

scientific article published on 21 January 2014

Association between SNPs of Metalloproteinases and Prostaglandin F2α Receptor Genes and Latanoprost Response in Open-Angle Glaucoma

scientific article

Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.

scientific article published on 15 August 2009

Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients.

scientific article

Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

scientific article published on 27 May 2016

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

scientific article published on 16 June 2009

Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction

scientific article published on 3 April 2007

Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer

scientific article

Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced by nonsteroidal anti-inflammatory drugs

scientific article

Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women

scientific article published on 22 January 2010

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Autosomal STR genetic variation in negroid Chocó and Bogotá populations

scientific article published in October 2001

Autosomal microsatellite data from Northwestern Colombia

scientific article

Autosomic STR population data in two Caribbean samples from Colombia

scientific article

BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations

scientific article published on 16 November 2012

BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency.

scientific article

BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data

scientific article

BeyondBRCA1andBRCA2wild-type breast and/or ovarian cancer families: germline mutations inTP53andPTEN

scientific article published on 23 November 2009

Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model

article

Brain activation of the defensive and appetitive survival systems in obsessive compulsive disorder

scientific article published in June 2015

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood

scientific article published on 13 August 2015

Building a forensic ancestry panel from the ground up: The EUROFORGEN Global AIM-SNP set.

scientific article

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

scientific article

CYP2D6 genotyping by liquid chromatography-electrospray ionization mass spectrometry.

scientific article

Candidate predisposing germline copy number variants in early onset colorectal cancer patients

scientific article published on 25 November 2016

Case report: identification of skeletal remains using short-amplicon marker analysis of severely degraded DNA extracted from a decomposed and charred femur

scientific article

Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins ⬇️

scientific article

Casework application of a stand-alone pentaplex assay of extended-ESS STRs

scientific article published on 04 February 2013

Cerebral and cerebellar MRI volumes in Williams syndrome

scientific article published on 14 February 2014

Characterization of CYP1A2, CYP2C19, CYP3A4 and CYP3A5 polymorphisms in South Brazilians

scientific article published on 18 January 2014

Characterization of Single Nucleotide Polymorphisms of Cytochrome P450 in an Australian Deceased Sample

article

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis

scientific article published on 01 April 2012

Characterization of U.S. population samples using a 34plex ancestry informative SNP multiplex

Charting the ancestry of African Americans

scientific article

Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature

scientific article

Clinal variation of YAP+ Y-chromosome frequencies in Western Iberia.

scientific article published in December 2000

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

scientific article published on 21 April 2015

Cognitive functioning in children and adults with Smith-Magenis syndrome

scientific article published on 19 April 2012

Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings

scientific article published on 07 January 2021

Colombian results of the interlaboratory Quality Control Exercise 2009–2010

Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: a two-stage case-control study

scientific article

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

scientific article published on 02 May 2020

Common variant at 16p11.2 conferring risk of psychosis.

scientific article

Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk

scientific article published on 10 January 2010

Common variants conferring risk of schizophrenia

scientific article

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

scientific article published on 7 June 2021

Comparison between isoelectric focusing methods for the detection of orosomucoid phenotypes

scientific article published on 01 June 1988

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer

scientific article published on 25 August 2011

Comparison of different electrophoretic methods for digital typing of the MS32 (D1S8) locus

scientific article

Comparison of the genetic background of different Colombian populations using the SNPforID 52plex identification panel

scientific article published on 12 May 2013

Completion of a worldwide reference panel of samples for an ancestry informative Indel assay

scientific article

Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

scientific article published on 6 January 2016

Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles

scientific article

Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature

scientific article published on June 1997

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article published on 16 February 2017

Correction: New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0.

scientific article published on 27 April 2010

Correlation between IEF and SDS-PAGE phenotypes of keratins

scientific article published on 01 January 1990

Correlation between native and desialyzed forms of orosomucoid

scientific article published on 01 January 1988

Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers

scientific article

DNA Commission of the International Society for Forensic Genetics (ISFG): recommendations regarding the role of forensic genetics for disaster victim identification (DVI).

scientific article

DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing.

scientific article published in January 2000

DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis

scientific article

DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome short tandem repeats

article

DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures.

scientific article published on 5 June 2006

DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

scientific article

DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA typing.

scientific article published in May 2000

DNA databases for criminal investigation purposes: technical aspects and ethical-legal problems

scientific article

DNA mixtures in forensic casework: a 4-year retrospective study

scientific article published in July 2003

DNA recommendations 1997 of the International Society for Forensic Genetics

scientific article published on January 1998

Data for nine autosomal STRs markers (CSF1PO, D13S31, D16S539, D7S820, F13A01, FESFPS, TH01, vWA, TPOX) from Venezuela

scientific article

Data for nine autosomal STRs markers from Valencia (East Mediterranean coast of the Iberian Peninsula).

scientific article

Databases for neurogenetics: introduction, overview, and challenges

scientific article published on September 2012

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

scientific article published on July 2011

Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis

scientific article published in July 2015

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Detection of polymorphisms of human DNA after polymerase chain reaction by miniaturized SDS-PAGE.

scientific article

Determination of phosphoglucomutase (PGM1), acid phosphatase (ACP), and esterase D (ESD) in human bloodstains by hybrid isoelectric focusing (HIEF)

scientific article published on 01 January 1989

Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas

scientific article (publication date: 8 March 2012)

Development of a forensic skin colour predictive test.

scientific article published on 10 July 2014

Development of a methylation marker set for forensic age estimation using analysis of public methylation data and the Agena Bioscience EpiTYPER system

scientific article

Development of a multiplex PCR assay detecting 52 autosomal SNPs

Development of a novel forensic STR multiplex for ancestry analysis and extended identity testing.

scientific article published on 18 March 2013

Development of predictive models of proliferative vitreoretinopathy based on genetic variables: the Retina 4 project

scientific article published on 20 December 2008

Differentiation of African components of ancestry to stratify groups in a case-control study of a Brazilian urban population.

scientific article

Digging deeper into East African human Y chromosome lineages

scientific article

Discovery of a novel and a rare Kristen rat sarcoma viral oncogene homolog (KRAS) gene mutation in colorectal cancer patients

scientific article published on 01 December 2021

Dissection of mitochondrial superhaplogroup H using coding region SNPs

scientific article

Distribution of allele frequencies of 20 STRs loci in a population sample from Calabria, Southern Italy

article

Distribution of the Pi, TfC, and Gc subtypes in Galicia (North West Spain)

scientific article published on 01 January 1983

Double- and single-strand conformation polymorphism analysis of point mutations and short tandem repeats

scientific article published on 01 May 1994

Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications.

scientific article

Effect of environmental factors on PCR-DNA analysis from dental pulp

scientific article published on 01 January 1996

Electrochemical DNA base pairs quantification and endonuclease cleavage detection.

scientific article published on 15 June 2011

Electrophoretic human leukocyte antigen HLA-DQA1 DNA typing after polymerase chain reaction amplification

scientific article published on 01 December 1991

Enhanced localization of genetic samples through linkage-disequilibrium correction

scientific article (publication date: 6 June 2013)

Enzyme polymorphisms in Galicia (NW Spain)

scientific article published on 01 January 1983

Epidemiological trends of histopathologically WHO classified CNS tumors in developing countries: systematic review

scientific article

Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

article

Erratum: Corrigendum: Reconstructing Native American population history

scientific article published in Nature

Estimating Exposome Score for Schizophrenia Using Predictive Modeling Approach in Two Independent Samples: The Results From the EUGEI Study

scientific article published on 01 September 2019

Ethical-legal problems of DNA databases in criminal investigation

scientific article

Eurasiaplex: a forensic SNP assay for differentiating European and South Asian ancestries.

scientific article published on 26 March 2013

Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes

scientific article

Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study

scientific article

Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature

scientific article published on 18 June 2009

Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans

scientific article published on 14 September 2015

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

scientific article

Evidence, and replication thereof, that molecular-genetic and environmental risks for psychosis impact through an affective pathway

scientific article published on 19 October 2020

Examining the independent and joint effects of molecular genetic liability and environmental exposures in schizophrenia: results from the EUGEI study

scientific article published on 01 June 2019

Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

scientific article published on 27 May 2021

Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia

scientific article published on 29 March 2016

Exploration of SNP variants affecting hair colour prediction in Europeans.

scientific article published on 11 July 2015

Exploring iris colour prediction and ancestry inference in admixed populations of South America

scientific article published on 03 July 2014

Exploring mitochondrial DNA variation in the Italian Peninsula

article

Exploring the biological role of postzygotic and germinal de novo mutations in ASD

scientific article published on 11 January 2021

Extending STR markers in Y chromosome haplotypes.

scientific article

FAS system deregulation in T-cell lymphoblastic lymphoma

scientific article published on 06 March 2014

Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region

scientific article

Family history and breast cancer hormone receptor status in a Spanish cohort

scientific article

Fast isoelectric focusing of some polymorphic proteins and enzymes in miniaturized gels using an automated system

scientific article published on 01 November 1988

Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion

scholarly article by Ines Quintela et al published 29 August 2015 in American Journal of Medical Genetics

Finding genes that underlie physical traits of forensic interest using genetic tools

scientific article published on 23 March 2007

Fine mapping of the myosin light chain kinase (MYLK) gene replicates the association with asthma in populations of Spanish descent

scientific article

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

scientific article

Focus issue—Analysis and biostatistical interpretation of complex and low template DNA samples

Forensic DNA analysis in Europe: current situation and standardization efforts

Forensic DNA-typing technologies: a review

scientific article

Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels: Results of a collaborative EDNAP exercise.

scientific article published on 15 June 2015

Forensic considerations on STR databases in Argentina

article

Forensic genetics and genomics: Much more than just a human affair

scientific article published on 21 September 2017

Forensic performance of insertion–deletion marker systems

Forensic performance of two insertion-deletion marker assays

scientific article published on 20 June 2012

Forensic validation and implementation of Y-chromosome SNP multiplexes

Forensic validation of the Genplex SNP typing system—Results of an inter-laboratory study

Further development of forensic eye color predictive tests.

scientific article published on 17 June 2012

GATA C4 allele 17 as a marker for sub-Saharan origin of Y-chromosome lineages

GEP-ISFG proficiency testing programs: 2007 update

Gender bias in the multiethnic genetic composition of central Argentina

scientific article published on 17 June 2008

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

scientific article published on 31 July 2015

Genetic analysis of autosomal and Y-specific STRs in the Karimojong population from Uganda

scholarly article by Leonor Gusmão et al published April 2006 in International Congress Series

Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations

scientific article published on 17 September 2010

Genetic analysis of three US population groups using an X-chromosomal STR decaplex

scientific article published on 20 January 2007

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic association study of age-related macular degeneration in the Spanish population

scientific article published on 25 November 2010

Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians

scientific article

Genetic characterization of 52 autosomal SNPs in the Portuguese population

article

Genetic characterization of 52 autosomal SNPs in two sub-Saharan African populations

Genetic data of 10 X-STRs in a Spanish population sample

scientific article

Genetic data of 10 X-chromosomal loci in Vitória population (Espírito Santo State, Brazil)

article

Genetic data on eight STRs (D5S818, D7S820, F13B, LPL, TH01, TPOX, VWA31, CSF1PO) from a Colombian population

scientific article

Genetic data on three complex STRs (ACTBP2, D21S11 and HUMFIBRA/FGA) in the Galician population (NW Spain).

scientific article

Genetic diversity of Y-specific STRs in chimpanzees (Pan troglodytes).

scientific article published on May 2002

Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal.

scientific article published in January 2000

Genetic epistasis in female suicide attempters.

scientific article

Genetic markers in alcoholic liver cirrhosis

scientific article published on 01 January 1992

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic patterns of 10 X chromosome short tandem repeats in an Asian population from Macau

article

Genetic profile characterization of 10 X-STRs in four populations of the southeastern region of Brazil.

scientific article

Genetic structure of the Kuwaiti population revealed by paternal lineages

scientific article

Genetic susceptibility variants associated with colorectal cancer prognosis

scientific article

Genetic variability at nine STR loci in the Chueta (Majorcan Jews) and the Balearic populations investigated by a single multiplex reaction

scientific article published on 01 January 2000

Genetic variability of 17 Y chromosome STRs in two Native American populations from Argentina

article

Genetic variability of the SNPforID 52-plex identification SNP panel in Italian population samples.

scientific article

Genetic variability of the SNPforID 52-plex identification-SNP panel in Central West Colombia.

scientific article

Genetic variants associated with addictive behavior in Colombian addicted and non-addicted to heroin or cocaine

scientific article published on January 2013

Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response

article

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

scientific article (2010)

Genetic variations in SMAD7 are associated with colorectal cancer risk in the colon cancer family registry

scientific article

Genetics and family medicine

scientific article

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

scientific article published on 06 February 2017

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

scientific journal article

Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene

article

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk

scientific journal article

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

scientific article published on 22 June 2006

Global population variability in Promega PowerPlex CS7, D6S1043, and Penta B STRs

scientific article published on 11 July 2013

Global population variability in Qiagen Investigator HDplex STRs.

scientific article

Grouping of Y-STR haplotypes discloses European geographic clines

scientific article published in July 2003

Guidelines for mitochondrial DNA typing. DNA Commission of the International Society for Forensic Genetics

scientific article published on 01 January 2000

HLA-DRB1*15:01 allele protects from asthma susceptibility.

scientific article published on 14 July 2014

Heteroplasmy in mtDNA and the weight of evidence in forensic mtDNA analysis: a case report

scientific article published in January 2001

Hierarchical analysis of 30 Y-chromosome SNPs in European populations

scientific article (publication date: 17 April 2004)

High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

scientific article published on 28 July 2013

High mitochondrial DNA stability in B-cell chronic lymphocytic leukemia

scientific article

High-density screening of the Zbtb7gene in breast cancer patients

article

High-resolution copy number analysis of paired normal-tumor samples from diffuse large B cell lymphoma.

scientific article published on 14 November 2015

High-throughput genotyping assay for the large-scale genetic characterization of Cryptosporidium parasites from human and bovine samples

scientific article

How executive functions are related to intelligence in Williams syndrome

scientific article published on 22 March 2012

Human Early Life Exposome (HELIX) study: a European population-based exposome cohort

scientific article published on 10 September 2018

Human genetics: international projects and personalized medicine

scientific article

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

scientific article

Hypothesized role of pregnancy hormones on HER2+ breast tumor development

scientific article

ISFG: Recommendations on biostatistics in paternity testing

scientific article published on 06 August 2007

Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy.

scientific article

Identification of a novel mutation in the humanPDE6Agene in autosomal recessive retinitis pigmentosa: homology with thenmf28/nmf28mice model

article

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

article

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment

scientific article

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations

scientific article

Impact of pharmacogenetics on CNS side effects related to efavirenz.

scientific article

Increased clopidogrel response is associated with ABCC3 expression: A pilot study

article

Inference of Ancestry in Forensic Analysis I: Autosomal Ancestry-Informative Marker Sets

scientific article published on January 2016

Inference of Ancestry in Forensic Analysis II: Analysis of Genetic Data.

scientific article

Inference of biogeographical ancestry across central regions of Eurasia.

scientific article

Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs.

scientific article published on 22 August 2007

Initial study of candidate genes on chromosome two for relative hand skill

article

Insertion/deletion polymorphisms: A multiplex assay and forensic applications

Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite

scientific article published in October 2003

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

scientific article

Inter-laboratory evaluation of SNP-based forensic identification by massively parallel sequencing using the Ion PGM™.

scientific article published on 15 April 2015

Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM™.

scientific article

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

International recommendations for paternity testing standards.

scientific article published in October 2002

Interstitial microdeletions including the chromosome band 4q13.2 and theUBA6gene as possible causes of intellectual disability and behavior disorder

article

Introduction of an single nucleodite polymorphism-based "Major Y-chromosome haplogroup typing kit" suitable for predicting the geographical origin of male lineages

scientific article

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

scientific article

Investigation of the STR locus HUMTH01 using PCR and two electrophoresis formats: UK and Galician Caucasian population surveys and usefulness in paternity investigations

scientific article published in May 1994

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

scientific article

Involvement of hypertrophic cardiomyopathy genes in sudden infant death syndrome (SIDS)

article

Isoelectric focusing of human hair keratins: correlation with sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) patterns and effect of cosmetic treatments

scientific article published on 01 March 1992

Isoelectric focusing patterns of some mammalian keratins

scientific article published on 01 January 1987

Lack of association of ankylosing spondylitis with the most common NOD2 susceptibility alleles to Crohn's disease.

scientific article

Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements

scientific article

Large scale analysis of HCM mutations in sudden cardiac death

Large-scale single nucleotide polymorphism analysis of candidates for low-penetrance breast cancer genes

article

Length variability and interspersion patterns of the HRAS1 minisatellite: a new approach for the reconstruction of human population relationships

scientific article published in July 2001

Long Survival and Severe Toxicity Under 5-Fluorouracil–Based Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS

article

Long runs of homozygosity are associated with Alzheimer's disease

scientific article published on 24 February 2021

Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young

scientific article published on 23 July 2015

Medical genomics: The intricate path from genetic variant identification to clinical interpretation

scientific article

Medico-legal perspectives on sudden cardiac death in young athletes

scientific article published on 21 September 2016

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility

scientific article

Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal).

scientific article published in April 2008

Micro and macro geographical analysis of Y-chromosome lineages in South Iberia

scientific article published on May 2017

Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis

article

Micro-phylogeographic and demographic history of Portuguese male lineages

scientific article (publication date: March 2006)

Microgeographic patterns of highly informative Y-chromosome haplotypes (using biallelic markers and STRs) in Galicia (NW Spain): forensic and anthropological implications

article

Microgeographic substructure of NW Iberian Y chromosome STR haplotypes

Microgeographic substructure of Northern Portuguese mitochondrial DNA lineages: the female perspective of this region history

article

Microsatellite autosomal genotyping data in four indigenous populations from El Salvador

scientific article

Mitochondrial DNA variability patterns in Southeast Africa and forensic implications

article

Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing.

scientific article published on 6 July 2016

Mitochondrial echoes of first settlement and genetic continuity in El Salvador

scientific article

Mixture analysis using SWaP™ SNPs and non-biallelic SNPs

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

scientific article published on 16 June 2009

Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes

scientific article published in September 2015

Molecular diversity at the CYP2D6 locus in healthy and schizophrenic southern Brazilians

scientific article

Molecular genetics of sudden cardiac death

scientific article

Mosaic maternal ancestry in the Great Lakes region of East Africa

scientific article

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

scientific article

Multiple sporadic colorectal cancers display a unique methylation phenotype

scientific article

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families

scientific article

Mutation rates at Y chromosome specific microsatellites

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

scientific article published in February 2006

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

scientific article

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

scientific article

Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

scientific article

Naturalistic pharmacogenetic study of treatment resistance to typical neuroleptics in European-Brazilian schizophrenics

scientific article published in July 2008

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

scientific article

New genes emerging for colorectal cancer predisposition

scientific article published on February 2014

New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients.

scientific article published in April 2013

New guidelines for the publication of genetic population data

scientific article

New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0

scientific article

New technologies in the genetic approach to sudden cardiac death in the young.

scientific article

Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders

article

Nilotes from Karamoja, Uganda: haplotype data defined by 17 Y-chromosome STRs

scientific article

Nine autosomal STRs genotype profiles in a sample from Córdoba (Argentina).

scientific article

Nineteen autosomal microsatellite data from Antioquia (Colombia).

scientific article

Nonbinary single-nucleotide polymorphism markers

scientific article published in April 2004

Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome.

scientific article published on 25 March 2013

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

scientific article published in October 2008

Nucleotide variation in central nervous system genes among male suicide attempters

scientific article

Optimisation of Y-STR multiplexing combining established and newly described loci

article by S Beleza et al published January 2003 in International Congress Series

Orosomucoid (ORM1 and ORM2) types in the Spanish Basque Country, Galicia and northern Portugal.

scientific article published in January 1990

PGM1 subtypes in Galicia (NW Spain)

scientific article published on 01 January 1982

Paternal lineages in Libya inferred from Y-chromosome haplogroups

scientific article published on 11 February 2015

Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases.

scientific article published in October 2002

Patterns of Y-STR variation in Italy

scientific article

Pharmacogenetic analysis in neoadjuvant chemoradiation for rectal cancer: high incidence of somatic mutations and their relation with response.

scientific article published in June 2010

Pharmacogenetic analysis of SNPs in genes involved in the pharmacokinetics and response to lopinavir/ritonavir therapy

scientific article published in September 2013

Pharmacogenetic studies on the antipsychotic treatment. Current status and perspectives

scientific article published on September 2010

Pharmacogenetics of OATP transporters reveals that SLCO1B1 c.388A>G variant is determinant of increased atorvastatin response

scientific article

Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration

scientific article

Pharmacogenomics of CRC treatments: putting bricks on the path to personalized medicine

Pharmacogenomics of anti-platelet therapy focused on peripheral blood cells of coronary arterial disease patients

scientific article published on 4 July 2013

Phosphoglucomutase subtypes in human bloodstains

scientific article published on 01 January 1982

Phylogeography of French male lineages

article

Plasma protein and red cell enzyme groups in Galicia (north west Spain)

scientific article published on 01 January 1987

Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438.

scientific article published on 30 October 2002

Polymorphism of erythrocyte acid phosphatase and adenosindesaminase in Galicia (N.W.Spain) by AGIF and PAGIF

scientific article published on 01 January 1982

Polymorphism of human orosomucoid (ORM) by hybrid isoelectric focusing and print lectinofixation

scientific article published on 01 January 1989

Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study

scientific article

Population data defined by 15 autosomal STR loci in Karamoja population (Uganda) using AmpF/STR Identifiler kit.

scientific article

Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4.

scientific article

Population data on 15 autosomal STRs in a sample from Colombia.

scientific article

Population data on the D1S1656 and D12S391 STR loci in Andalusia (south Spain) and the maghreb (north Africa).

scientific article

Population genetics of 17 Y-STR markers in West Libya (Tripoli region).

scientific article

Population genetics of three VNTR polymorphisms in two different Spanish populations

article

Population specific single nucleotide polymorphisms

Population studies using single nucleotide polymorphisms—how important is detailed sample origin information?

Predicting proliferative vitreoretinopathy: temporal and external validation of models based on genetic and clinical variables

scientific article published on 29 July 2014

Prediction of postpartum depression using multilayer perceptrons and pruning

scientific article

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

scientific article published on 16 April 2011

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.

scientific article published on 23 April 2015

Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer

scientific article published on 29 December 2014

Progress in pharmacogenetics: consortiums and new strategies

scientific article

Publication of population data for forensic purposes

scientific article

Publications and letters related to the forensic genetic analysis of low amounts of DNA

scientific article published on 14 December 2010

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article published on 14 July 2020

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

article

RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population

scientific article

RNA/DNA co-analysis from blood stains--results of a second collaborative EDNAP exercise.

scientific article

RNA/DNA co-analysis from human saliva and semen stains--results of a third collaborative EDNAP exercise.

scientific article

RNA/DNA co-analysis from human skin and contact traces--results of a sixth collaborative EDNAP exercise

scientific article published on 7 January 2015

Rapid and enhanced detection of mitochondrial DNA variation using single-strand conformation analysis of superposed restriction enzyme fragments from polymerase chain reaction-amplified products

scientific article published on 01 January 1997

Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions

scientific article published on 01 October 2000

Rare HRAS1 alleles are a risk factor for the development of brain tumors.

scientific article published in December 2001

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article

Recent adaptive selection at MAOB and ancestral susceptibility to schizophrenia

scientific article published in April 2009

Reconstructing Native American population history

scientific article

Reconstructing ancient mitochondrial DNA links between Africa and Europe

scientific article

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

scientific article

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

scientific article published on 10 November 2011

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Relative Y-STR mutation rates estimated from the variance inside SNP defined lineages

article

Replicated evidence that endophenotypic expression of schizophrenia polygenic risk is greater in healthy siblings of patients compared to controls, suggesting gene-environment interaction. The EUGEI study

scientific article published on 15 August 2019

Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain

scientific article published on 12 August 2014

Report on the third EDNAP collaborative STR exercise

scientific article published on 01 April 1996

Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.

scientific article published on 22 April 2015

Results of the 2008 Colombian paternity testing quality control exercise

Results of the GEP-ISFG collaborative study on an X-STR Decaplex

Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data

scientific article

Results of the GEP-ISFG collaborative study on two Y-STRs tetraplexes: GEPY I (DYS461, GATA C4, DYS437 and DYS438) and GEPY II (DYS460, GATA A10, GATA H4 and DYS439)

scientific article published on 01 August 2003

Revised guidelines for the publication of genetic population data

scientific article

Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies

scientific article published on 29 June 2012

Risk of cancer in cases of suspected lynch syndrome without germline mutation.

scientific article published on 24 January 2013

SNP genotyping with single base extension-tag microarrays

SNP typing in forensic genetics: a review

scientific article

SNP variation with latitude: Analysis of the SNPforID 52-plex markers in north, mid-region and south Chilean populations

scientific article published on 7 January 2014

SNPs as Supplements in Simple Kinship Analysis or as Core Markers in Distant Pairwise Relationship Tests: When Do SNPs Add Value or Replace Well-Established and Powerful STR Tests?

scientific article published on 12 May 2012

SNPs in forensic genetics: a review on SNP typing methodologies

scientific article

SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access

scientific article

STR data for the AmpFlSTR Profiler Plus loci from Greece.

scientific article

STR data for the AmpFlSTR profiler plus loci from Macau (China).

scientific article

SUMO4 and MAP3K7IP2 single nucleotide polymorphisms and susceptibility to rheumatoid arthritis

scientific article (publication date: June 2006)

Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

scientific article

Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience

scientific article published on March 2012

Semiparametric approach to match probability calculations using single locus probes.

scientific article published in January 1996

Sequence structure of 12 novel Y chromosome microsatellites and PCR amplification strategies

scientific article

Sequence structure of 12 novel Y chromosome microsatellites and PCR amplification strategies

Sequence variation at three X chromosomal short tandem repeats in Caucasian and African populations

Sequence variation of a hypervariable short tandem repeat at the D12S391 locus

scientific article published on 01 December 1996

Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications

scientific article published on 16 May 2014

Sequenom MassArray™ application in the long QT syndrome mutation detection

Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNA.

scientific article published in December 2005

Significance of micro-geographical population structure in forensic cases: a bayesian exploration.

scientific article published on 15 July 2003

Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort

scientific article

Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4).

scientific article

Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula.

scientific article published on 24 May 2019

Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing.

scientific article

Suicide attempts in bulimia nervosa: Personality, Psychopathological and Genetic correlates

Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype

article by Anna Abulí et al published September 2010 in Gastroenterology

Susceptibility genetic variants associated with early-onset colorectal cancer

scientific article published on 10 January 2012

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

scientific article

TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients

article

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

scientific article

Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.

scientific article published on 8 April 2016

Testing for genetic structure in different urban Argentinian populations

scientific article

Testing the performance of mtSNP minisequencing in forensic samples

scientific article published on 20 May 2009

Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data.

scientific article

The 'Pokemon' (ZBTB7) Gene: No Evidence of Association with Sporadic Breast Cancer.

scientific article

The 1998-1999 collaborative exercises and proficiency testing program on DNA typing of the Spanish and Portuguese Working Group of the International Society for Forensic Genetics (GEP-ISFG).

scientific article published in October 2000

The African diaspora: mitochondrial DNA and the Atlantic slave trade

scientific article published on 10 February 2004

The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications

scientific article published in October 2001

The CYP1A2 -163C>A polymorphism is associated with clozapine-induced generalized tonic-clonic seizures in Brazilian schizophrenia patients

scientific article published on 18 April 2013

The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives

scientific article

The Etruscan timeline: a recent Anatolian connection

scientific article (publication date: May 2009)

The Garífuna (Black Carib) people of the Atlantic coasts of Honduras: Population dynamics, structure, and phylogenetic relations inferred from genetic data, migration matrices, and isonymy

scientific article

The Global AIMs Nano set: A 31-plex SNaPshot assay of ancestry-informative SNPs

scientific article published on 25 January 2016

The Karimojong from Uganda: genetic characterization using an X-STR decaplex system

scientific article published on 19 December 2008

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals

scientific article

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

scientific article

The Spanish legislation on organ transplantation

scientific article published on 01 January 1987

The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia

scientific article published on 17 April 2007

The distribution of HLA DQA1 and D1S80 (pMCT118) alleles and genotypes in the populations of Galicia and central Portugal.

scientific article published in January 1993

The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

scientific article published on 12 May 2022

The effect of whole genome amplification on samples originating from more than one donor

The effects of cosmetic treatment on the IEF pattern of human hair keratins

scientific article published on 01 January 1990

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88.

scientific article published on 15 August 2012

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

scientific article

The genetic legacy of the pre-colonial period in contemporary Bolivians

scientific article

The genetic legacy of western Bantu migrations

scientific article

The genetic male component of two South-Western Colombian populations

scientific article published on 8 August 2008

The genetic male legacy from El Salvador

scientific article

The genetics of skin, hair, and eye color variation and its relevance to forensic pigmentation predictive tests

scientific article published on January 2015

The human early-life exposome (HELIX): project rationale and design ⬇️

scientific article (publication date: June 2014)

The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome

scientific article

The isoelectric focusing of keratins in hair followed by silver staining

scientific article published in September 1985

The making of the African mtDNA landscape

scientific article published in November 2002

The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.

scientific article published on 31 October 2014

The multiethnic ancestry of Bolivians as revealed by the analysis of Y-chromosome markers

scientific article published on November 2014

The proficiency testing program on DNA typing of the Spanish and Portuguese working group of the International Society for Forensic Genetics

article

The recombination landscape around forensic STRs: Accurate measurement of genetic distances between syntenic STR pairs using HapMap high density SNP data

scientific article

The relationship between surname frequency and Y chromosome variation in Spain.

scientific article

The typing of alpha 1-antitrypsin in human bloodstains by isoelectric focusing

scientific article published on 01 March 1982

The use of hybrid isoelectric focusing for the detection of polymorphic proteins in blood stains

scientific article published on 01 December 1989

The use of non-carboxymethylated keratins for the individual identification of human hair

scientific article published on 01 January 1989

The use of scanning electron microscopy in the examination of seminal stains

scientific article published on 01 March 1982

The use of the PhastSystem for the detection of polymorphic proteins and enzymes in bloodstains

scientific article published in January 1989

The use of the STRs HUMTH01, HUMVWA31/A, HUMF13A1, HUMFES/FPS, HUMLPL in forensic application: validation studies and population data for Galicia (NW Spain).

scientific article published on January 1995

The value of genetic polymorphisms to predict toxicity in metastatic colorectal patients with irinotecan-based regimens

scientific article published on 26 April 2012

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

scientific article published on 22 April 2015

Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East

scientific article (publication date: 4 July 2008)

Transcriptome and genome sequencing uncovers functional variation in humans

scientific article

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

scientific article published in March 2004

Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains.

scientific article published on 25 November 2011

UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes

scientific article published on 30 April 2021

Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage

scientific article

Update of the guidelines for the publication of genetic population data

scientific article published on 4 February 2014

Use of a comprehensive panel of biomarkers to predict response to a fluorouracil-oxaliplatin regimen in patients with metastatic colorectal cancer

article

Using STR, MiniSTR and SNP markers to solve complex cases of kinship analysis

Using methylome data to inform exposome-health association studies: An application to the identification of environmental drivers of child body mass index

scientific article published on 14 March 2020

Variability of multi-omics profiles in a population-based child cohort

scientific article published on 22 July 2021

Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk.

scientific article published on 10 June 2010

Viability of in-house datamarting approaches for population genetics analysis of SNP genotypes

scientific article published on 19 March 2009

White Noise Speech Illusions: A Trait-Dependent Risk Marker for Psychotic Disorder?

scientific article published on 25 September 2019

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

scientific article published on 19 July 2014

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

scientific article published on 24 July 2014

X-Ray Cross-Complementing Group 1 and Thymidylate Synthase Polymorphisms Might Predict Response to Chemoradiotherapy in Rectal Cancer Patients

article

X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees

scientific article published on 12 December 2008

Y chromosome STR haplotypes: genetic and sequencing data of the Galician population (NW Spain).

scientific article

Y chromosome microsatellite genetic variation in two Native American populations from Argentina: Population stratification and mutation data

scientific article (publication date: September 2008)

Y-chromosomal DNA analysis in French male lineages.

scientific article

Y-chromosomal and mitochondrial markers: A comparison between four population groups of Italy

article

Y-chromosome STRs in populations of Bantu origin from Mozambique: male contribution to the Africa genetic pool and forensic implications

Y-chromosome lineages in native South American population

scientific article (publication date: April 2010)

Y-chromosome short tandem repeat polymorphisms: a comparison between humans and chimpanzees

ZBTB7 HapMap in a worldwide population study.

scientific article published on 17 June 2005

[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].

scientific article

[Studies of association in complex diseases: statistical problems related to the analysis of genetic polymorphisms]

scientific article published in December 2007

affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

scientific article

mRNA profiling for the identification of blood--results of a collaborative EDNAP exercise.

scientific article published on 6 February 2010

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

mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations.

scientific article published in February 2004

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