PubRank

Joseph D Buxbaum

Author PubWeight™ 233.28‹?›

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 Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014 5.30
9 A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010 3.42
10 Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009 3.42
11 A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet 2011 3.13
12 Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol 2010 2.91
13 Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. Proc Natl Acad Sci U S A 2005 2.76
14 Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution. Nat Genet 2013 2.76
15 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
16 Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 2012 2.46
17 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013 2.45
18 Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet 2013 2.41
19 Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia. Nat Neurosci 2004 2.28
20 Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S. J Neurosci 2010 2.20
21 Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology 2012 2.08
22 Strong synaptic transmission impact by copy number variations in schizophrenia. Proc Natl Acad Sci U S A 2010 1.85
23 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet 2011 1.85
24 Gene expression patterns associated with posttraumatic stress disorder following exposure to the World Trade Center attacks. Biol Psychiatry 2009 1.85
25 A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A 2012 1.85
26 The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci 2009 1.84
27 Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet 2010 1.80
28 Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. J Neurosci 2012 1.71
29 Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet 2011 1.63
30 PGC-1alpha expression decreases in the Alzheimer disease brain as a function of dementia. Arch Neurol 2009 1.61
31 Family-based association tests for sequence data, and comparisons with population-based association tests. Eur J Hum Genet 2013 1.55
32 Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet 2013 1.53
33 HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activity. Nat Neurosci 2012 1.52
34 Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics 2013 1.51
35 The amyloid precursor protein and its regulatory protein, FE65, in growth cones and synapses in vitro and in vivo. J Neurosci 2003 1.50
36 Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet 2013 1.48
37 A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 2011 1.43
38 Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am J Psychiatry 2004 1.40
39 Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Am J Hum Genet 2013 1.39
40 A genome-wide study reveals copy number variants exclusive to childhood obesity cases. Am J Hum Genet 2010 1.36
41 Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia. Prog Neurobiol 2010 1.36
42 Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res 2010 1.35
43 Insulin degrading enzyme activity selectively decreases in the hippocampal formation of cases at high risk to develop Alzheimer's disease. Neurobiol Aging 2006 1.32
44 Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism 2013 1.32
45 An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. Am J Med Genet B Neuropsychiatr Genet 2008 1.31
46 Altered Abeta formation and long-term potentiation in a calsenilin knock-out. J Neurosci 2003 1.27
47 Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia. Proc Natl Acad Sci U S A 2006 1.25
48 A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions. Nat Genet 2002 1.24
49 Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. Am J Hum Genet 2012 1.23
50 Molecular and cellular evidence for an oligodendrocyte abnormality in schizophrenia. Neurochem Res 2002 1.23
51 Epigenetic Biomarkers as Predictors and Correlates of Symptom Improvement Following Psychotherapy in Combat Veterans with PTSD. Front Psychiatry 2013 1.22
52 Symptom domains in autism and related conditions: evidence for familiality. Am J Med Genet 2002 1.21
53 Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay. Mol Autism 2013 1.20
54 DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Mol Autism 2014 1.20
55 Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model. PLoS One 2009 1.19
56 The carboxyl-terminus of BACE contains a sorting signal that regulates BACE trafficking but not the formation of total A(beta). Mol Cell Neurosci 2002 1.18
57 The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum Mutat 2013 1.17
58 The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison. Eur Child Adolesc Psychiatry 2014 1.16
59 A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity. Biochim Biophys Acta 2004 1.15
60 Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics 2008 1.15
61 SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Mol Autism 2013 1.14
62 Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. Proc Natl Acad Sci U S A 2013 1.13
63 Pepsin pretreatment allows collagen IV immunostaining of blood vessels in adult mouse brain. J Neurosci Methods 2007 1.12
64 Genetic markers for PTSD risk and resilience among survivors of the World Trade Center attacks. Dis Markers 2011 1.11
65 Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. Am J Med Genet B Neuropsychiatr Genet 2008 1.08
66 Receptor protein tyrosine phosphatase gamma is a marker for pyramidal cells and sensory neurons in the nervous system and is not necessary for normal development. Mol Cell Biol 2006 1.06
67 SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent manner. Biol Psychiatry 2009 1.05
68 Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophrenia. Arch Gen Psychiatry 2006 1.04
69 In vivo 1H-magnetic resonance spectroscopy study of the attentional networks in autism. Brain Res 2010 1.03
70 A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Mol Autism 2010 1.03
71 Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice. PLoS One 2012 1.01
72 Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. PLoS Genet 2013 1.00
73 Linking white and grey matter in schizophrenia: oligodendrocyte and neuron pathology in the prefrontal cortex. Front Neuroanat 2009 0.99
74 Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Eur J Hum Genet 2011 0.99
75 Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. Hum Mol Genet 2004 0.99
76 AnnTools: a comprehensive and versatile annotation toolkit for genomic variants. Bioinformatics 2012 0.99
77 Familial symptom domains in monozygotic siblings with autism. Am J Med Genet B Neuropsychiatr Genet 2004 0.98
78 Lack of evidence for association of the serotonin transporter gene SLC6A4 with autism. Biol Psychiatry 2006 0.95
79 Transcriptional profiling of C57 and DBA strains of mice in the absence and presence of morphine. BMC Genomics 2007 0.95
80 A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branching. Mol Cell Neurosci 2007 0.95
81 Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide. J Neurosci 2012 0.95
82 Brief report: the Autism Mental Status Examination: development of a brief autism-focused exam. J Autism Dev Disord 2012 0.94
83 Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities. Brain Res 2010 0.93
84 Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders. Biol Psychiatry 2009 0.92
85 The genetics of autism spectrum disorders. Neuromolecular Med 2006 0.92
86 FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4. PLoS One 2009 0.91
87 BACE1 and BACE2 in pathologic and normal human muscle. Exp Neurol 2003 0.91
88 Elevated plasma cholesterol does not affect brain Abeta in mice lacking the low-density lipoprotein receptor. J Neurochem 2007 0.90
89 Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays. Proc Natl Acad Sci U S A 2005 0.90
90 Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold. Mol Neurodegener 2011 0.89
91 Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability. Am J Med Genet C Semin Med Genet 2012 0.88
92 Calsenilin regulates presenilin 1/γ-secretase-mediated N-cadherin ε-cleavage and β-catenin signaling. FASEB J 2011 0.88
93 APOE genotype results in differential effects on the peripheral clearance of amyloid-beta42 in APOE knock-in and knock-out mice. J Alzheimers Dis 2010 0.88
94 Complex autism spectrum disorder in a patient with a 17q12 microduplication. Am J Med Genet A 2012 0.87
95 Atorvastatin-induced activation of Alzheimer's alpha secretase is resistant to standard inhibitors of protein phosphorylation-regulated ectodomain shedding. J Neurochem 2004 0.87
96 Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family. Psychiatr Genet 2005 0.86
97 Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviors. Psychiatr Genet 2006 0.86
98 Increased locomotor activity in mice lacking the low-density lipoprotein receptor. Behav Brain Res 2008 0.86
99 Loss of function studies in mice and genetic association link receptor protein tyrosine phosphatase α to schizophrenia. Biol Psychiatry 2011 0.85
100 Dietary composition modulates brain mass and solubilizable Abeta levels in a mouse model of aggressive Alzheimer's amyloid pathology. Mol Neurodegener 2009 0.85
101 Novel cerebrovascular pathology in mice fed a high cholesterol diet. Mol Neurodegener 2009 0.85
102 A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders. Autism Res 2008 0.85
103 Intracellular calcium modulates the nuclear translocation of calsenilin. J Neurochem 2004 0.85
104 Family-based association study of TPH1 and TPH2 polymorphisms in autism. Am J Med Genet B Neuropsychiatr Genet 2006 0.84
105 Disease susceptibility genes for autism. Ann Med 2003 0.84
106 Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA Neurol 2015 0.84
107 De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. BMC Med Genet 2014 0.84
108 Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. Hum Genet 2012 0.84
109 Advancing paternal age and simplex autism. Autism 2011 0.83
110 Recent advances in the genetics of autism spectrum disorder. Curr Neurol Neurosci Rep 2015 0.83
111 Neuropathology of the anterior midcingulate cortex in young children with autism. J Neuropathol Exp Neurol 2014 0.83
112 Calsenilin interacts with transcriptional co-repressor C-terminal binding protein(s). J Neurochem 2006 0.83
113 PERIPHERAL MYELIN PROTEIN-22 IS EXPRESSED IN CNS MYELIN. Transl Neurosci 2010 0.82
114 Profiling brain and plasma lipids in human APOE epsilon2, epsilon3, and epsilon4 knock-in mice using electrospray ionization mass spectrometry. J Alzheimers Dis 2010 0.82
115 Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton. Brain Res 2006 0.82
116 Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease. Neurobiol Aging 2010 0.82
117 Evidence against roles for phorbol binding protein Munc13-1, ADAM adaptor Eve-1, or vesicle trafficking phosphoproteins Munc18 or NSF as phospho-state-sensitive modulators of phorbol/PKC-activated Alzheimer APP ectodomain shedding. Mol Neurodegener 2007 0.81
118 PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation. Ann Neurol 2014 0.81
119 PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility. Psychiatr Genet 2010 0.81
120 Downstream regulatory element antagonistic modulator regulates islet prodynorphin expression. Am J Physiol Endocrinol Metab 2006 0.81
121 Regeneration in the era of functional genomics and gene network analysis. Biol Bull 2011 0.81
122 The emerging neuroscience of autism spectrum disorders. Brain Res 2011 0.80
123 Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism. Mol Autism 2014 0.80
124 Copy number variations in alternative splicing gene networks impact lifespan. PLoS One 2013 0.80
125 Autism and ultraconserved non-coding sequence on chromosome 7q. Psychiatr Genet 2006 0.79
126 Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease. Mol Neurodegener 2010 0.79
127 Lack of association between the levels of the low-density lipoprotein receptor-related protein (LRP) and either Alzheimer dementia or LRP exon 3 genotype. J Neuropathol Exp Neurol 2003 0.79
128 Characterization of SLITRK1 variation in obsessive-compulsive disorder. PLoS One 2013 0.79
129 Expression of calsenilin in neurons and astrocytes in the Alzheimer's disease brain. Neuroreport 2005 0.79
130 The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. J Mol Med (Berl) 2013 0.79
131 Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Hum Genet 2011 0.77
132 The effect of an autism-associated polymorphism in the STK39 gene on the autism symptom domains. J Autism Dev Disord 2012 0.75
133 Calsenilin is degraded by the ubiquitin-proteasome pathway. Biochem Biophys Res Commun 2011 0.75
134 Use of the Split-Ubiquitin Two-Hybrid System to Identify Proteins Interacting With the Alzheimer Proteins APP and LRP. Biol Bull 2004 0.75
135 The autism mental status exam: sensitivity and specificity using DSM-5 criteria for autism spectrum disorder in verbally fluent adults. J Autism Dev Disord 2014 0.75
136 No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set. Autism Res 2011 0.75