Published in Hum Mutat on November 01, 2006
Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Res (2009) 2.76
Genomic patterns of homozygosity in worldwide human populations. Am J Hum Genet (2012) 2.30
Genomic runs of homozygosity record population history and consanguinity. PLoS One (2010) 2.22
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Quantification of inbreeding due to distant ancestors and its detection using dense single nucleotide polymorphism data. Genetics (2011) 1.85
Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms. BMC Genomics (2011) 1.64
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. Neurogenetics (2009) 1.50
Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genet (2009) 1.46
Emerging paradigms in cancer genetics: some important findings from high-density single nucleotide polymorphism array studies. Cancer Res (2009) 1.34
Regions of homozygosity and their impact on complex diseases and traits. Hum Genet (2010) 1.30
The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiol Aging (2010) 1.25
The signatures of autozygosity among patients with colorectal cancer. Cancer Res (2008) 1.10
Genome-wide autozygosity mapping in human populations. Genet Epidemiol (2009) 1.07
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. Genome Res (2013) 1.06
A genome-wide homozygosity association study identifies runs of homozygosity associated with rheumatoid arthritis in the human major histocompatibility complex. PLoS One (2012) 1.03
Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. Eur J Hum Genet (2010) 1.01
Combining identity by descent and association in genetic case-control studies. BMC Genet (2008) 0.99
Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity. JAMA Neurol (2013) 0.99
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med (2012) 0.90
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families. Eur J Hum Genet (2011) 0.87
Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population data. Hum Mutat (2011) 0.86
Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy. Mol Cytogenet (2014) 0.85
No evidence that runs of homozygosity are associated with schizophrenia in an Irish genome-wide association dataset. Schizophr Res (2014) 0.83
A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan. BMC Genet (2008) 0.83
Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. BMC Genomics (2015) 0.82
An integrated Bayesian analysis of LOH and copy number data. BMC Bioinformatics (2010) 0.82
Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy. Mol Cytogenet (2015) 0.81
cgaTOH: extended approach for identifying tracts of homozygosity. PLoS One (2013) 0.80
Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees. Eur J Hum Genet (2012) 0.79
High MET gene copy number predicted poor prognosis in primary intestinal diffuse large B-cell lymphoma. Diagn Pathol (2013) 0.79
Has human evolution stopped? Rambam Maimonides Med J (2010) 0.78
Genome-wide inbreeding estimation within Lebanese communities using SNP arrays. Eur J Hum Genet (2014) 0.77
Evidence of Inbreeding in Hodgkin Lymphoma. PLoS One (2016) 0.77
Genome-wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations. J Bone Miner Res (2015) 0.77
hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets. Genome Biol (2011) 0.77
Human population structure, genome autozygosity and human health. Genome Med (2009) 0.77
Characterizing runs of homozygosity and their impact on risk for psychosis in a population isolate. Am J Med Genet B Neuropsychiatr Genet (2014) 0.77
Genome-wide homozygosity signature and risk of Hodgkin lymphoma. Sci Rep (2015) 0.76
Analysis of Shared Haplotypes amongst Palauans Maps Loci for Psychotic Disorders to 4q28 and 5q23-q31. Mol Neuropsychiatry (2016) 0.75
Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages. Am J Hum Genet (2015) 0.75
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays. BMC Genomics (2016) 0.75
Runs of homozygosity and inbreeding in thyroid cancer. BMC Cancer (2016) 0.75
Inbreeding and homozygosity in breast cancer survival. Sci Rep (2015) 0.75
Homozygosity disequilibrium and its gene regulation. BMC Proc (2016) 0.75
Random inbreeding, isonymy, and population isolates in Argentina. J Community Genet (2014) 0.75
Mapping human genetic diversity in Asia. Science (2009) 7.40
Variant GADL1 and response to lithium therapy in bipolar I disorder. N Engl J Med (2013) 5.71
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res (2006) 5.60
Medical genetics: a marker for Stevens-Johnson syndrome. Nature (2004) 5.43
ERK promotes tumorigenesis by inhibiting FOXO3a via MDM2-mediated degradation. Nat Cell Biol (2008) 5.19
Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan. N Engl J Med (2011) 5.13
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet (2011) 4.50
IKK beta suppression of TSC1 links inflammation and tumor angiogenesis via the mTOR pathway. Cell (2007) 4.48
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. Nat Genet (2011) 4.04
Erk associates with and primes GSK-3beta for its inactivation resulting in upregulation of beta-catenin. Mol Cell (2005) 3.89
HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. Proc Natl Acad Sci U S A (2005) 3.82
A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese. PLoS Genet (2010) 3.25
A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity. Hum Mol Genet (2005) 2.97
Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups. Blood (2010) 2.93
Meta-analysis identifies common variants associated with body mass index in east Asians. Nat Genet (2012) 2.70
Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis. Nat Med (2008) 2.66
Ethylene glycol induces calcium oxalate crystal deposition in Malpighian tubules: a Drosophila model for nephrolithiasis/urolithiasis. Kidney Int (2011) 2.28
Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics (2006) 2.25
PSORS2 is due to mutations in CARD14. Am J Hum Genet (2012) 2.10
Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med (2005) 2.08
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease. J Clin Invest (2004) 2.08
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med (2011) 2.08
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet (2012) 2.05
The crosstalk of mTOR/S6K1 and Hedgehog pathways. Cancer Cell (2012) 2.02
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. Nat Genet (2011) 1.97
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med (2002) 1.96
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics (2008) 1.95
PrimerZ: streamlined primer design for promoters, exons and human SNPs. Nucleic Acids Res (2007) 1.91
Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. Nat Genet (2012) 1.90
iSMART: an integrated cloud computing web server for traditional Chinese medicine for online virtual screening, de novo evolution and drug design. J Biomol Struct Dyn (2011) 1.72
Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A (2009) 1.67
Human leukocyte antigens and drug hypersensitivity. Curr Opin Allergy Clin Immunol (2007) 1.64
Down-regulation of myeloid cell leukemia-1 through inhibiting Erk/Pin 1 pathway by sorafenib facilitates chemosensitization in breast cancer. Cancer Res (2008) 1.56
Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics (2009) 1.56
Subunit 6 of the COP9 signalosome promotes tumorigenesis in mice through stabilization of MDM2 and is upregulated in human cancers. J Clin Invest (2011) 1.54
Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations. Hum Hered (2004) 1.52
Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. Pharmacogenomics (2010) 1.51
Direct interaction between HLA-B and carbamazepine activates T cells in patients with Stevens-Johnson syndrome. J Allergy Clin Immunol (2012) 1.51
Mesenchymal stem cell insights: prospects in cardiovascular therapy. Cell Transplant (2014) 1.50
Plasma concentration of SCUBE1, a novel platelet protein, is elevated in patients with acute coronary syndrome and ischemic stroke. J Am Coll Cardiol (2008) 1.47
Shared and restricted T-cell receptor use is crucial for carbamazepine-induced Stevens-Johnson syndrome. J Allergy Clin Immunol (2011) 1.47
Tumor necrosis factor-α gene polymorphisms in age-related macular degeneration. Retina (2010) 1.45
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. Epilepsia (2003) 1.44
Association between angiotensin I-converting enzyme gene insertion/deletion polymorphism and mitral valve prolapse syndrome. Am Heart J (2003) 1.43
Constipation in Taiwan elementary school students: a nationwide survey. J Chin Med Assoc (2011) 1.42
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation. Fertil Steril (2007) 1.42
Functional genomic analysis identified epidermal growth factor receptor activation as the most common genetic event in oral squamous cell carcinoma. Cancer Res (2009) 1.36
Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25. Genet Epidemiol (2012) 1.34