Published in Epilepsia on April 11, 2011
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Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet (2009) 8.44
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature (2011) 4.56
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Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet (2009) 3.54
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39
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Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet (2006) 3.13
The Next PAGE in understanding complex traits: design for the analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study. Am J Epidemiol (2011) 2.98
Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet (2002) 2.90
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet (2006) 2.89
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Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet (2003) 2.71
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Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation (2008) 2.56
A high-density screen for linkage in multiple sclerosis. Am J Hum Genet (2005) 2.50
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GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron (2013) 2.13
Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genet Med (2010) 2.09
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Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk. Ann Neurol (2011) 2.01
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol (2003) 2.01
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet (2012) 2.00
A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann Neurol (2007) 1.99
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. Hum Mol Genet (2003) 1.98
Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol (2012) 1.97
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet (2008) 1.95
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 1.85
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet (2007) 1.83
Aphasic or amnesic status epilepticus detected on PET but not EEG. Epilepsia (2008) 1.81
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet (2010) 1.80
Recurrent tissue-specific mtDNA mutations are common in humans. PLoS Genet (2013) 1.77
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. J Am Coll Cardiol (2008) 1.77
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet (2011) 1.77
Efficacy and safety of oral lacosamide as adjunctive therapy in adults with partial-onset seizures. Epilepsia (2007) 1.74
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. Am J Ophthalmol (2005) 1.73
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. Am J Hum Genet (2004) 1.71
Vitamin D from different sources is inversely associated with Parkinson disease. Mov Disord (2014) 1.67
Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet (2007) 1.67
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nat Genet (2012) 1.63
Meta-analysis of the association between variants in SORL1 and Alzheimer disease. Arch Neurol (2011) 1.59
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet (2003) 1.56
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. Am J Hum Genet (2007) 1.55
Obstructive sleep apnea is associated with seizure occurrence in older adults with epilepsy. Neurology (2007) 1.52
Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci (2006) 1.51
Is it time to replace the Wada test? Neurology (2002) 1.50
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet (2004) 1.50
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet (2013) 1.49
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet (2012) 1.46
Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet (2005) 1.44
Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol (2006) 1.43
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Rhythmic delta activity represents a form of nonconvulsive status epilepticus in anti-NMDA receptor antibody encephalitis. Epilepsy Behav (2010) 1.42
Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study. AIDS (2005) 1.39
C3 R102G polymorphism increases risk of age-related macular degeneration. Hum Mol Genet (2008) 1.39
Problems with genome-wide association studies. Science (2007) 1.39
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet (2013) 1.39
Association between apolipoprotein E genotype and Alzheimer disease in African American subjects. Arch Neurol (2002) 1.37
Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22. Am J Hum Genet (2003) 1.35
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. Mol Vis (2004) 1.35
Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Neurogenetics (2006) 1.33
The epilepsy phenome/genome project. Clin Trials (2013) 1.32
GATA2 is associated with familial early-onset coronary artery disease. PLoS Genet (2006) 1.32
Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. Hum Mol Genet (2004) 1.29
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum Mol Genet (2012) 1.29
Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study. Am Heart J (2003) 1.28
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. Mol Autism (2011) 1.27
Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. BMC Genet (2004) 1.27
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality. Genet Epidemiol (2011) 1.26
Brivaracetam as adjunctive treatment for uncontrolled partial epilepsy in adults: a phase III randomized, double-blind, placebo-controlled trial. Epilepsia (2013) 1.25
Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population. Invest Ophthalmol Vis Sci (2011) 1.23
Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration. PLoS One (2008) 1.23
A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. Am J Med Genet B Neuropsychiatr Genet (2004) 1.23