Published in BMC Med Genet on June 29, 2007
A SNaPshot assay for the rapid and simple detection of four common hotspot codon mutations in the PIK3CA gene. BMC Res Notes (2009) 1.29
Identification and genotyping of Mycobacterium tuberculosis complex species by use of a SNaPshot Minisequencing-based assay. J Clin Microbiol (2010) 1.04
Development of a multiplex primer extension assay for rapid detection of Salmonella isolates of diverse serotypes. J Clin Microbiol (2010) 0.94
Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use. J Mol Diagn (2010) 0.93
Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants. Biol Chem (2010) 0.86
Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer. Oncol Lett (2011) 0.84
Minisequencing mitochondrial DNA pathogenic mutations. BMC Med Genet (2008) 0.84
Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer. Afr Health Sci (2014) 0.82
Something Darwin didn't know about barnacles: spermcast mating in a common stalked species. Proc Biol Sci (2013) 0.82
Long QT syndrome mutation detection by SNaPshot technique. Int J Legal Med (2011) 0.81
Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes. BMC Res Notes (2013) 0.81
Rapid method for identification of six common species of mycobacteria based on multiplex SNP analysis. J Clin Microbiol (2009) 0.79
First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene. Oncol Lett (2016) 0.78
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. Eur J Hum Genet (2015) 0.77
Curative Effects of ZHENG-Based Fuzheng-Huayu Tablet on Hepatitis B Caused Cirrhosis Related to CYP1A2 Genetic Polymorphism. Evid Based Complement Alternat Med (2013) 0.76
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. BMC Med Genet (2016) 0.75
Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. Am J Cancer Res (2014) 0.75
Method: a single nucleotide polymorphism genotyping method for Wheat streak mosaic virus. Investig Genet (2012) 0.75
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet (1997) 3.68
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med (1996) 3.07
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet (1996) 2.93
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet (2000) 2.77
High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res (1996) 2.43
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet (1997) 2.01
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet (1998) 1.88
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
Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing. Forensic Sci Int (2004) 1.52
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat (2001) 1.36
High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat (2006) 1.34
Coding region mitochondrial DNA SNPs: targeting East Asian and Native American haplogroups. Forensic Sci Int Genet (2006) 1.19
Evidence of founder mutations in Finnish BRCA1 and BRCA2 families. Am J Hum Genet (1998) 1.13
BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet (2006) 0.98
Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. Ann Hum Genet (2002) 0.94
Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stain. Forensic Sci Int (2005) 0.83
Multiplex single-nucleotide primer extension analysis to simultaneously detect eleven BRCA1 mutations in breast cancer families. Clin Chem (2004) 0.82
Common variants conferring risk of schizophrenia. Nature (2009) 10.37
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
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
The making of the African mtDNA landscape. Am J Hum Genet (2002) 3.52
Reconstructing Native American population history. Nature (2012) 3.49
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
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
Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet (2011) 2.21
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
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Nat Genet (2013) 1.85
Fibroblast growth factor homologous factors control neuronal excitability through modulation of voltage-gated sodium channels. Neuron (2007) 1.84
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
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
The genetic legacy of western Bantu migrations. Hum Genet (2005) 1.62
Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases. Forensic Sci Int (2002) 1.59
Association of ESR1 gene tagging SNPs with breast cancer risk. Hum Mol Genet (2009) 1.58
Testing for kinship in a subdivided population. Forensic Sci Int (2003) 1.58
Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology (2013) 1.55
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord (2011) 1.55
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
SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access. BMC Bioinformatics (2008) 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
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res (2008) 1.43
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet (2008) 1.40
Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNA. Am J Phys Anthropol (2005) 1.40
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
Publication of population data for forensic purposes. Forensic Sci Int Genet (2010) 1.31
The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives. Forensic Sci Int (2004) 1.26
The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer (2004) 1.24
Establishment of a Radiogenomics Consortium. Int J Radiat Oncol Biol Phys (2010) 1.23
Association of PDCD1 with susceptibility to systemic lupus erythematosus: evidence of population-specific effects. Arthritis Rheum (2004) 1.22
Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola. Hum Genet (2004) 1.19
Introduction of an single nucleodite polymorphism-based "Major Y-chromosome haplogroup typing kit" suitable for predicting the geographical origin of male lineages. Electrophoresis (2005) 1.18
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet (2009) 1.18
Is mitochondrial DNA variation associated with sporadic breast cancer risk? Cancer Res (2008) 1.18
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. Am J Med Genet B Neuropsychiatr Genet (2009) 1.14
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Hum Mutat (2007) 1.14
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet (2005) 1.13
Genetic analysis of three US population groups using an X-chromosomal STR decaplex. Int J Legal Med (2007) 1.13
Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype. Gastroenterology (2010) 1.11
Forensic validation of the SNPforID 52-plex assay. Forensic Sci Int Genet (2007) 1.11
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Breast Cancer Res Treat (2011) 1.11
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations. Schizophr Bull (2014) 1.10
Reconstructing ancient mitochondrial DNA links between Africa and Europe. Genome Res (2012) 1.10
Dissection of mitochondrial superhaplogroup H using coding region SNPs. Electrophoresis (2006) 1.08
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet (2013) 1.08
mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations. Oncogene (2004) 1.07
Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Hum Mol Genet (2011) 1.07
Use of a comprehensive panel of biomarkers to predict response to a fluorouracil-oxaliplatin regimen in patients with metastatic colorectal cancer. Pharmacogenomics (2011) 1.06
Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases. J Med Genet (2012) 1.04
Analysis of 10 X-STRs in three African populations. Forensic Sci Int Genet (2007) 1.04
Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction. J Psychiatr Res (2007) 1.04
New guidelines for the publication of genetic population data. Forensic Sci Int Genet (2013) 1.03
Micro-phylogeographic and demographic history of Portuguese male lineages. Ann Hum Genet (2006) 1.03
Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem (2006) 1.03
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer. Breast Cancer Res Treat (2011) 1.03
An overview of STRUCTURE: applications, parameter settings, and supporting software. Front Genet (2013) 1.02
Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations. Eur J Hum Genet (2003) 1.02
Ancestry analysis in the 11-M Madrid bomb attack investigation. PLoS One (2009) 1.02
Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature. Forensic Sci Int (2002) 1.01
Radiogenomics: the search for genetic predictors of radiotherapy response. Future Oncol (2014) 1.01
The Etruscan timeline: a recent Anatolian connection. Eur J Hum Genet (2008) 1.01
Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease. PLoS One (2009) 1.01
Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma. Cancer Res (2007) 1.01
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clin Chem (2013) 1.01
Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East. BMC Evol Biol (2008) 1.00
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). Hum Mutat (2006) 1.00
Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. Clin Chim Acta (2013) 0.99
Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer. Radiother Oncol (2013) 0.99
High mitochondrial DNA stability in B-cell chronic lymphocytic leukemia. PLoS One (2009) 0.99