PubRank

Gerard D Schellenberg

Author PubWeight™ 253.05‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010 14.66
2 Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007 14.05
3 Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012 13.71
4 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 2011 10.07
5 Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009 9.47
6 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013 8.02
7 Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009 7.39
8 Dementia and Alzheimer disease incidence: a prospective cohort study. Arch Neurol 2002 5.69
9 Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010 5.52
10 TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008 5.33
11 Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014 5.30
12 Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012 5.18
13 A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010 3.42
14 Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009 3.42
15 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 2011 2.97
16 Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol 2010 2.91
17 Age and apolipoprotein E*4 allele effects on cerebrospinal fluid beta-amyloid 42 in adults with normal cognition. Arch Neurol 2006 2.79
18 Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. Lancet Neurol 2007 2.72
19 Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA 2013 2.58
20 Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 2012 2.46
21 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013 2.45
22 Age-varying association between statin use and incident Alzheimer's disease. J Am Geriatr Soc 2010 2.34
23 Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet 2012 2.23
24 Defining the broader phenotype of autism: genetic, brain, and behavioral perspectives. Dev Psychopathol 2002 2.21
25 GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology 2012 2.19
26 The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol 2010 2.19
27 Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics 2002 2.16
28 GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron 2013 2.13
29 Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology 2012 2.08
30 Intranasal insulin administration dose-dependently modulates verbal memory and plasma amyloid-beta in memory-impaired older adults. J Alzheimers Dis 2008 2.08
31 High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet 2005 2.08
32 Paraoxonase activity, but not haplotype utilizing the linkage disequilibrium structure, predicts vascular disease. Arterioscler Thromb Vasc Biol 2003 2.01
33 Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol 2012 1.97
34 Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis. Acta Neuropathol 2010 1.96
35 Vitamin C and E intake is associated with increased paraoxonase activity. Arterioscler Thromb Vasc Biol 2002 1.93
36 Neurodegeneration and defective neurotransmission in a Caenorhabditis elegans model of tauopathy. Proc Natl Acad Sci U S A 2003 1.90
37 Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 2008 1.89
38 Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann Neurol 2007 1.88
39 Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Ann Neurol 2005 1.83
40 Effect of statins on Alzheimer's disease biomarkers in cerebrospinal fluid. J Alzheimers Dis 2006 1.82
41 APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. Am J Med Genet B Neuropsychiatr Genet 2005 1.80
42 Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association. Genomics 2007 1.78
43 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med 2010 1.75
44 Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nat Genet 2012 1.63
45 Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet 2013 1.53
46 Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. Am J Hum Genet 2004 1.51
47 Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics 2013 1.51
48 Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment. Am J Hum Genet 2004 1.51
49 Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet 2013 1.48
50 Presence of large deletions in kindreds with autism. Am J Hum Genet 2002 1.47
51 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
52 An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann Neurol 2002 1.44
53 Reduced hippocampal insulin-degrading enzyme in late-onset Alzheimer's disease is associated with the apolipoprotein E-epsilon4 allele. Am J Pathol 2003 1.44
54 Preclinical evidence of Alzheimer changes: convergent cerebrospinal fluid biomarker and fluorodeoxyglucose positron emission tomography findings. Arch Neurol 2009 1.44
55 Insulin dose-response effects on memory and plasma amyloid precursor protein in Alzheimer's disease: interactions with apolipoprotein E genotype. Psychoneuroendocrinology 2003 1.44
56 A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 2011 1.43
57 Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. Arch Neurol 2006 1.42
58 APOE ε4 increases risk for dementia in pure synucleinopathies. JAMA Neurol 2013 1.41
59 Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels. J Alzheimers Dis 2008 1.40
60 Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism. Arch Gen Psychiatry 2007 1.36
61 Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study. BMC Neurol 2010 1.32
62 Tau isoform regulation is region- and cell-specific in mouse brain. J Comp Neurol 2008 1.29
63 Developmental and vascular risk factors for Alzheimer's disease. Neurobiol Aging 2005 1.28
64 SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PLoS One 2013 1.23
65 Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease. J Neurol Neurosurg Psychiatry 2007 1.22
66 LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease. Mov Disord 2009 1.22
67 Regulation of tau isoform expression and dementia. Biochim Biophys Acta 2005 1.21
68 A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. FEBS Lett 2008 1.17
69 Salivary cortisol and memory function in human aging. Neurobiol Aging 2005 1.16
70 SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegans. Hum Mol Genet 2009 1.16
71 Design of comprehensive Alzheimer's disease centers to address unmet national needs. Alzheimers Dement 2010 1.14
72 Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Ann Neurol 2011 1.13
73 Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia. Hum Mol Genet 2006 1.13
74 Molecular pathways that influence human tau-induced pathology in Caenorhabditis elegans. Hum Mol Genet 2006 1.10
75 tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites. J Biol Chem 2002 1.08
76 ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. Acta Neuropathol 2014 1.07
77 Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Delta280K AND N279K. J Biol Chem 2005 1.07
78 The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status. J Lipid Res 2005 1.06
79 Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer disease. Arch Neurol 2006 1.05
80 SUT-1 enables tau-induced neurotoxicity in C. elegans. Hum Mol Genet 2007 1.04
81 Creating a transatlantic research enterprise for preventing Alzheimer's disease. Alzheimers Dement 2009 1.02
82 Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Ann Hum Genet 2013 1.02
83 Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 2011 1.01
84 A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. J Lipid Res 2007 0.99
85 Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Arch Neurol 2008 0.98
86 ADLAPH: A molecular haplotyping method based on allele-discriminating long-range PCR. Genomics 2004 0.98
87 Heterogeneous association between engrailed-2 and autism in the CPEA network. Am J Med Genet B Neuropsychiatr Genet 2008 0.97
88 A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia. Neurobiol Dis 2006 0.97
89 Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series. J Alzheimers Dis 2006 0.96
90 Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. Hum Genet 2010 0.96
91 Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation. J Neurochem 2003 0.96
92 Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease. Arch Neurol 2008 0.95
93 Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease. Arch Neurol 2006 0.95
94 The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease. Acta Neuropathol Commun 2013 0.95
95 Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. PLoS One 2013 0.94
96 Apolipoprotein E epsilon4 and change in cognitive functioning in community-dwelling older adults. J Geriatr Psychiatry Neurol 2005 0.94
97 Altered medial temporal lobe responses during visuospatial encoding in healthy APOE*4 carriers. Neurobiol Aging 2007 0.94
98 TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease. J Lipid Res 2006 0.92
99 An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Mol Autism 2011 0.92
100 Mortality, dementia, and apolipoprotein E genotype in elderly white women in the United States. J Am Geriatr Soc 2009 0.91
101 Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates. Hum Mol Genet 2009 0.91
102 Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families. Am J Med Genet B Neuropsychiatr Genet 2010 0.90
103 Effects of apolipoprotein E-epsilon4 and -epsilon2 in amnestic mild cognitive impairment and dementia in Shanghai: SCOBHI-P. Am J Alzheimers Dis Other Demen 2010 0.89
104 Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk. Mol Autism 2010 0.88
105 C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex. JAMA Neurol 2013 0.86
106 Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Am J Med Genet B Neuropsychiatr Genet 2004 0.85
107 Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants. Alzheimer Dis Assoc Disord 2002 0.84
108 DRAW+SneakPeek: analysis workflow and quality metric management for DNA-seq experiments. Bioinformatics 2013 0.83
109 Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's disease. Hum Hered 2007 0.83
110 No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network. Am J Med Genet 2002 0.83
111 Analysis of the LRRK2 G2019S mutation in Alzheimer Disease. Arch Neurol 2006 0.82
112 APOE genotype is associated with oral herpetic lesions but not genital or oral herpes simplex virus shedding. Sex Transm Infect 2010 0.82
113 Visualizing disease associations: graphic analysis of frequency distributions as a function of age using moving average plots (MAP) with application to Alzheimer's and Parkinson's disease. Genet Epidemiol 2010 0.82
114 Autism risk assessment in siblings of affected children using sex-specific genetic scores. Mol Autism 2011 0.82
115 PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. Ann Neurol 2014 0.81
116 Effects of insulin and octreotide on memory and growth hormone in Alzheimer's disease. J Alzheimers Dis 2009 0.81
117 Using Caenorhabditis elegans models of neurodegenerative disease to identify neuroprotective strategies. Int Rev Neurobiol 2007 0.80
118 The Arctic AβPP mutation leads to Alzheimer's disease pathology with highly variable topographic deposition of differentially truncated Aβ. Acta Neuropathol Commun 2013 0.80
119 Apolipoprotein E highly correlates with AbetaPP- and tau-related markers in human cerebrospinal fluid. J Alzheimers Dis 2008 0.80
120 Incidence rates of dementia, Alzheimer disease, and vascular dementia in the Japanese American population in Seattle, WA: the Kame Project. Alzheimer Dis Assoc Disord 2014 0.78
121 Ex vivo measures of LDL oxidative susceptibility predict carotid artery disease. Atherosclerosis 2004 0.77
122 Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism. BMC Neurol 2005 0.77
123 Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset. Am J Med Genet B Neuropsychiatr Genet 2013 0.76
124 Alzheimer disease genes: presenilin 2 mutation number 9 and still counting. Arch Neurol 2003 0.75
125 The ALS/PDC syndrome of Guam and the cycad hypothesis. Neurology 2009 0.75
126 Research goals in progressive supranuclear palsy. Mov Disord 2000 0.75