Published in Ann Hum Genet on December 19, 2006
CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches. Am J Med Genet B Neuropsychiatr Genet (2010) 2.31
Indexing disease progression at study entry with individuals at-risk for Huntington disease. Am J Med Genet B Neuropsychiatr Genet (2011) 2.05
CAG repeat lengths > or =335 attenuate the phenotype in the R6/2 Huntington's disease transgenic mouse. Neurobiol Dis (2008) 1.19
Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry (2010) 1.16
Structure and topology of the huntingtin 1-17 membrane anchor by a combined solution and solid-state NMR approach. Biophys J (2013) 1.01
A critical window of CAG repeat-length correlates with phenotype severity in the R6/2 mouse model of Huntington's disease. J Neurophysiol (2011) 1.01
Genetics and neuropathology of Huntington's disease. Int Rev Neurobiol (2011) 0.99
Triplet repeat length bias and variation in the human transcriptome. Proc Natl Acad Sci U S A (2009) 0.95
Discovering putative prion sequences in complete proteomes using probabilistic representations of Q/N-rich domains. BMC Genomics (2013) 0.95
Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington's Disease. PLoS Genet (2015) 0.92
Complexity and heterogeneity: what drives the ever-changing brain in Huntington's disease? Ann N Y Acad Sci (2008) 0.91
A brief history of triplet repeat diseases. Methods Mol Biol (2013) 0.88
Unusual structures are present in DNA fragments containing super-long Huntingtin CAG repeats. PLoS One (2011) 0.87
Biophysical underpinnings of the repeat length dependence of polyglutamine amyloid formation. J Biol Chem (2014) 0.87
Disruption of response inhibition circuits in prodromal Huntington disease. Cortex (2014) 0.84
Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases. Mol Neurodegener (2009) 0.83
Clinical and genetic features of Huntington disease in Sri Lanka. BMC Neurol (2013) 0.79
Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease. J R Soc Interface (2013) 0.79
Lessons learned from the transgenic Huntington's disease rats. Neural Plast (2012) 0.78
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy. J Neurol (2012) 0.78
Factors influencing the clinical expression of intermediate CAG repeat length mutations of the Huntington's disease gene. J Neurol (2014) 0.77
Abnormal Weight and Body Mass Index in Children with Juvenile Huntington's Disease. J Huntingtons Dis (2015) 0.76
Novel BAC Mouse Model of Huntington's Disease with 225 CAG Repeats Exhibits an Early Widespread and Stable Degenerative Phenotype. J Huntingtons Dis (2015) 0.76
Restriction endonuclease TseI cleaves A:A and T:T mismatches in CAG and CTG repeats. Nucleic Acids Res (2013) 0.75
Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene. PLoS One (2015) 0.75
Neonatal Iron Supplementation Induces Striatal Atrophy in Female YAC128 Huntington's Disease Mice. J Huntingtons Dis (2016) 0.75
Evolving Notch polyQ tracts reveal possible solenoid interference elements. PLoS One (2017) 0.75
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Replicating genotype-phenotype associations. Nature (2007) 16.11
The effects of human population structure on large genetic association studies. Nat Genet (2004) 14.88
Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet (2005) 14.88
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Evaluating coverage of genome-wide association studies. Nat Genet (2006) 11.40
The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 9.54
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet (2007) 8.50
Thousands of chemical starting points for antimalarial lead identification. Nature (2010) 8.28
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
A first-generation linkage disequilibrium map of human chromosome 22. Nature (2002) 7.03
Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell (2011) 6.56
Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell (2004) 5.67
Two-stage two-locus models in genome-wide association. PLoS Genet (2006) 5.60
Aneuploidy affects proliferation and spontaneous immortalization in mammalian cells. Science (2008) 5.36
Physical activity and weight gain prevention. JAMA (2010) 5.27
The complex interplay among factors that influence allelic association. Nat Rev Genet (2004) 5.26
Powerful regression-based quantitative-trait linkage analysis of general pedigrees. Am J Hum Genet (2002) 5.20
Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet (2008) 5.04
Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04
Diabetes prevalence and therapeutic target achievement in the United States, 1999 to 2006. Am J Med (2009) 4.53
Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease. Cell (2013) 4.45
Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes. Am J Hum Genet (2004) 4.44
Retracted Genetic signatures of exceptional longevity in humans. Science (2010) 4.33
Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms. Am J Hum Genet (2008) 4.28
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Regional and cellular gene expression changes in human Huntington's disease brain. Hum Mol Genet (2006) 3.91
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet (2009) 3.78
Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A (2004) 3.73
Data quality control in genetic case-control association studies. Nat Protoc (2010) 3.68
Measures of human population structure show heterogeneity among genomic regions. Genome Res (2005) 3.68
Investigation of the fine structure of European populations with applications to disease association studies. Eur J Hum Genet (2008) 3.65
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins. Cell (2012) 3.20
Genetic signatures of exceptional longevity in humans. PLoS One (2012) 3.20
CalDAG-GEFI integrates signaling for platelet aggregation and thrombus formation. Nat Med (2004) 3.03
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
SNP and haplotype mapping for genetic analysis in the rat. Nat Genet (2008) 2.96
Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature (2004) 2.90
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet (2005) 2.85
Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet Epidemiol (2011) 2.78
The impact of SNP density on fine-scale patterns of linkage disequilibrium. Hum Mol Genet (2004) 2.78
Digital genotyping and haplotyping with polymerase colonies. Proc Natl Acad Sci U S A (2003) 2.77
Genetic susceptibility to cancer: the role of polymorphisms in candidate genes. JAMA (2008) 2.73
Lifestyle risk factors and new-onset diabetes mellitus in older adults: the cardiovascular health study. Arch Intern Med (2009) 2.72
Exceptional longevity in men: modifiable factors associated with survival and function to age 90 years. Arch Intern Med (2008) 2.67
An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet (2005) 2.66
GOLDsurfer: three dimensional display of linkage disequilibrium. Bioinformatics (2004) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Efficient selective screening of haplotype tag SNPs. Bioinformatics (2003) 2.57
An 18-kDa translocator protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28. J Cereb Blood Flow Metab (2011) 2.52
Use of genome-wide association studies for drug repositioning. Nat Biotechnol (2012) 2.51
The impact of genotyping error on haplotype reconstruction and frequency estimation. Eur J Hum Genet (2002) 2.51
Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron (2003) 2.50
mTORC1 promotes survival through translational control of Mcl-1. Proc Natl Acad Sci U S A (2008) 2.50
Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nat Genet (2001) 2.48
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet (2012) 2.45
Designing candidate gene and genome-wide case-control association studies. Nat Protoc (2007) 2.42
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem (2006) 2.34
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
Dietary fiber intake and cardiometabolic risks among US adults, NHANES 1999-2010. Am J Med (2013) 2.27
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease. Proc Natl Acad Sci U S A (2013) 2.21
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol (2012) 2.20
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet (2011) 2.12
Oncogenic EGFR signaling cooperates with loss of tumor suppressor gene functions in gliomagenesis. Proc Natl Acad Sci U S A (2009) 2.11
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature (2010) 2.10
Association between estrogen receptor alpha gene variation and cardiovascular disease. JAMA (2003) 2.10
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A (2010) 2.10
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med (2008) 2.10
Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway. Mol Cell Biol (2009) 2.06
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. J Clin Invest (2007) 2.05
Incidence of cardiovascular disease and cancer in advanced age: prospective cohort study. BMJ (2008) 2.01
A genome-wide scan for loci linked to plasma levels of glucose and HbA(1c) in a community-based sample of Caucasian pedigrees: The Framingham Offspring Study. Diabetes (2002) 1.99
The portability of tagSNPs across populations: a worldwide survey. Genome Res (2006) 1.99