Ángel Carracedo
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Ángel Carracedo's Degrees
- Bachelors Medicine University of Santiago de Compostela
- PhD Medicine University of Santiago de Compostela
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(Suggest an Edit or Addition)Ángel Carracedo's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Synaptic, transcriptional, and chromatin genes disrupted in autism (2014) (2080)
- Transcriptome and genome sequencing uncovers functional variation in humans (2013) (1758)
- Common variants conferring risk of schizophrenia (2009) (1653)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2018) (1064)
- Association analysis identifies 65 new breast cancer risk loci (2017) (922)
- Reconstructing Native American Population History (2012) (688)
- Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain (2013) (672)
- A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3 (2008) (578)
- Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration (2010) (508)
- The making of the African mtDNA landscape. (2002) (506)
- A multiplex assay with 52 single nucleotide polymorphisms for human identification (2006) (462)
- Publication of population data of human polymorphisms (2000) (422)
- SNPs in forensic genetics: a review on SNP typing methodologies. (2005) (420)
- An overview of STRUCTURE: applications, parameter settings, and supporting software (2013) (416)
- The contribution of cannabis use to variation in the incidence of psychotic disorder across Europe (EU-GEI): a multicentre case-control study (2019) (401)
- DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures. (2006) (378)
- DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis (2006) (335)
- Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs. (2007) (332)
- Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. (2020) (322)
- DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. (2006) (314)
- DNA Commission of the International Society for Forensic Genetics (ISFG): recommendations regarding the role of forensic genetics for disaster victim identification (DVI). (2007) (313)
- Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing (2016) (305)
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases (2017) (275)
- The African diaspora: mitochondrial DNA and the Atlantic slave trade. (2004) (272)
- The Human Early-Life Exposome (HELIX): Project Rationale and Design (2013) (272)
- DNA recommendations (1997) (271)
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
- DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. (2001) (259)
- Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice (2013) (248)
- New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) (246)
- Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. (2001) (245)
- Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer (2017) (244)
- Common variants at 2q37.3, 8q24.21, 15q21.3, and 16q24.1 influence chronic lymphocytic leukemia risk (2010) (243)
- DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA typing. (2000) (236)
- A Critical Reassessment of the Role of Mitochondria in Tumorigenesis (2005) (222)
- Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas (2012) (222)
- Publication of population data for forensic purposes. (2010) (220)
- ISFG: Recommendations on biostatistics in paternity testing. (2007) (218)
- Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export (2015) (214)
- Straightforward Inference of Ancestry and Admixture Proportions through Ancestry-Informative Insertion Deletion Multiplexing (2012) (212)
- Common variants at VRK2 and TCF4 conferring risk of schizophrenia. (2011) (210)
- Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. (2014) (210)
- Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer (2011) (204)
- Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing. (2004) (200)
- Risk of cancer in cases of suspected lynch syndrome without germline mutation. (2013) (197)
- A new multiplex for human identification using insertion/deletion polymorphisms (2009) (196)
- Genome-wide Association Study Identifies Multiple Risk Loci for Chronic Lymphocytic Leukemia (2013) (190)
- Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer (2011) (188)
- Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder (2017) (187)
- The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula (2008) (185)
- New guidelines for the publication of genetic population data. (2013) (178)
- 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 (2003) (176)
- DNA Commission of the International Society for Forensic Genetics: Guidelines for mitochondrial DNA typing (2000) (170)
- DNA Recommendations 1997 of the International Society for Forensic Genetics (1998) (168)
- mtDNA analysis of the Galician population: a genetic edge of European variation (1998) (168)
- Analysis of artificially degraded DNA using STRs and SNPs--results of a collaborative European (EDNAP) exercise. (2006) (165)
- Mutation rates at Y chromosome specific microsatellites (2005) (158)
- The genetic legacy of western Bantu migrations (2005) (157)
- A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. (2005) (154)
- Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles. (2001) (152)
- Update of the guidelines for the publication of genetic population data. (2014) (149)
- DNA recommendations. Further report of the DNA Commission of the ISFH regarding the use of short tandem repeat systems. International Society for Forensic Haemogenetics. (1997) (141)
- Human Early Life Exposome (HELIX) study: a European population-based exposome cohort (2018) (132)
- Association of PDCD1 with susceptibility to systemic lupus erythematosus: evidence of population-specific effects. (2004) (131)
- Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1 (2013) (131)
- Further development of forensic eye color predictive tests. (2013) (131)
- Charting the ancestry of African Americans. (2005) (123)
- The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript (2001) (122)
- White Noise Speech Illusions: A Trait-Dependent Risk Marker for Psychotic Disorder? (2019) (122)
- Ancestry Analysis in the 11-M Madrid Bomb Attack Investigation (2009) (119)
- A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1 (2014) (119)
- Building a forensic ancestry panel from the ground up: The EUROFORGEN Global AIM-SNP set. (2014) (116)
- A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations (2009) (116)
- Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature. (1997) (116)
- The risk of cancer. (1981) (111)
- Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies. (2013) (111)
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (111)
- Hierarchical analysis of 30 Y-chromosome SNPs in European populations (2004) (111)
- Resolving relationship tests that show ambiguous STR results using autosomal SNPs as supplementary markers. (2008) (110)
- Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel. (2011) (110)
- SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access (2008) (107)
- RNA/DNA co-analysis from blood stains--results of a second collaborative EDNAP exercise. (2012) (107)
- Examining the independent and joint effects of molecular genetic liability and environmental exposures in schizophrenia: results from the EUGEI study (2019) (106)
- The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives. (2004) (105)
- mRNA profiling for the identification of blood--results of a collaborative EDNAP exercise. (2011) (105)
- Development of a methylation marker set for forensic age estimation using analysis of public methylation data and the Agena Bioscience EpiTYPER system. (2016) (102)
- Inter-laboratory evaluation of SNP-based forensic identification by massively parallel sequencing using the Ion PGM™. (2015) (102)
- RNA/DNA co-analysis from human saliva and semen stains--results of a third collaborative EDNAP exercise. (2013) (102)
- Coding region mitochondrial DNA SNPs: targeting East Asian and Native American haplogroups. (2007) (101)
- Common variant at 16p11.2 conferring risk of psychosis (2014) (100)
- Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases. (2002) (99)
- Eurasiaplex: a forensic SNP assay for differentiating European and South Asian ancestries. (2013) (99)
- 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 (2009) (96)
- Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola (2004) (96)
- New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 (2009) (96)
- Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction. (2008) (96)
- Heteroplasmy in mtDNA and the weight of evidence in forensic mtDNA analysis: a case report (2001) (96)
- 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 (2014) (95)
- Evaluation of the Genplex SNP typing system and a 49plex forensic marker panel. (2007) (94)
- A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics (2016) (91)
- A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. (2017) (90)
- A SNaPshot of next generation sequencing for forensic SNP analysis. (2015) (89)
- Revised guidelines for the publication of genetic population data. (2017) (89)
- Investigation of the STR locus HUMTH01 using PCR and two electrophoresis formats: UK and Galician Caucasian population surveys and usefulness in paternity investigations. (1994) (88)
- Micro‐Phylogeographic and Demographic History of Portuguese Male Lineages (2006) (88)
- Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia (2010) (87)
- Introduction of an single nucleodite polymorphism‐based “Major Y‐chromosome haplogroup typing kit” suitable for predicting the geographical origin of male lineages (2005) (85)
- Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (2021) (85)
- Forensic validation of the SNPforID 52-plex assay. (2007) (83)
- Dissection of mitochondrial superhaplogroup H using coding region SNPs (2006) (82)
- Genetic admixture in three mexican mestizo populations based on D1S80 and HLA‐DQA1 Loci (2002) (82)
- Association Study of Nonsynonymous Single Nucleotide Polymorphisms in Schizophrenia (2012) (82)
- Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer (2014) (81)
- Molecular genetics of sudden cardiac death. (2008) (81)
- Case report: identification of skeletal remains using short-amplicon marker analysis of severely degraded DNA extracted from a decomposed and charred femur. (2008) (79)
- Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers (2014) (78)
- ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization (2012) (78)
- The recombination landscape around forensic STRs: Accurate measurement of genetic distances between syntenic STR pairs using HapMap high density SNP data. (2012) (78)
- Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia (2017) (77)
- Robustness of the Y STRs DYS19, DYS389 I and II, DYS390 and DYS393: optimization of a PCR pentaplex. (1999) (77)
- Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes (2006) (75)
- Forensic performance of two insertion–deletion marker assays (2012) (74)
- A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results. (2014) (74)
- Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. (2008) (73)
- Development of a forensic skin colour predictive test. (2014) (72)
- The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome (2011) (70)
- Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women. (2010) (69)
- A new SNP assay for identification of highly degraded human DNA. (2012) (68)
- Genetic analysis of three US population groups using an X-chromosomal STR decaplex (2007) (68)
- Effect of environmental factors on PCR-DNA analysis from dental pulp (2005) (66)
- Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNA. (2005) (66)
- Gender bias in the multiethnic genetic composition of central Argentina (2008) (65)
- Sequence variation of a hypervariable short tandem repeat at the D1S1656 locus (1998) (65)
- Ethical-legal problems of DNA databases in criminal investigation (2000) (65)
- Extending STR markers in Y chromosome haplotypes (2003) (65)
- New insights on the genetic etiology of Alzheimer’s and related dementia (2020) (64)
- Reconstructing ancient mitochondrial DNA links between Africa and Europe (2012) (63)
- Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer (2016) (63)
- Digging deeper into East African human Y chromosome lineages (2010) (62)
- DNA mixtures in forensic casework: a 4-year retrospective study. (2003) (62)
- A strong genetic association between the tumor necrosis factor locus and proliferative vitreoretinopathy: the retina 4 project. (2010) (62)
- Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. (2006) (62)
- A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. (2009) (62)
- Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions. (2000) (61)
- Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains. (2012) (60)
- Forensic typing of autosomal SNPs with a 29 SNP-multiplex--results of a collaborative EDNAP exercise. (2008) (60)
- Challenging DNA: Assessment of a range of genotyping approaches for highly degraded forensic samples (2008) (59)
- Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula (2018) (59)
- Pharmacogenetics of OATP Transporters Reveals That SLCO1B1 c.388A>G Variant Is Determinant of Increased Atorvastatin Response (2011) (58)
- Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature. (2002) (58)
- Forensic genetics and genomics: Much more than just a human affair (2017) (58)
- 17 STR data (AmpF/STR Identifiler and Powerplex 16 System) from Cabinda (Angola). (2004) (57)
- Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI) (2006) (57)
- Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? (2009) (56)
- Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk (2018) (55)
- Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM™. (2016) (55)
- Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer (2015) (54)
- Pacifiplex: an ancestry-informative SNP panel centred on Australia and the Pacific region. (2016) (54)
- Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. (2010) (53)
- Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness (2015) (53)
- Sarcomeric gene mutations in sudden infant death syndrome (SIDS). (2012) (53)
- A highly variable STR at the D12S391 locus (2005) (52)
- A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy (2011) (52)
- Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer (2012) (52)
- RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population (2008) (51)
- Insertion/deletion polymorphisms: A multiplex assay and forensic applications (2009) (51)
- Distribution of Y-chromosome STR defined haplotypes in Iberia. (2000) (51)
- The SNPforID browser: an online tool for query and display of frequency data from the SNPforID project (2008) (51)
- The mtDNA ancestry of admixed Colombian populations (2008) (50)
- COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer (2009) (50)
- A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR (2011) (50)
- The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia (2007) (50)
- RNA/DNA co-analysis from human skin and contact traces--results of a sixth collaborative EDNAP exercise. (2015) (49)
- Analysis of the CODIS autosomal STR loci in four main Colombian regions. (2003) (49)
- mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations (2004) (49)
- Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration (2012) (49)
- Uniparental Markers of Contemporary Italian Population Reveals Details on Its Pre-Roman Heritage (2012) (49)
- Use of a comprehensive panel of biomarkers to predict response to a fluorouracil-oxaliplatin regimen in patients with metastatic colorectal cancer. (2011) (48)
- Lack of association of ankylosing spondylitis with the most common NOD2 susceptibility alleles to Crohn's disease. (2003) (47)
- A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy. (2013) (47)
- Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk (2014) (47)
- 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? (2012) (47)
- 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). (2000) (46)
- Pharmacogenetic analysis in neoadjuvant chemoradiation for rectal cancer: high incidence of somatic mutations and their relation with response. (2010) (46)
- Breast Feeding, Parity and Breast Cancer Subtypes in a Spanish Cohort (2012) (46)
- DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs (2001) (45)
- Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases (2013) (45)
- High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme (2014) (45)
- SNP Typing in Forensic Genetics (2005) (45)
- 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. (2011) (44)
- Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome (2015) (44)
- Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families (2007) (44)
- The Genetic Legacy of the Pre-Colonial Period in Contemporary Bolivians (2013) (44)
- The Global AIMs Nano set: A 31-plex SNaPshot assay of ancestry-informative SNPs. (2016) (44)
- Results of a collaborative study of the EDNAP group regarding the reproducibility and robustness of the Y-chromosome STRs DYS19, DYS389 I and II, DYS390 and DYS393 in a PCR pentaplex format. (2001) (44)
- Genome-wide association study of germline variants and breast cancer-specific mortality (2019) (44)
- New genes emerging for colorectal cancer predisposition. (2014) (44)
- Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis. (2004) (43)
- A report of an international collaborative experiment to demonstrate the uniformity obtainable using DNA profiling techniques. (1992) (43)
- Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis. (2011) (43)
- Y chromosome STR haplotypes: genetic and sequencing data of the Galician population (NW Spain) (1998) (43)
- Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems. (2019) (43)
- Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects (2011) (43)
- A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease (2014) (42)
- Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk (2010) (42)
- Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data. (2015) (42)
- Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations (2015) (42)
- A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12 (2013) (41)
- Global patterns of STR sequence variation: Sequencing the CEPH human genome diversity panel for 58 forensic STRs using the Illumina ForenSeq DNA Signature Prep Kit (2018) (41)
- mtDNA hypervariable region II (HVII) sequences in human evolution studies (2000) (41)
- Identification of Mycobacterium marinum in sea‐urchin granulomas (2001) (41)
- Is mitochondrial DNA variation associated with sporadic breast cancer risk? (2008) (41)
- Naturalistic pharmacogenetic study of treatment resistance to typical neuroleptics in European–Brazilian schizophrenics (2008) (40)
- Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma. (2007) (40)
- Estimating Exposome Score for Schizophrenia Using Predictive Modeling Approach in Two Independent Samples: The Results From the EUGEI Study. (2019) (40)
- Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East (2008) (40)
- Complement factor H. (2007) (40)
- Social Camouflaging in Females with Autism Spectrum Disorder: A Systematic Review (2020) (40)
- Novel high‐throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis (2007) (40)
- Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. (2013) (40)
- Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study (2008) (39)
- Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins (2011) (39)
- Extensive linkage disequilibrium mapping at HTR2A and DRD3 for schizophrenia susceptibility genes in the Galician population (2007) (39)
- Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk (2012) (38)
- Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients. (2012) (38)
- Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA. (2018) (38)
- Genetic association study of age‐related macular degeneration in the Spanish population (2011) (37)
- pop.STR—An online population frequency browser for established and new forensic STRs (2009) (37)
- Alcohol Consumption and Survival after a Breast Cancer Diagnosis: A Literature-Based Meta-analysis and Collaborative Analysis of Data for 29,239 Cases (2014) (36)
- Allele frequencies of fifteen STRs in a representative sample of the Italian population. (2009) (36)
- Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case–control sample from Spain (2014) (36)
- Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia (2016) (36)
- Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula (2002) (36)
- Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite. (2003) (36)
- Development of predictive models of proliferative vitreoretinopathy based on genetic variables: the Retina 4 project. (2009) (35)
- Analysis of 10 X-STRs in three African populations. (2007) (35)
- Whole genome amplification—the solution for a common problem in forensic casework? (2004) (35)
- Y-chromosome variation in a Norwegian population sample. (2001) (35)
- Susceptibility genetic variants associated with early-onset colorectal cancer. (2012) (35)
- Investigation of gene‐environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors (2015) (35)
- De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis (2018) (35)
- Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk (2020) (35)
- Mitochondrial Echoes of First Settlement and Genetic Continuity in El Salvador (2009) (35)
- The three most common CARD15 mutations associated with Crohn's disease and the chromosome 16 susceptibility locus for systemic lupus erythematosus. (2003) (35)
- Exploring iris colour prediction and ancestry inference in admixed populations of South America. (2014) (34)
- Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa (2008) (34)
- Recent adaptive selection at MAOB and ancestral susceptibility to schizophrenia (2009) (34)
- A melting pot of multicontinental mtDNA lineages in admixed Venezuelans. (2012) (34)
- The variant E233G of the RAD51D gene could be a low‐penetrance allele in high‐risk breast cancer families without BRCA1/2 mutations (2004) (34)
- Cognitive and emotional impairments in obsessive-compulsive disorder: Evidence from functional brain alterations. (2016) (34)
- Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer (2001) (34)
- Y chromosome microsatellite genetic variation in two Native American populations from Argentina: population stratification and mutation data. (2008) (34)
- 16 STR data of a Greek population. (2008) (34)
- Prediction of Postpartum Depression Using Multilayer Perceptrons and Pruning (2009) (34)
- How executive functions are related to intelligence in Williams syndrome. (2012) (34)
- Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response. (2013) (33)
- Reproducibility of mtDNA analysis between laboratories: a report of the European DNA Profiling Group (EDNAP). (1998) (33)
- PGM1 subtypes in Galicia (NW Spain). (1982) (33)
- Grouping of Y-STR haplotypes discloses European geographic clines. (2003) (33)
- Rapid and enhanced detection of mitochondrial DNA variation using single‐strand conformation analysis of superposed restriction enzyme fragments from polymerase chain reaction‐amplified products (1997) (33)
- Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early‐onset breast cancer: Identification of three novel pathogenic mutations (2003) (33)
- The EUropean Network of National Schizophrenia Networks Studying Gene–Environment Interactions (EU-GEI): Incidence and First-Episode Case–Control Programme (2020) (33)
- Development of a novel forensic STR multiplex for ancestry analysis and extended identity testing (2013) (33)
- Genetic data of 10 X-STRs in a Spanish population sample. (2007) (32)
- Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 (2015) (32)
- The Etruscan timeline: a recent Anatolian connection (2009) (32)
- Molecular diversity at the CYP2D6 locus in healthy and schizophrenic southern Brazilians. (2009) (32)
- Population data defined by 15 autosomal STR loci in Karamoja population (Uganda) using AmpF/STR Identifiler kit. (2009) (32)
- Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans. (2015) (32)
- Exploration of SNP variants affecting hair colour prediction in Europeans (2015) (32)
- Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies (2016) (32)
- Alternative primers for DYS391 typing: advantages of their application to forensic genetics. (2000) (32)
- Patterns of Default Mode Network Deactivation in Obsessive Compulsive Disorder (2017) (31)
- Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders (2014) (31)
- Medical genomics: The intricate path from genetic variant identification to clinical interpretation (2014) (31)
- Guidelines for Mitochondrial DNA Typing (2000) (31)
- “New turns from old STaRs”: Enhancing the capabilities of forensic short tandem repeat analysis (2014) (31)
- Association between DNA methylation and ADHD symptoms from birth to school age: a prospective meta-analysis (2019) (31)
- X-ray cross-complementing group 1 and thymidylate synthase polymorphisms might predict response to chemoradiotherapy in rectal cancer patients. (2012) (30)
- RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families (2014) (30)
- Common variants in Alzheimer’s disease: Novel association of six genetic variants with AD and risk stratification by polygenic risk scores (2019) (30)
- Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases (2011) (30)
- The use of the LightCycler for the detection of Y chromosome SNPs. (2001) (30)
- Testing for genetic structure in different urban Argentinian populations. (2007) (30)
- Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians. (2013) (29)
- Completion of a worldwide reference panel of samples for an ancestry informative Indel assay. (2015) (29)
- Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young. (2015) (29)
- Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer (2015) (29)
- Evaluation of the Qiagen 140-SNP forensic identification multiplex for massively parallel sequencing. (2017) (29)
- BDNF genetic variants and methylation: effects on cognition in major depressive disorder (2019) (29)
- Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ (2017) (28)
- Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer (2015) (28)
- Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter. Inferences from a case study (Madeira, Portugal). (2008) (28)
- Enhanced localization of genetic samples through linkage-disequilibrium correction. (2013) (28)
- Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications. (2004) (28)
- New technologies in the genetic approach to sudden cardiac death in the young. (2010) (28)
- Clinical and molecular characterization of Wilson disease in Spanish patients (2007) (28)
- Sequence structure of 12 novel Y chromosome microsatellites and PCR amplification strategies. (2001) (28)
- BRCA1 mutations do not increase prostate cancer risk: Results from a meta‐analysis including new data (2011) (28)
- Sequence variation of a hypervariable short tandem repeat at the D12S391 locus. (1996) (28)
- Development and validation of the EUROFORGEN NAME (North African and Middle Eastern) ancestry panel. (2019) (27)
- 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 (2019) (27)
- Applications of MALDI‐TOF MS to large‐scale human mtDNA population‐based studies (2009) (27)
- Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort (2010) (27)
- Y-chromosome lineages in native South American population. (2010) (27)
- Nonbinary single-nucleotide polymorphism markers (2004) (27)
- Y chromosome specific polymorphisms in forensic analysis. (1999) (27)
- Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation (2006) (27)
- Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels: Results of a collaborative EDNAP exercise. (2015) (26)
- The genetics of skin, hair, and eye color variation and its relevance to forensic pigmentation predictive tests. (2015) (26)
- Examining the independent and joint effects of genomic and exposomic liabilities for schizophrenia across the psychosis spectrum (2020) (26)
- High Mitochondrial DNA Stability in B-Cell Chronic Lymphocytic Leukemia (2009) (26)
- A Genome Wide Association Study Links Glutamate Receptor Pathway to Sporadic Creutzfeldt-Jakob Disease Risk (2015) (26)
- Low frequency of replication errors in primary nervous system tumours (2000) (26)
- Inference of Ancestry in Forensic Analysis II: Analysis of Genetic Data. (2016) (26)
- Association between SNPs of Metalloproteinases and Prostaglandin F2α Receptor Genes and Latanoprost Response in Open-Angle Glaucoma. (2015) (26)
- Forensic SNP genotyping with SNaPshot: Technical considerations for the development and optimization of multiplexed SNP assays. (2017) (26)
- Family History and Breast Cancer Hormone Receptor Status in a Spanish Cohort (2012) (26)
- Finding genes that underlie physical traits of forensic interest using genetic tools. (2007) (26)
- Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis (2014) (26)
- CSVS, a crowdsourcing database of the Spanish population genetic variability (2020) (26)
- Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
- New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients. (2013) (26)
- D9S1120, a simple STR with a common Native American-specific allele: forensic optimization, locus characterization and allele frequency studies. (2008) (26)
- New Insights into the Lake Chad Basin Population Structure Revealed by High-Throughput Genotyping of Mitochondrial DNA Coding SNPs (2011) (26)
- A pathway‐based association study reveals variants from Wnt signalling genes contributing to asthma susceptibility (2017) (26)
- The early-life exposome and epigenetic age acceleration in children. (2021) (25)
- Neutrophil to lymphocyte ratio and breast cancer risk: analysis by subtype and potential interactions (2020) (25)
- The Karimojong from Uganda: genetic characterization using an X-STR decaplex system. (2009) (25)
- The relationship between surname frequency and Y chromosome variation in Spain (2015) (25)
- Genetic markers in alcoholic liver cirrhosis. (1992) (25)
- A Colorectal Cancer Susceptibility New Variant at 4q26 in the Spanish Population Identified by Genome-Wide Association Analysis (2014) (25)
- Comparison of the genetic background of different Colombian populations using the SNPforID 52plex identification panel (2013) (25)
- Purification and partial characterization of tomentine. An N-acetylglucosamine-specific lectin from the green alga Codium tomentosum (Huds.) Stackh. (1988) (24)
- Comprehensive molecular testing in patients with high functioning autism spectrum disorder. (2016) (24)
- Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility (2013) (24)
- A two-phase case–control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22 (2011) (24)
- Cognitive functioning in children and adults with Smith-Magenis syndrome. (2012) (24)
- Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced by nonsteroidal anti-inflammatory drugs. (2013) (24)
- Analyses of variants located in estrogen metabolism genes (ESR1, ESR2, COMT and APOE) and schizophrenia (2008) (24)
- Analysis of a claimed distant relationship in a deficient pedigree using high density SNP data. (2012) (24)
- Autosomal STR genetic variation in negroid Chocó and Bogotá populations (2001) (23)
- The value of genetic polymorphisms to predict toxicity in metastatic colorectal patients with irinotecan-based regimens (2012) (23)
- Results of the GEP-ISFG collaborative study on an X-STR Decaplex (2008) (23)
- SNP typing in forensic genetics: a review. (2005) (23)
- Prevalence of CYP2C9 polymorphisms in the south of Europe (2009) (23)
- Human genome-wide screen of haplotype-like blocks of reduced diversity. (2005) (23)
- Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal (2000) (22)
- Population genetics of the D12S391, CSF1PO and TPOX loci in Catalonia (Northeast Spain) (1997) (22)
- Alpha-1-antitrypsin (Pi) subtypes in the Spanish Basque provinces. (1987) (22)
- Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13 (2011) (22)
- Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder (2011) (22)
- Hypothesized role of pregnancy hormones on HER2+ breast tumor development (2012) (22)
- Testing the performance of mtSNP minisequencing in forensic samples. (2009) (22)
- Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. (2014) (22)
- Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing (2016) (22)
- Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood (2015) (22)
- How is COVID-19 affecting patients with obsessive–compulsive disorder? A longitudinal study on the initial phase of the pandemic in a Spanish cohort (2021) (22)
- High-resolution copy number analysis of paired normal-tumor samples from diffuse large B cell lymphoma (2015) (22)
- Testing for kinship in a subdivided population. (2003) (22)
- Copy number variation analysis of patients with intellectual disability from North-West Spain. (2017) (21)
- A silver staining method for the detection of polymorphic proteins in minute bloodstains after isoelectric focusing. (1983) (21)
- Forensic DNA Typing Protocols (2004) (21)
- TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients. (2012) (21)
- Cognitive functioning in Williams syndrome: a study in Portuguese and Spanish patients. (2009) (21)
- 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 (2010) (21)
- Minisequencing mitochondrial DNA pathogenic mutations (2008) (21)
- Medico-legal perspectives on sudden cardiac death in young athletes (2017) (21)
- The CYP1A2 –163C>A polymorphism is associated with clozapine-induced generalized tonic-clonic seizures in Brazilian schizophrenia patients (2013) (21)
- Patterns of Y-STR variation in Italy. (2012) (21)
- Nucleotide variation in central nervous system genes among male suicide attempters (2009) (20)
- Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model (2010) (20)
- Brain activation of the defensive and appetitive survival systems in obsessive compulsive disorder (2015) (20)
- Allele frequency distribution of four PCR-amplified loci in the Spanish population. (1995) (20)
- Inference of Ancestry in Forensic Analysis I: Autosomal Ancestry-Informative Marker Sets. (2016) (20)
- DNA typing of short tandem repeat loci on Y-chromosome of Greek population. (2002) (20)
- Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region (2006) (20)
- Characterization of CYP1A2, CYP2C19, CYP3A4 and CYP3A5 polymorphisms in South Brazilians (2014) (20)
- CARD15/NOD2 analysis in rheumatoid arthritis susceptibility. (2003) (20)
- Predicting proliferative vitreoretinopathy: temporal and external validation of models based on genetic and clinical variables (2014) (20)
- Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer. (2007) (19)
- A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer (2013) (19)
- Executive Functioning: A Mediator Between Sensory Processing and Behaviour in Autism Spectrum Disorder (2020) (19)
- Mosaic maternal ancestry in the Great Lakes region of East Africa (2015) (19)
- Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death? (2020) (19)
- Genetic susceptibility variants associated with colorectal cancer prognosis. (2013) (19)
- Y-chromosome STR haplotypes in Córdoba (Argentina). (2003) (19)
- Y-chromosome STR haplotypes from a Western Mediterranean population sample. (2001) (19)
- Touch Processing and Social Behavior in ASD (2017) (19)
- CYP2D6 genotyping by liquid chromatography-electrospray ionization mass spectrometry (2011) (19)
- Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (2009) (19)
- X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees (2009) (19)
- Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications (2014) (19)
- A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. (2003) (18)
- Isoelectric focusing patterns of some mammalian keratins. (1987) (18)
- Ethical publication of research on genetics and genomics of biological material: guidelines and recommendations. (2020) (18)
- A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia (2008) (18)
- Pleomorphism and drug resistant cancer stem cells are characteristic of aggressive primary meningioma cell lines (2017) (18)
- Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations (2003) (18)
- Genetic Variations in SMAD7 Are Associated with Colorectal Cancer Risk in the Colon Cancer Family Registry (2013) (18)
- Fluorescent SSCP of overlapping fragments (FSSCP-OF): a highly sensitive method for the screening of mitochondrial DNA variation. (2001) (18)
- The multiethnic ancestry of Bolivians as revealed by the analysis of Y-chromosome markers. (2015) (18)
- Clinal variation of YAP+ Y-chromosome frequencies in Western Iberia. (2000) (18)
- Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing (2011) (17)
- Beyond BRCA1 and BRCA2 wild‐type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN (2010) (17)
- Genetic variants associated with addictive behavior in Colombian addicted and non-addicted to heroin or cocaine (2013) (17)
- PRKG1 and genetic diagnosis of early‐onset thoracic aortic disease (2016) (17)
- 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. (2003) (17)
- Population data on the D1S1656 and D12S391 STR loci in Andalusia (south Spain) and the maghreb (north Africa). (1999) (17)
- Genetic Differentiation of the Cabo Verde Archipelago Population Analysed by STR Polymorphisms (2003) (17)
- Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. (2014) (17)
- Genome-wide association study in Spanish identifies ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), as a novel asthma susceptibility gene. (2016) (17)
- The genetic male legacy from El Salvador. (2007) (17)
- Global population variability in Qiagen Investigator HDplex STRs. (2014) (17)
- Band shift analysis of three base-pair repeat alleles in the short tandem repeat locus D12S391. (1998) (16)
- Identification of West Eurasian mitochondrial haplogroups by mtDNA SNP screening: results of the 2006-2007 EDNAP collaborative exercise. (2008) (16)
- Genetic Associations in the Vitamin D Receptor and Colorectal Cancer in African Americans and Caucasians (2011) (16)
- 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 (2014) (16)
- Paternity Testing Commission of the International Society of Forensic Genetics (2003) (16)
- Duplication and deletion analysis by fluorescent real-time PCR-based genotyping. (2006) (16)
- Examining the association between exposome score for schizophrenia and functioning in schizophrenia, siblings, and healthy controls: Results from the EUGEI study (2021) (16)
- Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico (2016) (16)
- Population genetics of three VNTR polymorphisms in two different Spanish populations (2005) (16)
- Selecting single nucleotide polymorphisms for forensic applications (2004) (16)
- Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer (2019) (16)
- Genetic variability of the SNPforID 52-plex identification-SNP panel in Central West Colombia. (2009) (16)
- The isoelectric focusing of keratins in hair followed by silver staining. (1985) (16)
- Low Incidence of Microsatellite Instability in Patients With Cervical Carcinomas (1998) (16)
- Inference of biogeographical ancestry across central regions of Eurasia (2015) (16)
- The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88 (2012) (16)
- In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children (2020) (16)
- Y-chromosomal DNA analysis in French male lineages. (2014) (16)
- Cerebral and cerebellar MRI volumes in Williams syndrome. (2014) (16)
- Electrophoretic human leukocyte antigen HLA‐DQA1 DNA typing after polymerase chain reaction amplification (1991) (16)
- Forensic DNA-Typing Technologies (2005) (16)
- A new approach to long QT syndrome mutation detection by Sequenom MassARRAY® system (2010) (16)
- 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. (2015) (16)
- FKBP5 polymorphisms and hypothalamic-pituitary-adrenal axis negative feedback in major depression and obsessive-compulsive disorder. (2018) (16)
- 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). (2003) (16)
- Association of MUTYH and MSH6 germline mutations in colorectal cancer patients (2009) (15)
- Using methylome data to inform exposome-health association studies: An application to the identification of environmental drivers of child body mass index. (2020) (15)
- Allele frequencies of the five new European Standard Set (ESS) STRs and 15 established STRs in a Turkish population. (2014) (15)
- Y Chromosome-Specific STRs (2003) (15)
- The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications (2001) (15)
- The use of the STRs HUMTH01, HUMVWA31/A, HUMF13A1, HUMFES/FPS, HUMLPL in forensic application: Validation studies and population data for Galicia (NW Spain) (2005) (15)
- Alcohol and breast cancer tumor subtypes in a Spanish Cohort (2016) (15)
- In situ characterization of stem cells-like biomarkers in meningiomas (2018) (15)
- Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study (2020) (15)
- Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene–environment interaction approach (2019) (15)
- Genetic diversity of Y‐specific STRs in chimpanzees (Pan troglodytes) (2002) (15)
- Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis (2012) (15)
- A study of East Timor variability using the SNPforID 52-plex SNP panel. (2011) (15)
- Genetic Markers: Association Study in Migraine (1995) (15)
- Allele frequencies for 13 STR's from two Colombian populations: Bogotá and Boyacá. (2003) (15)
- Involvement of hypertrophic cardiomyopathy genes in sudden infant death syndrome (SIDS) (2009) (15)
- Novel Gene-Based Analysis of ASD GWAS: Insight Into the Biological Role of Associated Genes (2019) (15)
- 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 (2010) (14)
- Multiple Sporadic Colorectal Cancers Display a Unique Methylation Phenotype (2014) (14)
- Comparison between isoelectric focusing methods for the detection of orosomucoid phenotypes (1988) (14)
- Estudios de asociación en enfermedades complejas: problemas estadísticos relacionados con el análisis de polimorfismos genéticos (2007) (14)
- Detection of polymorphisms of human DNA after polymerase chain reaction by miniaturized SDS-PAGE. (1992) (14)
- Population genetics of 17 Y-STR markers in West Libya (Tripoli region). (2013) (14)
- FAS system deregulation in T-cell lymphoblastic lymphoma (2014) (14)
- Genetic variability at nine STR loci in the Chueta (Majorcan Jews) and the Balearic populations investigated by a single multiplex reaction (2000) (14)
- Paternal lineages in Libya inferred from Y-chromosome haplogroups. (2015) (14)
- Premorbid Adjustment and IQ in Patients With First-Episode Psychosis: A Multisite Case-Control Study of Their Relationship With Cannabis Use. (2019) (14)
- Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438 (2002) (14)
- Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings (2021) (14)
- The presence of tri-allelic TPOX genotypes in Dominican Population (2009) (14)
- Increased clopidogrel response is associated with ABCC3 expression: a pilot study. (2012) (14)
- Novel genes and sex differences in COVID-19 severity (2022) (14)
- Rare HRAS1 alleles are a risk factor for the development of brain tumors (2001) (13)
- Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC). (2016) (13)
- A review of the collaborative exercises on DNA typing of the Spanish and Portuguese ISFH working group (1997) (13)
- STR-CODIS typing in Greece. (2003) (13)
- Case reportReport on the third EDNAP collaborative STR exercise (1996) (13)
- Catalonian population study of the tetranucleotide repeat loci D3S1358, D8S1179, D18S51 and D19S253 (1998) (13)
- UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes (2021) (13)
- Longitudinal analysis on parasite diversity in honeybee colonies: new taxa, high frequency of mixed infections and seasonal patterns of variation (2020) (13)
- Nilotes from Karamoja, Uganda: haplotype data defined by 17 Y-chromosome STRs. (2010) (13)
- A collaborative study of the EDNAP group regarding Y-chromosome binary polymorphism analysis. (2004) (13)
- Genetic profile characterization of 10 X-STRs in four populations of the southeastern region of Brazil (2010) (13)
- Inferior frontal gyrus white matter abnormalities in obsessive–compulsive disorder (2015) (13)
- Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection (2017) (13)
- Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial (2019) (13)
- BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. (2013) (13)
- Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature (2009) (13)
- The genetic male component of two South-Western Colombian populations. (2009) (13)
- Focus issue--Analysis and biostatistical interpretation of complex and low template DNA samples. (2012) (13)
- Forensic DNA-typing technologies: a review. (2005) (13)
- Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data (2020) (13)
- A maternally inherited 16p13.11‐p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features (2015) (13)
- Population genetics of nine STR loci in two populations from Brazil. (2000) (13)
- Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool (2021) (13)
- The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics (2014) (12)
- Gene-gene interactions between DRD3, MRP4 and CYP2B6 polymorphisms and its influence on the pharmacokinetic parameters of efavirenz in HIV infected patients. (2016) (12)
- A Comparison of Forensic Age Prediction Models Using Data From Four DNA Methylation Technologies (2020) (12)
- SNP genotyping with single base extension-tag microarrays (2004) (12)
- Forensic performance of insertion–deletion marker systems (2011) (12)
- STR data for the AmpFlSTR profiler plus loci from Macau (China). (2001) (12)
- Y-chromosome STR-haplotype typing in El Salvador. (2004) (12)
- Meta-analysis of epigenome-wide association studies in newborns and children show widespread sex differences in blood DNA methylation. (2022) (12)
- Reply to Bortolini et al. (2004) (12)
- High-throughput genotyping assay for the large-scale genetic characterization of Cryptosporidium parasites from human and bovine samples (2013) (12)
- Application of whole genome amplification for forensic analysis (2006) (12)
- Progress in methodology and standards in European molecular genetics laboratories. (1998) (12)
- A SNP multiplex for the simultaneous prediction of biogeographic ancestry and pigmentation type (2011) (12)
- BMPR1A mutations in early‐onset colorectal cancer with mismatch repair proficiency (2013) (12)
- Population data on 15 autosomal STRs in a sample from Colombia. (2009) (12)
- Genetic data on eight STRs (D5S818, D7S820, F13B, LPL, TH01, TPOX, VWA31, CSF1PO) from a Colombian population. (2002) (12)
- The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study. (2017) (12)
- Genetic structure of the Kuwaiti population revealed by paternal lineages (2016) (11)
- Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder (2015) (11)
- Fine-mapping of the HNF 1 B multicancer locus identi fi es candidate variants thatmediate endometrial cancer risk (2015) (11)
- Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience. (2012) (11)
- New method to measure minisatellite variant repeat variation in population genetic studies (2002) (11)
- Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome (2011) (11)
- Double‐ and single‐strand conformation polymorphism analysis of point mutations and short tandem repeats (1994) (11)
- Alterations of gray and white matter morphology in obsessive compulsive disorder. (2017) (11)
- Forensic DNA analysis in Europe: current situation and standardization efforts (1997) (11)
- Experimental Models to Study Autism Spectrum Disorders: hiPSCs, Rodents and Zebrafish (2020) (11)
- Ancestry analysis in rural Brazilian populations of African descent. (2018) (11)
- Relative efficiency of the linkage disequilibrium mapping approach in detecting candidate genes for schizophrenia in different European populations. (2005) (11)
- Normal and anomalous electrophoretic behavior of polymerase chain reaction‐based DNA polymorphisms in polyacrylamide gels (1998) (11)
- Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes (2011) (11)
- The search process: Integrating the investigation and identification of missing and unidentified persons (2021) (11)
- Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations. (2011) (11)
- Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4) (2003) (11)
- Assessment of genotyping tools applied in genetic susceptibility studies of periodontal disease: A systematic review. (2018) (11)
- Native American gene continuity to the modern admixed population from the Colombian Andes: Implication for biomedical, population and forensic studies. (2018) (10)
- STR data for the AmpFlSTR Profiler Plus loci from Greece. (2002) (10)
- Epidemiological trends of histopathologically WHO classified CNS tumors in developing countries: systematic review. (2015) (10)
- Microsatellite autosomal genotyping data in four indigenous populations from El Salvador. (2007) (10)
- Publications and letters related to the forensic genetic analysis of low amounts of DNA. (2011) (10)
- Electrochemical DNA base pairs quantification and endonuclease cleavage detection. (2011) (10)
- Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers (2022) (10)
- Distribution of the Pi, TfC, and Gc subtypes in Galicia (North West Spain) (2005) (10)
- TWEAK Signaling Pathway Blockade Slows Cyst Growth and Disease Progression in Autosomal Dominant Polycystic Kidney Disease (2021) (10)
- HLA-DRB1*15:01 allele protects from asthma susceptibility. (2014) (10)
- Progress in pharmacogenetics: consortiums and new strategies (2016) (10)
- Population specific single nucleotide polymorphisms (2004) (10)
- Sequence structure of 12 novel Y chromosome microsatellites and PCR amplification strategies (2003) (10)
- Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula (2019) (10)
- A Review of the Collaborative Exercises of the Spanish and Portuguese ISFH Working Group (1996) (10)
- Allele frequencies of 20 STRs from Northwest Spain (Galicia). (2012) (10)
- Population data on the loci LDLR, GYPA, HBGG, D7S8, and GC in three southwest European populations. (1996) (10)
- Global population variability in Promega PowerPlex CS7, D6S1043, and Penta B STRs (2013) (10)
- Variability of multi-omics profiles in a population-based child cohort (2021) (10)
- Sequence variation of a variable short tandem repeat at the D18S535 locus (1998) (10)
- Sequence variation of two hypervariable short tandem repeats at the D22S683 and D6S477 loci (2000) (10)
- Y-chromosome haplotype analysis in Antioquia (Colombia). (2005) (10)
- 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. (2003) (9)
- Guidelines for mitochondrial DNA typing. DNA Commission of the International Society for Forensic Genetics. (2000) (9)
- The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals (2014) (9)
- Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum (2019) (9)
- Multi-omics signatures of the human early life exposome (2021) (9)
- Data for nine autosomal STRs markers (CSF1PO, D13S31, D16S539, D7S820, F13A01, FESFPS, TH01, vWA, TPOX) from Venezuela. (2002) (9)
- A multicenter prospective study evaluating the impact of Proton Pump Inhibitors omeprazole and pantoprazole on voriconazole plasma concentrations. (2020) (9)
- Association of GSTP1 and ERCC1 polymorphisms with toxicity in locally advanced head and neck cancer platinum‐based chemoradiotherapy treatment (2019) (9)
- Allele distribution of three STRs in a population from Mozambique (1999) (9)
- Impact of CYP2C19 Genotype and Drug Interactions on Voriconazole Plasma Concentrations: A Spain Pharmacogenetic‐Pharmacokinetic Prospective Multicenter Study (2019) (9)
- A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. (2011) (9)
- Phylogeography of French male lineages (2009) (9)
- Autism spectrum symptoms in Smith–Magenis syndrome and Williams syndrome: comparisons and contrasts (2015) (9)
- Genetic epistasis in female suicide attempters (2012) (9)
- Gene-based analysis of ADHD using PASCAL: a biological insight into the novel associated genes (2019) (9)
- Altered functional connectivity of the default mode network in Williams syndrome: a multimodal approach. (2016) (9)
- Novel truncating variants expand the phenotypic spectrum of KAT6B‐related disorders (2019) (9)
- Isoelectric focusing of human hair keratins: correlation with sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) patterns and effect of cosmetic treatments. (1992) (9)
- Anomalous Electrophoretic Behaviour of HUMACTBP2 (SE33) (1994) (9)
- Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes (2020) (9)
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- Large scale analysis of HCM mutations in sudden cardiac death (2008) (8)
- High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families (2014) (8)
- Characterization of single nucleotide polymorphisms of cytochrome p450 in an Australian deceased sample. (2012) (8)
- Allele Frequency in the Population of Spain Using Several Single Locus Probes (1992) (8)
- Evidence, and replication thereof, that molecular-genetic and environmental risks for psychosis impact through an affective pathway (2020) (8)
- Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review (2021) (8)
- Association between CASP8 –652 6N Del Polymorphism (rs3834129) and Colorectal Cancer Risk: Results from a Multi-Centric Study (2014) (8)
- Distribution of the HLA-DQA1 polymorphism in the population of the Basque Country (Spain). (1995) (8)
- Nine autosomal STRs genotype profiles in a sample from Córdoba (Argentina). (2004) (8)
- Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) (2016) (8)
- Population distribution of six PCR-amplified loci in Madeira Archipelago (Portugal). (1999) (8)
- Significance of micro-geographical population structure in forensic cases: a bayesian exploration (2003) (8)
- Autosomic STR population data in two Caribbean samples from Colombia. (2005) (8)
- Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants (2017) (8)
- Nineteen autosomal microsatellite data from Antioquia (Colombia). (2004) (8)
- Pharmacogenetic analysis of SNPs in genes involved in the pharmacokinetics and response to lopinavir/ritonavir therapy. (2013) (8)
- Orosomucoid (ORM1 and ORM2) types in the Spanish Basque Country, Galicia and northern Portugal. (1990) (8)
- Forensic validation of the Genplex SNP typing system—Results of an inter-laboratory study (2008) (7)
- Autosomal microsatellite data from Northwestern Colombia. (2006) (7)
- Characterization of U.S. population samples using a 34plex ancestry informative SNP multiplex (2011) (7)
- Ancestry vs physical traits: the search for ancestry informative markers (AIMs) (2006) (7)
- Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states (2016) (7)
- SDCBP Modulates Stemness and Chemoresistance in Head and Neck Squamous Cell Carcinoma through Src Activation (2021) (7)
- Genome-wide association study identifies new locus associated with OCD (2021) (7)
- Manual electrophoretic methods for genotyping amplified STR loci. (1998) (7)
- Fine mapping of the myosin light chain kinase (MYLK) gene replicates the association with asthma in populations of Spanish descent. (2015) (7)
- Using STR, MiniSTR and SNP markers to solve complex cases of kinship analysis (2013) (7)
- The archaeogenetics of the dispersals of the Bantu-speaking people (2004) (7)
- GEP proficiency testing program in forensic genetics: 10 years of experience (2004) (7)
- A sensitive issue: Pyrosequencing as a valuable forensic SNP typing platform (2006) (7)
- Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model (2003) (7)
- Human genetics: international projects and personalized medicine (2016) (7)
- Pharmacogenomics of CRC treatments: putting bricks on the path to personalized medicine (2014) (7)
- Genetic characterization of 52 autosomal SNPs in the Portuguese population (2008) (7)
- 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. (2015) (7)
- Assessing microsatellite instability with semiautomated fluorescent technology: Application to the analysis of primary brain tumors (2000) (7)
- Genetic data of 10 X-chromosomal loci in Vitória population (Espírito Santo State, Brazil) (2009) (7)
- An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders. (2015) (7)
- Toxicogenetics of lopinavir/ritonavir in HIV-infected European patients. (2014) (7)
- [18F-fluoro-L-DOPA PET-CT imaging combined with genetic analysis for optimal classification and treatment in a child with severe congenital hyperinsulinism]. (2008) (6)
- Tumor Profiling at the Service of Cancer Therapy (2021) (6)
- Cognitive Profile in Williams Syndrome: A Case Study (2005) (6)
- Pharmacogenetic studies on the antipsychotic treatment. Current status and perspectives. (2010) (6)
- Genetic polymorphism of 15 STR loci in central western Colombia. (2008) (6)
- HRAS1 minisatellite alleles in colorectal carcinoma: relationship to microsatelite instability. (2001) (6)
- Review of Pharmacokinetics and Pharmacogenetics in Atypical Long-Acting Injectable Antipsychotics (2021) (6)
- Development of a multiplex PCR assay detecting 52 autosomal SNPs (2006) (6)
- affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling (2015) (6)
- Motherless case in paternity testing by Lee et al. (2002) (6)
- Pharmacogenomics of anti-platelet therapy focused on peripheral blood cells of coronary arterial disease patients. (2013) (6)
- Frequency and Distribution of Pi, Gc, Tf and PLG Subtypes by Isoelectric Focusing in Barcelona (1986) (6)
- Remission of obesity and insulin resistance is not sufficient to restore mitochondrial homeostasis in visceral adipose tissue (2022) (6)
- Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy. (2010) (6)
- Study of the HLA DQα polymorphism in the population of Catalonia (Spain) (1992) (6)
- Genetic analysis of autosomal and Y-specific STRs in the Karimojong population from Uganda (2006) (6)
- Population study of HUMTH01, HUMVWA31/A, HUMF13A1, and HUMFES/FPS systems in Azores. (1999) (6)
- A replication study of JTC bias, genetic liability for psychosis and delusional ideation (2020) (6)
- Corrigendum: Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing (2016) (6)
- Editorial on the recommendations of the DNA commission of the ISFG on the interpretation of mixtures. (2006) (6)
- Female patient with autistic disorder, intellectual disability, and co‐morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2–q13.31 microdeletion (2015) (6)
- Problemas y retos de futuro de la genética forense en el siglo XXI (2010) (6)
- Analysis of the SNPforID 52-plex markers in four Native American populations from Venezuela. (2012) (6)
- Catalonian population study of the tetranucleotide repeat loci D 3 S 1358 , D 8 S 1179 , D 18 S 51 and D 19 S 253 (6)
- Correlation between native and desialyzed forms of orosomucoid. (1988) (6)
- Definition of a region of loss of heterozygosity at chromosome 11q in cervical carcinoma. (1999) (6)
- [Studies of association in complex diseases: statistical problems related to the analysis of genetic polymorphisms]. (2007) (6)
- Genetic patterns of 10 X chromosome short tandem repeats in an Asian population from Macau (2009) (6)
- Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy. (2021) (6)
- Differentiation of African components of ancestry to stratify groups in a case-control study of a Brazilian urban population. (2012) (5)
- Interaction between the functional SNP rs2070951 in NR3C2 gene and high levels of plasma corticotropin-releasing hormone associates to postpartum depression (2019) (5)
- D12S391: A Highly Useful STR for Forensic Purposes (1996) (5)
- The distribution of HLA DQA1 and D1S80 (pMCT118) alleles and genotypes in the populations of Galicia and Central Portugal (2005) (5)
- Prevalence of CYP2C9 polymorphisms in the south of Europe (2010) (5)
- Obesity-Related Genetic Determinants of Heart Failure Prognosis (2019) (5)
- Comparison Between Universal Immunohistochemistry for Mismatch Repair Proteins Versus Revised Bethesda Guidelines in the Detection of Patients With Lynch Syndrome (2011) (5)
- Distribution of allele frequencies of 20 STRs loci in a population sample from Calabria, Southern Italy. (2012) (5)
- Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability (2022) (5)
- 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 (2015) (5)
- A simulation-based approach to evaluate population stratification in Argentina (2008) (5)
- Forensic Genetics: History (2013) (5)
- Identification of blood autosomal cis-expression quantitative trait methylation (cis-eQTMs) in children (2020) (5)
- Efficacy and toxicity of adjuvant chemotherapy on colorectal cancer patients: how much influence from the genetics? (2020) (5)
- Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths. (2019) (5)
- Karyological and allozymic study of Allolobophora molleri complex and related taxa. Initial results (1992) (5)
- The use of scanning electron microscopy in the examination of seminal stains. (1982) (5)
- Linkage analysis in a large Spanish family with X‐linked retinitis pigmentosa: phenotype—genotype correlation (1998) (5)
- [Autistic syndrome associated with refractory temporal epilepsy]. (1995) (5)
- The association between cannabis use and facial emotion recognition in schizophrenia, siblings, and healthy controls: Results from the EUGEI study (2022) (5)
- Genome-wide association study of stage III/IV grade C periodontitis (former aggressive periodontitis) in a Spanish population. (2021) (5)
- PIMA: A population informative multiplex for the Americas. (2019) (5)
- Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la región de los síndromes de microdeleción/microduplicación 3q29 (2015) (5)
- tagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries (2018) (5)
- Population pharmacokinetic/pharmacogenetic model of lopinavir/ritonavir in HIV-infected patients. (2014) (5)
- A multiplex PCR design for simultaneous genotyping of X chromosome short tandem repeat markers (2006) (5)
- Analysis of Y chromosome lineages in native South American population (2006) (5)
- Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome (2015) (5)
- Corrigendum: Reconstructing Native American population history (2012) (4)
- Forensic validation and implementation of Y-chromosome SNP multiplexes (2008) (4)
- The ‘Pokemon’ (ZBTB7) Gene: No Evidence of Association with Sporadic Breast Cancer (2008) (4)
- Population study of eight novel Y-chromosome STRs (DYS460, DYS461, GATA-A10, GATA-C4, GATA-H4, DYS434, DYS437, DYS439) in a southeast Iberian population: looking for highly informative Y-chromosome haplotypes (2003) (4)
- GDF: Dealing with High-throughput Genotyping Multiplatform Data for Medical and Population Genetic Applications (2012) (4)
- Large-scale single nucleotide polymorphism analysis of candidates for low-penetrance breast cancer genes (2005) (4)
- Analysis of STR loci in Cartagena, a Caribbean city of Colombia. (2006) (4)
- Author Correction: Neutrophil to lymphocyte ratio and breast cancer risk: analysis by subtype and potential interactions (2020) (4)
- Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics (2017) (4)
- Liquid Biopsy Biomarkers for Immunotherapy in Non-Small Cell Lung Carcinoma: Lessons Learned and the Road Ahead (2021) (4)
- The typing of α1-antitrypsin in human bloodstains by isoelectric focusing (1982) (4)
- [Retinitis pigmentosa: results of rhodopsin gene analysis in the Galician population]. (2000) (4)
- Executive impairments in Obsessive Compulsive Disorder: A systematic review with emotional and non-emotional paradigms. (2020) (4)
- Analysis of 29 Y-chromosome SNPs in a single multiplex useful to predict the geographic origin of male lineages (2006) (4)
- Candidate predisposing germline copy number variants in early onset colorectal cancer patients (2017) (4)
- Development and validation of a next generation STR ESS-pentaplex (2009) (4)
- Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study (2021) (4)
- Micro and macro geographical analysis of Y-chromosome lineages in South Iberia. (2017) (4)
- AN ASSESSMENT OF LINKAGE BETWEEN FORENSIC MARKERS : CORE STRS , MINI-STRS AND INDELS (2012) (4)
- Long runs of homozygosity are associated with Alzheimer’s disease (2021) (4)
- SUMO4 and MAP3K7IP2 single nucleotide polymorphisms and susceptibility to rheumatoid arthritis. (2006) (4)
- 29 Y-chromosome SNP analysis in European populations (2004) (4)
- Long runs of homozygosity are associated with Alzheimer’s disease (2021) (4)
- Whole exome sequencing approach to analysis of the origin of cancer stem cells in patients with head and neck squamous cell carcinoma (2018) (4)
- The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study (2021) (4)
- MALDI-TOF mass spectrometry-based assay for CFTR gene mutation analysis in cystic fibrosis newborn screening programs (2009) (4)
- DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome short tandem repeats (2001) (4)
- Predictive value of ERCC2, ABCC2 and MMP2 of response and long-term survival in locally advanced head and neck cancer patients treated with chemoradiotherapy (2021) (4)
- The Usefulness of Chelating Resins for DNA Extraction from Forensic Material Prior to PCR Amplification (1992) (4)
- The early-life exposome modulates the effect of polymorphic inversions on DNA methylation (2022) (4)
- Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children’s blood (2022) (4)
- Two Different Genetic Markers for High and Low Myopia (1992) (4)
- Rapid microarray-based typing of forensic SNPs (2006) (4)
- A forensic multiplex of nine novel pentameric-repeat STRs. (2017) (4)
- Development of New STRs for Forensic Casework: Criteria for Selection, Sequencing & Population Data and Forensic Validation (1999) (4)
- Results of the 2008 Colombian paternity testing quality control exercise (2009) (4)
- Gray matter morphological alteration in Obsessive Compulsive Disorder: evidence for an inhibitory control and emotional regulation disorder (2016) (4)
- Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH 2 B 3 and TSHZ 1 (2015) (4)
- Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) (2007) (4)
- Report on the third EDNAP collaborative STR exercise. European DNA Profiling Group. (1996) (4)
- Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11 (2015) (4)
- Examining facial emotion recognition as an intermediate phenotype for psychosis: Findings from the EUGEI study (2021) (4)
- Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples (2018) (4)
- The archaeogenetics of the Bantu dispersals (2004) (4)
- Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer (2021) (3)
- Differences in Y-chromosome haplotype frequencies at the microgeographical level (2003) (3)
- CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families (2013) (3)
- Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36) (2020) (3)
- The distribution of allele frequencies of 15 STRs in Dominican population (2008) (3)
- Genetic variability of the SNPforID 52-plex identification SNP panel in Italian population samples. (2012) (3)
- 160Thr Mutation in the Rhodopsin Gene Associated withRet initis pigmentosa (1998) (3)
- Genetic data on three complex STRs (ACTBP2, D21S11 and HUMFIBRA/FGA) in the Galician population (NW Spain) (1999) (3)
- Genotyping coding region mtDNA SNPs for Asian and Native American haplogroup assignation (2006) (3)
- Data for nine autosomal STRs markers from Valencia (East Mediterranean coast of the Iberian Peninsula). (2001) (3)
- Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer’s disease and three causality networks of AD: the GR@ACE project (2019) (3)
- Morphometric and Connectivity White Matter Abnormalities in Obsessive Compulsive Disorder (2017) (3)
- Genetic counselling in neurology: a complex problem that requires regulation. (2011) (3)
- Genomic Characterization of Host Factors Related to SARS-CoV-2 Infection in People with Dementia and Control Populations: The GR@ACE/DEGESCO Study (2021) (3)
- Comparison of different electrophoretic methods for digital typing of the MS32 (D1S8) locus (1996) (3)
- Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (2019) (3)
- Databases for neurogenetics: Introduction, overview, and challenges (2012) (3)
- Longitudinal Assessment of Narrative Profile in a Williams Syndrome Patient (2011) (3)
- Y-chromosome STRs in populations of Bantu origin from Mozambique: male contribution to the Africa genetic pool and forensic implications (2003) (3)
- The proficiency testing program on DNA typing of the Spanish and Portuguese working group of the International Society for Forensic Genetics (2003) (3)
- Three novel mutations in the CFTR gene identified in Galician patients. (2008) (3)
- The effect of whole genome amplification on samples originating from more than one donor (2006) (3)
- Behavior of loci D1S1656 and D12S391 in a sample from Maracaibo, Venezuela (2003) (3)
- Chapter 23 Forensic analysis (2004) (3)
- Genetic variability of 17 Y chromosome STRs in two Native American populations from Argentina (2006) (3)
- Study of HUMACTBP2 STR Polymorphism, Performed by PCR and Automated Laser Fluorescence (ALF) Sequencer in a Population Sample of Catalonia (1996) (3)
- CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative (2022) (3)
- Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) (2016) (3)
- Exploring the biological role of postzygotic and germinal de novo mutations in ASD (2021) (3)
- SDS-PAGE Typing of HLA-DQA1 and pMCT118 after PCR Amplification (1992) (3)
- Discovery of a novel and a rare Kristen rat sarcoma viral oncogene homolog (KRAS) gene mutation in colorectal cancer patients (2021) (3)
- Relative Y-STR mutation rates estimated from the variance inside SNP defined lineages (2006) (3)
- Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) (2016) (3)
- The value of genetic polymorphisms to predict toxicity in metastatic colorectal patients with irinotecan-based regimens. (2011) (3)
- Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36) (2020) (3)
- GEP-ISFG proficiency testing programs: 2007 update (2008) (3)
- Allele Frequency Distribution of 15 PCR-Based DNA Polymorphisms in the Population of Galicia (NW Spain) (1996) (2)
- ZBTB7 HapMap in a worldwide population study (2005) (2)
- Overlapping variants in the blood, tissues and cell lines for patients with intracranial meningiomas are predominant in stem cell-related genes (2020) (2)
- Síndrome de Williams (2013) (2)
- P0339 - Suicide attempts in bulimia nervosa: Personality, Psychopathological and Genetic correlates (2008) (2)
- Beyond the CSI effect: Keys for good forensic genetics communication (2018) (2)
- Differential admixture in Latin American populations and its impact on the study of colorectal cancer (2020) (2)
- 107 Somatic MLH1 Promoter Hypermethylation Is a Frequent Event in Lynch Syndrome Colorectal Cancers (2013) (2)
- A simplified procedure for simultaneous detection of salivary proteins and its application in paternity testing. (1987) (2)
- Introducing the Forensic Science International: Genetics Reviewer Hall of Fame. (2018) (2)
- Length variability and interspersion patterns of the HRAS1 minisatellite: a new approach for the reconstruction of human population relationships (2001) (2)
- The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment? (2020) (2)
- ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy (2017) (2)
- An Update of In Silico Tools for the Prediction of Pathogenesis in Missense Variants (2011) (2)
- Phenotypic markers for forensic purposes (2020) (2)
- Dissection of mitochondrial haplogroup H using coding region SNPs (2006) (2)
- High-density screening of the Zbtb7 gene in breast cancer patients (2005) (2)
- Study of the Polymorphic Variants of AcP, PGM1 and GLO in the Population of Barcelona (Spain) (1986) (2)
- Announcement of Population Data 16 STR data of a Greek population (2008) (2)
- Erratum to ¿Analysis of the CODIS autosomal STR loci in four main Colombian regions¿ [Forensic Sci. Int. 137 (2003) 67¿73] (2004) (2)
- Population study of the STRs HUMTH01 (including a new variant) and HUMVWA31A in Catalonia (northeast Spain) (2006) (2)
- Analysis of pharmacogenetic biomarkers in rectal patients trated with chemoradiotherapy. (2009) (2)
- SNP typing of forensic samples with the GenPlex™ HID system: A collaborative study (2009) (2)
- Sequence variation at three X chromosomal short tandem repeats in Caucasian and African populations (2008) (2)
- Population studies using single nucleotide polymorphisms—how important is detailed sample origin information? (2004) (2)
- Microgeographic patterns of highly informative Y-chromosome haplotypes (using biallelic markers and STRs) in Galicia (NW Spain): forensic and anthropological implications (2003) (2)
- Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis (2015) (2)
- Plasma protein and red cell enzyme groups in Galicia (North West Spain) (2004) (2)
- A genome-wide association study of COVID-19 related hospitalization in Spain reveals genetic disparities among sexes (2021) (2)
- Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula (2019) (2)
- Asesoramiento genético en Neurología: un problema complejo que necesita regulación (2011) (2)
- Chapter 28 Forensic DNA typing technologies: a review (2008) (2)
- Use of ancestry-informative markers as a scientific tool to combat the illegal traffic in human kidneys (2015) (2)
- The situation of forensic DNA analysis in Spain (1997) (2)
- Study of a Colombian Family with Hypertrophic Cardiomyopathy and Sudden Cardiac Death Associated with the Lys247arg Mutation in the Cardiac Troponin T (Tnnt2) Gene: Casual Relationship or Polymorphism? (2014) (2)
- Neuropsychological performance and predictors of pharmacological treatment response in obsessive compulsive disorder. (2022) (2)
- Making progress in education: The EUROFORGEN master degree pilot project in forensic genetics. (2017) (2)
- Minisatellite variant repeat (MVR) analysis of the HRAS1 minisatellite locus (1998) (2)
- Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon (2021) (2)
- Forensic considerations on STR databases in Argentina (2006) (2)
- Rapid Detection of Gene Duplications in Charcot-Marie-Tooth 1A Disease by SNP Genotyping Using Real-Time PCR (2004) (2)
- A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian admixture population (2017) (2)
- Isoelectric focusing of Pi subtypes in bloodstains. (1986) (2)
- Exploring genetic variants in obsessive compulsive disorder severity: A GWAS approach. (2020) (2)
- Typing mtDNA SNPs of forensic and population interest with snapshot (2004) (2)
- Exploring mitochondrial DNA variation in the Italian Peninsula (2008) (2)
- Fast isoelectric focusing of some polymorphic proteins and enzymes in miniaturized gels using an automated system. (1988) (2)
- Detection of Single Base Changes in PCR-Amplified DNA Using Double and Single Strand Conformational Polymorphisms (SSCP and DSCP) (1996) (1)
- A genome-wide association study of survival in patients with sepsis (2022) (1)
- Cognitive profile in William syndrome: a case study (2005) (1)
- Mitochondrial DNA variability patterns in Southeast Africa and forensic implications (2003) (1)
- [Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE]. (2022) (1)
- University of Groningen Estimating Exposome Score for Schizophrenia Using Predictive Modeling Approach in Two Independent Samples Genetic Risk and Outcome of Psychosis (2020) (1)
- Minisatellite variant repeat coding using a semiautomatic system. (1997) (1)
- Examining the association between exposome score for schizophrenia and cognition in schizophrenia, siblings, and healthy controls: Results from the EUGEI study (2023) (1)
- S1984 Case-Control Genetic Association Study of Candidates Genes for Genetic Susceptibility to Colorectal Cancer (2010) (1)
- P541 Diagnosis, management, and evolution of acute pancreatitis secondary to thiopurines in patients with Inflammatory Bowel Disease: an ENEIDA registry study (2023) (1)
- Applications in forensic science (2007) (1)
- Subject Index, Vol. 40, 1990 (1990) (1)
- Semiparametric approach to match probability calculations using single locus probes (2006) (1)
- Improved Diagnosis of Orosomucoid (ORM) Phenotypes by isoelectric focusing in immobilized pH gradients. Comparison with other phenotyping methods (1988) (1)
- PD-0531 SNPS IN DNA REPAIR AND DAMAGE DETECTION GENES AND ACUTE NORMAL TISSUE TOXICITY IN PROSTATE CANCER PATIENTS (2012) (1)
- Genetic characterization of 52 autosomal SNPs in two sub-Saharan African populations (2008) (1)
- Genetic variants related to nicotine dependence (2011) (1)
- Utility of Circulating Cell-Free DNA in Assessing Microsatellite Instability and Loss of Heterozygosity in Breast Cancer Using Human Identification Approach (2022) (1)
- Viability Study of Machine Learning-Based Prediction of COVID-19 Pandemic Impact in Obsessive-Compulsive Disorder Patients (2022) (1)
- Su1813 Susceptibility Genetic Variants Associated With Early-Onset Colorectal Cancer (2012) (1)
- Reproducibility of mtDNA analysis between laboratories (1998) (1)
- Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes (2018) (1)
- Mixture analysis using SWaP™ SNPs and non-biallelic SNPs (2006) (1)
- Genome-wide association study of germline variants and breast cancer-speci fi c mortality (2019) (1)
- Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation. (2019) (1)
- The distribution of Y-chromosome STRs in Dominican population (2008) (1)
- A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death. (2019) (1)
- Genome-wide association identifies a new susceptibility locus at 4q35 associated with clinical vertebral fractures in post-menopausal women: the GEFOS-GENOMOS consortium (2013) (1)
- LIPG endothelial lipase and breast cancer risk by subtypes (2021) (1)
- Corrigendum to “Y-chromosome STR-haplotype typing in EI Salvador [Forensic Sci. Int. 142 (1) (2004) 45–49]” (2005) (1)
- International recommendations for paternity testing standards. (2002) (1)
- Mutational analysis of BRCA1 and BRCA2 genes in Spanish women with early-onset breast cancer (2000) (1)
- 16th Congress of the International Society for Forensic Haemogenetics (Internationale Gesellschaft für forensische Hämogenetik e.V.), Santiago de Compostela, 12–16 September 1995 (1996) (1)
- The Complexity of Colorectal Cancer Biology — Putting Bricks on the Path to Personalized Medicine (2014) (1)
- Microgeographic substructure of Northern Portuguese mitochondrial DNA lineages: the female perspective of this region history (2004) (1)
- Differential Features of Colorectal Cancer (CRC) in Patients With Probable Non-Sporadic Mismatch Repair Deficiency Without Germline Mutation (2011) (1)
- Population structure and relatedness estimates in a Mexican sample (2021) (1)
- Microgeographic mitochondrial DNA patterns in the South of Iberia (2006) (1)
- [DNA databases for criminal investigation purposes: technical aspects and ethical-legal problems]. (1998) (1)
- Fine-mapping of the HNF1Bmulticancer locus identifies candidate variants thatmediate endometrial cancer risk (2015) (1)
- Significant differences between the Leeward and Windward groups of the Cabo Verde archipelago (West African Coast) (2003) (1)
- Ancestry analysis using autosomal SNPs in northern South America, reveals interpretation differences between an AIM panel and an identification panel. (2021) (1)
- Education and training for the judiciary: The Spanish initiative. (2020) (1)
- Rapidly mutating Y-chromosomal STRs (2012) (1)
- [Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks]. (2015) (1)
- The MVR-PCR Approach for the Typing of the MS32 Locus: Usefulness and Technical Problems (1996) (1)
- From Hemogenetics to Forensic Genomics (2017) (1)
- Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo (2015) (1)
- Role of Tumor Tissue Analysis in Rectal Cancer Pharmacogenetics (2011) (1)
- Finding genes that underlie cancer using genetic tools (2006) (1)
- S1993 Comparison Between Routine Immunohistochemistry for Mismatch Repair Proteins Versus Revised Bethesda Guidelines in the Diagnosis of Lynch Syndrome in a Non-Selected Population of Colorectal Cancer Patients (2010) (1)
- DNA Polymorphisms in Dental Pulp: Effect of Environmental Factors (1996) (1)
- Length variability and interspersion patterns of the HRAS1 minisatellite: a new approach for the reconstruction of human population relationships. (2001) (1)
- Transthyretin-related amyloidosis affecting the vitreous : Genetic diagnosis and therapy in a case (1999) (1)
- Identification of Novel Regulators of Zalcitabine-Induced Neuropathic Pain. (2021) (1)
- La valoración estadística de la prueba de ADN para juristas (2013) (1)
- Genética y medicina de familia (2017) (1)
- The typing of alpha 1-antitrypsin in human bloodstains by isoelectric focusing. (1982) (1)
- Population data of 52 autosomal SNPs in Italian population (2009) (1)
- Investigation of the STR locus HUMTH01 using PCR in Caucasian samples from England and Galicia, NW Spain (1994) (1)
- Semiparametric Density Estimation with Applications to DNA Profiling (1994) (1)
- Correlación fenotipo neuroanatómico y neurocognitivo en el síndrome de Williams (2013) (1)
- 1172 Colorectal Cancer eQTLs as Susceptibility Loci Candidates (2012) (1)
- Genetic analysis of Sephardic ancestry in the Iberian Peninsula (2018) (1)
- Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants (2018) (1)
- Mendelian randomization confirms the role of Y-chromosome loss in Alzheimer's Disease etiopathogenesis in males (2022) (1)
- A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12 (2013) (1)
- Novel Genomic Approach to the Arrhytmogenic Sudden Cardiac Death (2012) (0)
- Postzygotic and germinal de novo mutations in ASD: exploring their biological role (2020) (0)
- Visuo-spatial recognition in Williams syndrome: dissociative performance in non-motor tasks? (2005) (0)
- Forensic Science International: Genetics reviewer Hall of Fame 2018. (2019) (0)
- Genetic susceptibility to CRC (2022) (0)
- Contents, Vol. 40, 1990 (1990) (0)
- Polymorphism of human orosomucoid (ORM) by hybrid isoelectric focusing and print lectinofixation. (1989) (0)
- New challenges in forensic genetics (2007) (0)
- Ethical publication of research on genetics and genomics of biological material: guidelines and recommendations (2020) (0)
- Pharmacogenomics of CRC treatments: putting bricks on the path to personalized medicine (2014) (0)
- Rapid communication The genetic male legacy from El Salvador (2007) (0)
- Inconclusive CF diagnosis in Neonatal Screening (2009) (0)
- Large-scale mutation screening in sudden cardiac death (SCD) (2014) (0)
- - Brun Mitochondrial Electron Transport Chain Supercomplex Assembly Determines Electron Flux in (2014) (0)
- 7.3 Comparison of eight different silver staining methods for the detection of polymorphic proteins in bloodstains after isoelectric focusing (1983) (0)
- Introducing the Forensic Science International: Genetics Reviewer Hall of Fame. (2018) (0)
- Correction: Association between CASP8 –652 6N Del Polymorphism (rs3834129) and Colorectal Cancer Risk: Results from a Multi-Centric Study (2014) (0)
- Achievement of Interlaboratory Uniformity — A Summary of Work Carried out by the EDNAP Group (1992) (0)
- Sequenom MassArray™ application in the long QT syndrome mutation detection (2009) (0)
- Polygenic risk score as a key factor in cardiovascular clinical prediction models. (2020) (0)
- Abstract 1334: Implication of the 3′UTR region of TGFβR1 with MSS HNPCC and sporadic colorectal cancer. (2013) (0)
- Introducing the Forensic Science International: Genetics Reviewer Hall of Fame. (2018) (0)
- Sa1774 Prevalence of MLH1 Constitutional Epimutations as a Cause of Lynch Syndrome in Unselected Consecutive Cases of Colorectal Cancer (2012) (0)
- Y-chromosomal and mitochondrial markers: A comparison between four population groups of Italy (2006) (0)
- GATA C4 allele 17 as a marker for sub-Saharan origin of Y-chromosome lineages (2004) (0)
- Erratum: COGENT (COlorectal cancer GENeTics): An international consortium to study the role of polymorphic variation on the risk of colorectal cancer (British Journal of Cancer 102 (447-454) DOI: 10.1038/sj.bjc.6605338)) (2010) (0)
- In situ characterization of stem cells-like biomarkers in meningiomas (2018) (0)
- Mosaic maternal ancestry in the Great Lakes region of East Africa (2015) (0)
- Journal Update and Reviewer Acknowledgement. (2016) (0)
- HRAS1 minisatellite alleles and breast cancer in Spanish women under age forty years (2000) (0)
- Initial study of candidate genes on chromosome two for relative hand skill (2006) (0)
- DNA test evaluation in large-scale identification cases of missing persons (2022) (0)
- BRCA1 and BRCA2 mutations in breast and breast/ovarian cancer families from Galicia (NW Spain) (2001) (0)
- New Variation in Low-Sulfur Keratins Detected by Hybrid Isoelectric Focusing (HIEF) (1992) (0)
- High‐Throughput Genotyping Technologies for Pharmacogenetics (2012) (0)
- Genetics in forensics (2009) (0)
- M1953 Frequency and Characteristics of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and Other Non-Syndromic Colorectal Cancer (CRC) Familial Forms in Spain. Preliminary Data of a Prospective, Multicenter, Population-Based Study (Epicolon-II) (2009) (0)
- S2045796020000943jra 1..10 (2020) (0)
- The Role of Colorectal Cancer Risk Chromosomal Regions in Colombian Admixed Populations (2018) (0)
- Cumulative impact of 10 common genetic variants on colorectal cancer risk in 42,333 individuals from eight populations (2013) (0)
- Title COGENT ( COlorectal cancer GENeTics ) : An international consortium to study the role of polymorphic variation on the risk of colorectal cancer (2009) (0)
- UTMOST, A Novel Single And Cross-Tissue TWAS (Transcriptome Wide Association Study), Reveals New ASD (Autism Spectrum Disorder) Associated Genes (2020) (0)
- Pharmacogenetics Study of TMPT and ITPA Genes in Patients With Inflammatory Bowel Disease Treated With Azathioprine Detects Relation Between Itpase Deficiency and Clinical Response (2011) (0)
- COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer (2010) (0)
- Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (2020) (0)
- SEDNA: A computer program for semiparametric estimation of densities and match probabilities in DNA forensic identification and paternity cases (1996) (0)
- 106 Implication of the 3′Utr Region of TGFβR1 With MSS HNPCC and Sporadic Colorectal Cancer (2013) (0)
- Fast IEF of some polymorphic proteins and enzymes in bloodstains using the PhastSystem (1990) (0)
- Subject Index, Vol. 38, 1988 (1988) (0)
- Abstract 139: Alcohol and breast cancer subtypes in a Spanish cohort. (2013) (0)
- The use of non-carboxymethylated keratins for the individual identification of human hair. (1989) (0)
- Autosomal Recessive Alzheimer’s disease (arAD): homozygosity mapping of genomic regions containing arAD loci (2020) (0)
- Su1997 Colorectal Cancer With Methylator Phenotype. Clinical Characterisitics, Prognosis and Response to Adjuvant Chemotherapy (2015) (0)
- Variants in S1P and ABCG1 genes are novel independent risk factors for dyslipidemia (2011) (0)
- Application of pelletized sodium borohydride in the spectrophotometric determination of arsenic. (1982) (0)
- Casework application of a stand-alone pentaplex assay of extended-ESS STRs. (2013) (0)
- TWO DIFFERENT MECHANISMS ARE INVOLVED IN THE POLYMORPHISM SHOWN BY THE LOCUS D2S44 (1994) (0)
- A polygenic risk score for mosaic loss of chromosome Y susceptibility is associated with higher risk of MCI to AD conversion (2021) (0)
- Increasing the discrimination power of the mtDNA test through the analysis of a large set of haplogroup H coding region SNPs: Forensic applications and validation (2008) (0)
- 767 Genotype-Phenotype Correlation of Genetic Susceptibility Variants Identified Through Genome-Wide Association Studies for Colorectal Cancer (2009) (0)
- Improved Diagnosis of Antitrypsin Subtypes by Ultranarrow Immobilized pH Gradients (1986) (0)
- Asociación entre la frecuencia del apellido y la variabilidad del cromosoma Y en España (2015) (0)
- Child Molecular Signatures of the Early Life Exposome in HELIX (2018) (0)
- 675 Unveiling of DNA Repair Gene Alterations in Non-Lynch Hereditary Colorectal Cancer Through Exome Sequencing (2014) (0)
- SU79GENETIC PATHWAYS INVOLVED IN THE SEVERITY OF OBSESSIVE COMPULSIVE DISORDER: A FUNCTIONAL GENOMICS APPROACH (2019) (0)
- F18POSTZYGOTIC AND GERMINAL DE NOVO MUTATIONS IN ASD: EXPLORING THEIR DIFFERENT BIOLOGICAL IMPLICATIONS (2019) (0)
- Identification of genes carrying rare variants of moderate to large effect in schizophrenia: A replication study (2017) (0)
- Population data of 5 next generation STRs in Southern Italy (2009) (0)
- Use of a comprehensive panel of biomarkers to predict response to a fluorouracil-oxaliplatin (mFOLFOX6) regimen in patients with metastatic colorectal cancer. (2010) (0)
- 1040 POSTER Explore the Role That DMET Genotyplng Platform May Play in Search of Genetic Polymorphism Associated With Severe Toxicity (2011) (0)
- Corrigendum to "PIMA: A population informative multiplex for the Americas" [Forensic Sci. Int.: Genet. 44 (2020) 102200]. (2020) (0)
- Problems and future challenges of forensic genetics in the XXI century (2010) (0)
- The Use of Hybrid Isoelectric Focusing for the Detection of Polymorphic Proteins and Enzymes in Bloodstains Analysis (1990) (0)
- Meta‐GWAS of amyloid burden endophenotype combining PET and CSF results (2021) (0)
- Microgeographic substructure of NW Iberian Y chromosome STR haplotypes (2004) (0)
- Chapter 20A Forensic genetics: From classical serological genetic markers to DNA polymorphisms analyzed by microarray technology (2000) (0)
- Forensic Science International: Genetics Reviewer Hall of Fame 2020. (2021) (0)
- Identification of a minimal biomarker profile in head-and-neck squamous cell carcinoma tumors (2021) (0)
- THE KEYS TO GOOD FORENSIC GENETICS COMMUNICATION (2019) (0)
- Edinburgh Research Explorer COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer role (2009) (0)
- Forensic Science International: Genetics reviewer Hall of Fame 2018. (2019) (0)
- Publication of population data of human polymorphisms. (2000) (0)
- GGATG GTGAC CACCT CGACC ACGCT GGCCT GGGGC CTCCT GCTCA TGATC CTACA TCCGG ATGTG CAGCG TGAGC CCATC TGGGA AACAG TGCAG GGGCC GAGGG AGGAA GGGTA CAGGC GGGGG CCCAT GAACT TTGCT GGGAC ACCCG (2011) (0)
- COGENT cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer. (2009) (0)
- Same Mutation in Two Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) Coming from Different Municipalities in the Department of Cauca, Southwestern Colombia (2016) (0)
- Progress in forensic genetics 9 : proceedings from the 19th International ISFG Congress held in Münster, Germany between 28 August and 1 September 2001 (2002) (0)
- Abstract 2781: Genetic susceptibility to breast cancer in a Spanish population (2015) (0)
- Chapter 29 Mitochondrial DNA: future challenges in forensic genetics (2007) (0)
- Announcement of population data Y-chromosome haplotype analysis in Antioquia (Colombia) (2005) (0)
- Congenital hyperinsulinism in two siblings due to the same ABCC8 mutation: the clinical importance of an early diagnosis and treatment (2017) (0)
- Genetic Contribution to Proliferative Vitreoretinopathy Development (2008) (0)
- Identification of Mirnas and Their Gene Targets Differentially Expressed in Microsatellite Stable and Unstable Colorectal Cancers Through an Integrated Analysis (2011) (0)
- Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients (2015) (0)
- Obesity causes irreversible mitochondria failure in visceral adipose tissue despite successful anti-obesogenic lifestyle-based interventions (2020) (0)
- Explorer COGENT ( COlorectal cancer GENeTics ) : an international consortium to study the role of polymorphic variation on the risk of colorectal cancer (2017) (0)
- Y-chromosome short tandem repeat polymorphisms: a comparison between humans and chimpanzees (2003) (0)
- Forensic science International: Genetics Reviewer Hall of Fame 2019. (2019) (0)
- Correction: Uniparental Markers of Contemporary Italian Population Reveals Details on Its Pre-Roman Heritage (2014) (0)
- The use of immobilized pH gradients for the detection of human polymorphisms in the forensic identification of bloodstains (1992) (0)
- OP-JNCI200057 329..337 (2021) (0)
- Methylation Marks to Inform Association between Early-Life Air Pollution Exposures and Child Body Mass Index: An Analysis Based on A Priori Selected Pathways (2018) (0)
- PI, C2, GC, ATIII, PLG Typing in Bloodstains by Hybrid Isoelectric Focusing (HIEF) (1992) (0)
- A compact population analysis test using 32 SNPs with highly diverse allele frequency distributions (2006) (0)
- Abstracts presented at the Breast Cancer Linkage Consortium (BCLC) and the International Collaborative Group on Familial Breast and Ovarian Cancer (ICG-FBOC) 14th General Meeting at the Centro Nacional de Investigaciones Oncológica (CNIO), Madrid, Spain, 2–4 June 2003 Abstracts/sessions (2004) (0)
- The use of hybrid isoelectric focusing for the detection of polymorphic proteins in blood stains. (1989) (0)
- Polymorphism of erythrocyte acid phosphatase and adenosindesaminase in Galicia (N.W. Spain) by AGIF and PAGIF (2004) (0)
- M1875 Molecular Analysis of SPINK1, PRSS1 and CFTR Genes in Patients With Chronic Pancreatitis: Influence on Severity of the Disease at Diagnosis (2010) (0)
- On the suppression of FSI genetics from the 2019 journal citations report. (2020) (0)
- Allelic Frequency in the Population of Spain Using Three Hypervariable Loci (1994) (0)
- Phosphoglucomutase subtypes in human bloodstains. (1982) (0)
- Announcement of Population Data Autosomal microsatellite data from Northwestern Colombia (2006) (0)
- Neuroplasticity in Williams Syndrome – Intervention on Attention Problems (2009) (0)
- The effects of cosmetic treatment on the IEF pattern of human hair keratins. (1990) (0)
- Contents, Vol. 38, 1988 (1988) (0)
- T2029 Whole-Genome Association Scan (Wgas) for Colorectal Cancer: Replicated SNPs in Samples from the Spanish Epicolon Project (2008) (0)
- Determination of Orosomucoid (ORM) Phenotypes by Hybrid Isoelectric Focusing (1988) (0)
- Genetic polymorphism of GPT and GLO-I in Galicia (northwest Spain): a comparative study. (1987) (0)
- P.800 Further evidence of association between genetic variation in the glucocorticoid and mineralocorticoid receptor genes and cognition in major depressive disorder (2019) (0)
- The use of hybrid isoelectric focusing (HIEF) for the detection of polymorphic proteins and enzymes in bloodstains. (1989) (0)
- Radiotoxicity in prostate cancer: The first radiogenomic Spanish GWAS (2013) (0)
- Molecular analysis of in vitro damaged DNA samples (2006) (0)
- P5857Study of pharmacodynamic and pharmacokinetic-mediated genetic susceptibility to drug-induced arrhythmia and sudden cardiac death (2017) (0)
- Genetic ancestry in Afro-descendants from the Andes and Pacific Coast regions of Ecuador (2022) (0)
- Forensic Science Practice in Spain (2014) (0)
- A genome-wide association study of colorectal cancer in Mexican mestizos suggest novel common tumor-risk variants (2020) (0)
- The use of the PhastSystem for the detection of polymorphic proteins and enzymes in bloodstains. (1989) (0)
- Forensic Science International: Genetics reviewer Hall of Fame 2018. (2019) (0)
- DEOXYRIBONUCLEIC ACID | Significance (2000) (0)
- Determination of phosphoglucomutase (PGM1), acid phosphatase (ACP), and esterase D (ESD) in human bloodstains by hybrid isoelectric focusing (HIEF) (2004) (0)
- P5862Catecholaminergic polymorphic ventricular tachycardia and sudden cardiac death in the context of a novel deletion in the CASQ2 gene affecting the last three exons (2017) (0)
- Optimisation of Y-STR multiplexing combining established and newly described loci (2003) (0)
- Corrigendum to `Exploring Genetic Variants in Obsessive Compulsive Disorder Severity: A GWAS Approach.' Journal of Affective Disorders 267 (2020) 23-32. (2020) (0)
- New genetic associations in thiopurine-related bone (2013) (0)
- Obesity-related genetic determinants of stroke. (2021) (0)
- Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ (2017) (0)
- The Spanish legislation on organ transplantation. (1987) (0)
- Correlation between IEF and SDS-PAGE phenotypes of keratins. (1990) (0)
- [Genetics and family medicine]. (2017) (0)
- The etruscan timeline: a recent Anatolian: a recent connection. (2009) (0)
- Análisis comparativo de amplificación de marcadores genéticos STR’s y SNP’s en muestras óseas (2010) (0)
- Patrones de frecuencias en 100 marcadores informativos de ancestría entre dos etnias indígenas y dos poblaciones mestizas de Colombia (2019) (0)
- Presente y futuro de los avances en genómica y sus consecuencias en la práctica de la medicina de familia (2003) (0)
- Las ciencias forenses en el siglo XXI y la necesidad de cooperación global (2011) (0)
- Grabados sobre la creación (2010) (0)
- CORRELACIÓN GENOTIPO-FENOTIP EN EL CÁNCER COLORRECTAL EN RELACIÓN A VARIANTES GENÉTICAS DE SUSCEPTIBILIDAD (2009) (0)
- Sistema de adquisiciones de datos para bancos de ensayo de turbinas Pelton y Francis (1991) (0)
- Estudio de la relación de la ancestría genética con el riesgo al cáncer colorrectal en Colombia (2019) (0)
- Cáncer colorrectal. Variantes génicas en la vía de señalización BMP y ancestría en población mexicana (2022) (0)
- FRECUENCIA Y CARACTERÍSTICAS DEL CÁNCER COLORRECTAL HEREDITARIO NO POLIPOSIS (CCHNP) Y OTROS CÁNCERES COLORRECTALES NO SINDRÓMICOS EN ESPAÑA. DATOS PRELIMINARES DE UN ESTUDIO POBLACIONAL, PROSPECTIVO Y MULTICÉNTRICO (EPICOLON-II) (2009) (0)
- El proyecto HapMap (2007) (0)
- Las alteraciones de morfología de la sustancia blanca y gris en el trastorno obsesivo compulsivo (2017) (0)
- 49 - PREDICCIÓN DEL RIESGO FARMACOGENÉTICO DE PANCREATITIS AGUDA POR TIOPURINAS EN PACIENTES CON ENFERMEDAD INFLAMATORIA INTESTINAL: ESTUDIO CASO-CONTROL BASADO EN EL REGISTRO ENEIDA (2023) (0)
- Childhood exposure to non-persistent endocrine disrupting chemicals and multi-omic profiles: A panel study. (2023) (0)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
- Multilocus Genetic Profile for Glutamatergic Pathway and Frontostriatal Connectivity in Obsessive-compulsive Disorder (2015) (0)
- Exploring the biological role of postzygotic and germinal de novo mutations in ASD (2021) (0)
- Correction: New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 (2010) (0)
- Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants (2017) (0)
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (0)
- The genomics of visuospatial neurocognition in obsessive-compulsive disorder: A preliminary GWAS. (2023) (0)
- Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (2023) (0)
- Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (2023) (0)
- Transcriptomic and Proteomic Profiles for Elucidating Cisplatin Resistance in Head-and-Neck Squamous Cell Carcinoma (2022) (0)
- Germline variation at 8q24 and prostate cancer risk in men of European ancestry (2018) (0)
- Colorectal cancer. Genetic variants in BMP signaling pathway and ancestry in the Mexican population. (2023) (0)
- The role of DNA methylation of BDNF gene on clinical severity and cognitive performance in obsessive-compulsive disorder (2019) (0)
- A genome-wide association study of colorectal cancer in Mexican mestizos (2020) (0)
- Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency? (2023) (0)
- P905 Predictive pharmacogenetic risk of pancreatitis in Inflammatory Bowel Disease patients treated with thiopurines: a case-control study from the ENEIDA registry (2023) (0)
- A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer (2013) (0)
- Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing (2022) (0)
- Identification of Sodium Transients Through NaV1.5 Channels as Regulators of Differentiation in Immortalized Dorsal Root Ganglia Neurons (2022) (0)
- The non-coding genome in Autism Spectrum Disorders. (2023) (0)
- Genome-wide association study of germline variants and breast cancer-speci fi c mortality (2019) (0)
- NAD pool as an antitumor target against cancer stem cells in head and neck cancer (2023) (0)
- Colorectal Cancer Risk and Ancestry in Colombian admixed Populations (2023) (0)
- Genome-wide association study of germline variants and breast cancer-specific mortality (2019) (0)
- S0033291720003748jra 1910..1922 (2022) (0)
- RSPO4 is a potential risk gene of stages III-IV, grade C periodontitis through effects on innate immune response and oral barrier integrity. (2022) (0)
- Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula (2019) (0)
- How Executive Functions Correlate with Intelligence in Children and Adolescents in Autism Spectrum Disorders (2022) (0)
- Prenatal environmental exposures associated with sex differences in childhood obesity and neurodevelopment (2023) (0)
- Edinburgh Research Explorer The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer (2018) (0)
- BMPR2 as a novel predisposition gene for hereditary colorectal polyposis. (2023) (0)
- A crowdsourcing database for the copy-number variation of the Spanish population (2023) (0)
- Characterization of CYP1A2, CYP2C19, CYP3A4 and CYP3A5 polymorphisms in South Brazilians (2014) (0)
- Touch Processing and Social Behavior in ASD (2017) (0)
- Autism Sequencing Consortium (ASC) iPSYCH-BROAD Consortium Broad Institute Center for Common Disease Genomics (Broad-CCDG) (2021) (0)
- Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men (2023) (0)
- A Machine Learning Approach in Autism Spectrum Disorders: From Sensory Processing to Behavior Problems (2022) (0)
- Gene-based analysis of ADHD using PASCAL: a biological insight into the novel associated genes (2019) (0)
- DNA polymorphisms associated with lactase persistence, self-perceived symptoms of lactose intolerance, milk and dairy consumption, and ancestry, in the Uruguayan population. (2023) (0)
- Title: Obesity-related genetic determinants of stroke Running title: Obesity-related Genetic Determinants of Stroke (2021) (0)
- affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling (2015) (0)
- Brain activation of the defensive and appetitive survival systems in obsessive compulsive disorder (2014) (0)
- Longitudinal analysis on parasite diversity in honeybee colonies: new taxa, high frequency of mixed infections and seasonal patterns of variation (2020) (0)
- Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (2019) (0)
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What Schools Are Affiliated With Ángel Carracedo?
Ángel Carracedo is affiliated with the following schools:
