Published in Int J Legal Med on July 12, 2003
Understanding the Y chromosome variation in Korea--relevance of combined haplogroup and haplotype analyses. Int J Legal Med (2012) 0.82
Towards improvements in the estimation of the coalescent: implications for the most effective use of Y chromosome short tandem repeat mutation rates. PLoS One (2012) 0.77
Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet (1997) 3.78
Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet (2000) 3.59
Y chromosomes traveling south: the cohen modal haplotype and the origins of the Lemba--the "Black Jews of Southern Africa". Am J Hum Genet (2000) 2.11
An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet (2001) 1.70
Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int (2001) 1.67
Messages through bottlenecks: on the combined use of slow and fast evolving polymorphic markers on the human Y chromosome. Am J Hum Genet (2000) 1.65
A short tandem repeat-based phylogeny for the human Y chromosome. Am J Hum Genet (2000) 1.58
Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group. Hum Genet (2001) 1.31
Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Sci Int (2001) 1.22
Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques. Hum Mol Genet (2001) 1.09
Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392. Eur J Hum Genet (2001) 1.05
Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan. Int J Legal Med (2003) 0.87
Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10. Int J Legal Med (2002) 0.78
Molecular characteristics of four human Y-specific microsatellites (DYS434, DYD437, DYS438, DYS439) for poulation and forensic studies. Ann Hum Genet (2001) 0.75
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet (2006) 15.14
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
Common variants conferring risk of schizophrenia. Nature (2009) 10.37
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet (2008) 5.05
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet (2005) 4.23
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet (2008) 3.99
On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Am J Hum Genet (2008) 3.95
cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebacks and humans. Cell (2007) 3.72
The making of the African mtDNA landscape. Am J Hum Genet (2002) 3.52
Reconstructing Native American population history. Nature (2012) 3.49
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
A comprehensive evaluation of SNP genotype imputation. Hum Genet (2008) 3.18
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93
Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet (2005) 2.82
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet (2004) 2.63
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet (2013) 2.62
A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis (2006) 2.59
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat (2005) 2.55
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat (2003) 2.55
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science (2008) 2.51
Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet (2011) 2.47
Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. Nat Genet (2010) 2.45
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
SNP-based analysis of genetic substructure in the German population. Hum Hered (2006) 2.21
Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet (2011) 2.21
Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability. Int J Legal Med (2009) 2.20
Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study. Lancet (2002) 2.12
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet (2009) 2.03
MHC class I alleles influence set-point viral load and survival time in simian immunodeficiency virus-infected rhesus monkeys. J Immunol (2002) 1.97
A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med (2005) 1.96
A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem Biophys Res Commun (2005) 1.93
The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model. Hum Mol Genet (2006) 1.90
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals. Mech Ageing Dev (2011) 1.88
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Nat Genet (2013) 1.85
High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Res (2005) 1.85
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83
Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel. Hum Mutat (2010) 1.74
SNPs in forensic genetics: a review on SNP typing methodologies. Forensic Sci Int (2005) 1.74
Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas. PLoS Genet (2012) 1.74
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat (2003) 1.73
Patterns of linkage disequilibrium in the MHC region on human chromosome 6p. Hum Genet (2004) 1.73
Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting. Genome Res (2012) 1.73
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet (2010) 1.72
No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans. Proc Natl Acad Sci U S A (2005) 1.66
Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians. Hepatology (2010) 1.65
The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula. Am J Hum Genet (2008) 1.64
A longitudinal analysis of reproductive skew in male rhesus macaques. Proc Biol Sci (2004) 1.64
The genetic legacy of western Bantu migrations. Hum Genet (2005) 1.62
Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur J Hum Genet (2003) 1.60
Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases. Forensic Sci Int (2002) 1.59
Testing for kinship in a subdivided population. Forensic Sci Int (2003) 1.58
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet (2011) 1.57
Systematic association mapping identifies NELL1 as a novel IBD disease gene. PLoS One (2007) 1.57
Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology (2013) 1.55
Genetic signatures of a Mediterranean influence in Iberian Peninsula sheep husbandry. Mol Biol Evol (2006) 1.55
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord (2011) 1.55
DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery. Cell Metab (2013) 1.55
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet (2005) 1.54
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. Nat Genet (2008) 1.54
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. Hum Mutat (2003) 1.54
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus. Hepatology (2013) 1.53
The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269. Proc Biol Sci (2011) 1.52
The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast Cancer Res Treat (2008) 1.51
SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access. BMC Bioinformatics (2008) 1.51
Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord (2002) 1.51
On the edge of Bantu expansions: mtDNA, Y chromosome and lactase persistence genetic variation in southwestern Angola. BMC Evol Biol (2009) 1.51
TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients. Radiother Oncol (2012) 1.49
New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0. PLoS One (2009) 1.47
Charting the ancestry of African Americans. Am J Hum Genet (2005) 1.47
ISFG: Recommendations on biostatistics in paternity testing. Forensic Sci Int Genet (2007) 1.46
The human early-life exposome (HELIX): project rationale and design. Environ Health Perspect (2014) 1.44
mtDNA phylogeny and evolution of laboratory mouse strains. Genome Res (2007) 1.42
Molecular and genotypic characterization of human thyroid follicular cell carcinoma-derived cell lines. Thyroid (2007) 1.41
Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNA. Am J Phys Anthropol (2005) 1.40
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet (2008) 1.40
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Hum Mutat (2003) 1.39
A new multiplex for human identification using insertion/deletion polymorphisms. Electrophoresis (2009) 1.38
A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations. Int J Legal Med (2008) 1.38
Entropy-based SNP selection for genetic association studies. Hum Genet (2003) 1.36
Publication of population data for forensic purposes. Forensic Sci Int Genet (2010) 1.31
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat (2003) 1.30
Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans. Hum Mol Genet (2010) 1.28
Technology-specific error signatures in the 1000 Genomes Project data. Hum Genet (2011) 1.27
Highly polymorphic microsatellite for identification of Candida albicans strains. J Clin Microbiol (2003) 1.27