Published in PLoS One on April 12, 2012
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. PLoS One (2014) 0.77
Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene. Mol Biol Rep (2012) 0.75
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis. Mol Genet Genomic Med (2016) 0.75
Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (2004) 125.23
BEAST: Bayesian evolutionary analysis by sampling trees. BMC Evol Biol (2007) 74.13
A new statistical method for haplotype reconstruction from population data. Am J Hum Genet (2001) 59.30
A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet (2003) 26.59
Bayesian coalescent inference of past population dynamics from molecular sequences. Mol Biol Evol (2005) 18.57
Estimate of the mutation rate per nucleotide in humans. Genetics (2000) 15.08
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet (1995) 5.11
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet (2004) 3.51
New estimates of intergenerational time intervals for the calculation of age and origins of mutations. Am J Hum Genet (2000) 3.47
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol (2010) 2.87
DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics (2002) 2.12
Skyline-plot methods for estimating demographic history from nucleotide sequences. Mol Ecol Resour (2011) 1.90
Autosomal recessive congenital ichthyosis. J Invest Dermatol (2009) 1.80
mtDNA analysis of the Galician population: a genetic edge of European variation. Eur J Hum Genet (1998) 1.75
New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0. PLoS One (2009) 1.47
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat (2009) 1.39
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat (2001) 1.36
The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim. Am J Hum Genet (1997) 1.32
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet (1999) 0.95
The genetics of ichthyosis: a primer for epidemiologists. J Invest Dermatol (1994) 0.94
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect. Clin Endocrinol (Oxf) (2006) 0.93
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. Br J Dermatol (2011) 0.92
Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes. PLoS One (2012) 0.92
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. Hum Genet (2000) 0.85
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. Eur J Hum Genet (2001) 0.83
Correcting for purifying selection: an improved human mitochondrial molecular clock. Am J Hum Genet (2009) 5.37
Reconstructing Native American population history. Nature (2012) 3.49
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet (2006) 2.89
Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups. Curr Biol (2009) 2.78
A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis (2006) 2.59
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. Nat Genet (2010) 2.32
The fingerprint of phantom mutations in mitochondrial DNA data. Am J Hum Genet (2002) 2.07
Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data set. PLoS Genet (2009) 2.07
A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med (2005) 1.96
Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers. Proc Natl Acad Sci U S A (2008) 1.96
Problems in FBI mtDNA database. Science (2004) 1.88
The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies. PLoS One (2008) 1.87
Fibroblast growth factor homologous factors control neuronal excitability through modulation of voltage-gated sodium channels. Neuron (2007) 1.84
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 western Bantu migrations. Hum Genet (2005) 1.62
Association of ESR1 gene tagging SNPs with breast cancer risk. Hum Mol Genet (2009) 1.58
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
The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia. Genome Res (2010) 1.50
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
Exocrine pancreatic cancer: symptoms at presentation and their relation to tumour site and stage. Clin Transl Oncol (2005) 1.44
Are positive serum-IgA-tissue-transglutaminase antibodies enough to diagnose coeliac disease without a small bowel biopsy? Post-test probability of coeliac disease. J Crohns Colitis (2012) 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
Reinstatement of dapsone following hypersensitivity. Acta Derm Venereol (2003) 1.43
Nr5a2 heterozygosity sensitises to, and cooperates with, inflammation in KRas(G12V)-driven pancreatic tumourigenesis. Gut (2013) 1.43
Lack of clinical usefulness of Das-1 monoclonal antibody and mucin expression as risk markers of gastric carcinoma in patients with gastric intestinal metaplasia. Am J Clin Pathol (2009) 1.42
Occupational dermatitis in a milk industry worker due to Kathon CG. Dermatitis (2004) 1.39
[Sweet's syndrome]. Med Clin (Barc) (2009) 1.39
mtDNA data mining in GenBank needs surveying. Am J Hum Genet (2009) 1.36
Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians. Am J Hum Genet (2009) 1.32
Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches. Hum Mutat (2009) 1.32
Evaluating the ability of tree-based methods and logistic regression for the detection of SNP-SNP interaction. Ann Hum Genet (2009) 1.31
ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping. Cancer Res (2006) 1.29
Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba. BMC Evol Biol (2008) 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
Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies. Biochem Biophys Res Commun (2005) 1.23
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet (2006) 1.22
Current next generation sequencing technology may not meet forensic standards. Forensic Sci Int Genet (2011) 1.22
Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola. Hum Genet (2004) 1.19
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families. BMC Med Genet (2007) 1.19
Drug consumption and the risk of microscopic colitis. Am J Gastroenterol (2006) 1.19
What is a 'novel' mtDNA mutation--and does 'novelty' really matter? J Hum Genet (2006) 1.19
Increased activity and expression of matrix metalloproteinase-9 in a rat model of distal colitis. Am J Physiol Gastrointest Liver Physiol (2002) 1.18
Is mitochondrial DNA variation associated with sporadic breast cancer risk? Cancer Res (2008) 1.18
Collagenous and lymphocytic colitis. evaluation of clinical and histological features, response to treatment, and long-term follow-up. Am J Gastroenterol (2003) 1.17
Attenuation of dextran sodium sulphate induced colitis in matrix metalloproteinase-9 deficient mice. World J Gastroenterol (2006) 1.16
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet (2005) 1.13
High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients. Biochem Biophys Res Commun (2006) 1.12
Contamination and sample mix-up can best explain some patterns of mtDNA instabilities in buccal cells and oral squamous cell carcinoma. BMC Cancer (2009) 1.11
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Breast Cancer Res Treat (2011) 1.11
Reconstructing ancient mitochondrial DNA links between Africa and Europe. Genome Res (2012) 1.10
Radiogenomics: radiobiology enters the era of big data and team science. Int J Radiat Oncol Biol Phys (2014) 1.10
ENGINES: exploring single nucleotide variation in entire human genomes. BMC Bioinformatics (2011) 1.09
Rapid coastal spread of First Americans: novel insights from South America's Southern Cone mitochondrial genomes. Genome Res (2012) 1.08
Dissection of mitochondrial superhaplogroup H using coding region SNPs. Electrophoresis (2006) 1.08
Intestinal spirochetosis and chronic watery diarrhea: clinical and histological response to treatment and long-term follow up. J Gastroenterol Hepatol (2006) 1.08
mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations. Oncogene (2004) 1.07
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet (2003) 1.07
Evolution of the incidence of collagenous colitis and lymphocytic colitis in Terrassa, Spain: a population-based study. Inflamm Bowel Dis (2010) 1.06
Haplogrouping mitochondrial DNA sequences in Legal Medicine/Forensic Genetics. Int J Legal Med (2012) 1.06
Distilling artificial recombinants from large sets of complete mtDNA genomes. PLoS One (2008) 1.04
Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases. J Med Genet (2012) 1.04
Systematic evaluation of the causes of chronic watery diarrhea with functional characteristics. Am J Gastroenterol (2006) 1.04
Matrix metalloproteinase-9 modulates intestinal injury in rats with transmural colitis. J Leukoc Biol (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
Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem (2006) 1.03
Predisposing HLA-DQ2 and HLA-DQ8 haplotypes of coeliac disease and associated enteropathy in microscopic colitis. Eur J Gastroenterol Hepatol (2005) 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
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
Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel. Eur J Hum Genet (2010) 1.01
Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease. PLoS One (2009) 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
The role of P-selectin in experimental colitis as determined by antibody immunoblockade and genetically deficient mice. J Leukoc Biol (2002) 1.00
'Distorted' mitochondrial DNA sequences in schizophrenic patients. Eur J Hum Genet (2007) 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
Median network analysis of defectively sequenced entire mitochondrial genomes from early and contemporary disease studies. J Hum Genet (2009) 0.98
The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor. Int J Cardiol (2007) 0.97
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat (2009) 0.97
Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients. PLoS One (2011) 0.96
Paucicellular lymphocytic colitis: is it a minor form of lymphocytic colitis? A clinical pathological and immunological study. Am J Gastroenterol (2009) 0.95
Clinicopathological and immnuohistochemical findings in a series of folliculosebaceous cystic hamartoma. J Cutan Pathol (2008) 0.94
Efficacy of anti-TNF therapies in refractory severe microscopic colitis. J Crohns Colitis (2011) 0.94
Wear is reduced in THA performed with highly cross-linked polyethylene. Clin Orthop Relat Res (2008) 0.94
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? BMC Med Genet (2009) 0.94
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? Transfus Med Hemother (2012) 0.93
Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder. BMC Med Genet (2011) 0.93
[Generalized eruptive histiocytoma]. Actas Dermosifiliogr (2006) 0.93