Published in Transl Psychiatry on August 30, 2011
Parental Age at Birth and Risk of Hematological Malignancies in Older Adults. Am J Epidemiol (2015) 1.22
Autism risk across generations: a population-based study of advancing grandpaternal and paternal age. JAMA Psychiatry (2013) 1.07
"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders. Am J Psychiatry (2013) 1.00
Ageing of the male germ line. Nat Rev Urol (2013) 0.99
The role of AUTS2 in neurodevelopment and human evolution. Trends Genet (2013) 0.97
Autism risk associated with parental age and with increasing difference in age between the parents. Mol Psychiatry (2015) 0.94
Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression. Mol Psychiatry (2014) 0.92
Strictly co-isogenic C57BL/6J-Prnp-/- mice: A rigorous resource for prion science. J Exp Med (2016) 0.82
The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level. PLoS One (2014) 0.78
Comparative two-dimensional polyacrylamide gel electrophoresis of the salivary proteome of children with autism spectrum disorder. J Cell Mol Med (2015) 0.77
The 4th Schizophrenia International Research Society Conference, 5-9 April 2014, Florence, Italy: a summary of topics and trends. Schizophr Res (2014) 0.75
Non-telomeric epigenetic and genetic changes are associated with the inheritance of shorter telomeres in mice. Chromosoma (2013) 0.75
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res (2005) 30.44
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
McKusick's Online Mendelian Inheritance in Man (OMIM). Nucleic Acids Res (2008) 12.83
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet (2008) 10.19
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
Whole-genome association study of bipolar disorder. Mol Psychiatry (2008) 6.80
The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet (2000) 6.44
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44
Epigenomic profiling reveals DNA-methylation changes associated with major psychosis. Am J Hum Genet (2008) 4.71
Mouse segmental duplication and copy number variation. Nat Genet (2008) 4.24
Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol Psychiatry (2008) 4.14
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res (2006) 3.68
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry (2009) 3.56
Advancing paternal age and the risk of schizophrenia. Arch Gen Psychiatry (2001) 3.48
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39
A high-resolution map of segmental DNA copy number variation in the mouse genome. PLoS Genet (2006) 3.24
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
Advancing paternal age and bipolar disorder. Arch Gen Psychiatry (2008) 2.56
Recurrent DNA copy number variation in the laboratory mouse. Nat Genet (2007) 2.40
Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies. Mol Psychiatry (2010) 2.36
Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry (2010) 2.11
Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry (2008) 2.07
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proc Natl Acad Sci U S A (2011) 2.01
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet (2007) 2.00
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry (2010) 1.95
Genomic segmental polymorphisms in inbred mouse strains. Nat Genet (2004) 1.93
Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood. PLoS Med (2009) 1.89
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications. Genome Res (2006) 1.69
Phenotypic variations on the theme of CNVs. Nat Genet (2008) 1.58
Advanced paternal age: how old is too old? J Epidemiol Community Health (2006) 1.55
Meta-analysis of paternal age and schizophrenia risk in male versus female offspring. Schizophr Bull (2010) 1.55
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48
Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age. Eur J Hum Genet (2003) 1.45
The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet (2003) 1.37
A searchable database of genetic evidence for psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet (2008) 1.31
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet (2009) 1.24
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet (1998) 1.24
Aberrant epigenetic regulation could explain the relationship of paternal age to schizophrenia. Schizophr Bull (2007) 1.24
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Ann Neurol (2010) 1.21
A high-density SNP genome-wide linkage scan in a large autism extended pedigree. Mol Psychiatry (2008) 1.20
Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model. PLoS One (2009) 1.19
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet (2000) 1.17
A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A (2010) 1.14
Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases. Am J Med Genet (1984) 1.11
Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. Hum Genet (1988) 1.05
Reference-unbiased copy number variant analysis using CGH microarrays. Nucleic Acids Res (2010) 1.03
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age. J Med Genet (2009) 1.01
A gene spans the pseudoautosomal boundary in mice. Proc Natl Acad Sci U S A (1997) 0.96
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Hum Mutat (2008) 0.95
Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation. Ann Genet (1984) 0.95
Paternal age and epilepsy in the offspring. Eur J Epidemiol (2005) 0.95
Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum Genet (2006) 0.93
Advanced paternal age is associated with alterations in discrete behavioural domains and cortical neuroanatomy of C57BL/6J mice. Eur J Neurosci (2010) 0.92
Long-term effects of delayed fatherhood in mice on postnatal development and behavioral traits of offspring. Biol Reprod (2008) 0.91
Simultaneous quantitative and allele-specific expression analysis with real competitive PCR. BMC Genet (2004) 0.90
Decrease of learning capacity in offspring with increasing paternal age in the rat. Teratology (1983) 0.88
Functional polymorphisms in the sigma1 receptor gene associated with alcoholism. Biol Psychiatry (2004) 0.87
Decanalization, brain development and risk of schizophrenia. Transl Psychiatry (2011) 0.83
Association between sigma-1 receptor gene polymorphism and prefrontal hemodynamic response induced by cognitive activation in schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry (2009) 0.82
Aneuploidies and micronuclei in the germ cells of male mice of advanced age. Mutat Res (1995) 0.82
Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant. Am J Med Genet (1992) 0.78
Analysis of copy number variation using quantitative interspecies competitive PCR. Nucleic Acids Res (2008) 0.76
Epigenetic inheritance at the agouti locus in the mouse. Nat Genet (1999) 9.14
Repeat-induced gene silencing in mammals. Nat Genet (1998) 4.74
Development of a respiratory virus panel test for detection of twenty human respiratory viruses by use of multiplex PCR and a fluid microbead-based assay. J Clin Microbiol (2007) 4.55
Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end processing in the human alpha 2 globin gene. EMBO J (1986) 3.25
Replicate PCR testing and probit analysis for detection and quantitation of Chlamydia pneumoniae in clinical specimens. J Clin Microbiol (2001) 2.59
Isolation and characterization of the cDNA encoding BKLF/TEF-2, a major CACCC-box-binding protein in erythroid cells and selected other cells. Mol Cell Biol (1996) 2.31
Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair. Mol Cell Biol (1996) 2.21
Child health, developmental plasticity, and epigenetic programming. Endocr Rev (2010) 2.15
Urinary inhibitors of polymerase chain reaction and ligase chain reaction and testing of multiple specimens may contribute to lower assay sensitivities for diagnosing Chlamydia trachomatis infected women. Mol Cell Probes (1997) 2.14
Prevalence and predictors of human papillomavirus infection in women in Ontario, Canada. Survey of HPV in Ontario Women (SHOW) Group. CMAJ (2000) 2.12
Role of confirmatory PCRs in determining performance of Chlamydia Amplicor PCR with endocervical specimens from women with a low prevalence of infection. J Clin Microbiol (1994) 1.94
Detection of group C rotavirus in infants with extrahepatic biliary atresia. J Infect Dis (1996) 1.91
Do you see what I see? Weight status misperception and exposure to obesity among children and adolescents. Int J Obes (Lond) (2008) 1.90
To be or not to be active: the stochastic nature of enhancer action. Bioessays (2000) 1.88
The vagaries of variegating transgenes. Bioessays (1996) 1.84
Ability of commercial ligase chain reaction and PCR assays to diagnose Chlamydia trachomatis infections in men by testing first-void urine. J Clin Microbiol (1997) 1.81
Fetal ascites: an unusual presentation of Niemann-Pick disease type C. Arch Dis Child (1989) 1.77
Women's involvement with the decision preceding their caesarean section and their degree of satisfaction. Br J Obstet Gynaecol (1996) 1.76
Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. Am J Hum Genet (2006) 1.66
Health status of refugees from Vietnam, Laos, and Cambodia. JAMA (1982) 1.63
Analytical sensitivity, reproducibility of results, and clinical performance of five PCR assays for detecting Chlamydia pneumoniae DNA in peripheral blood mononuclear cells. J Clin Microbiol (2000) 1.63
Effects of lactation of ketogenesis from oleate or butyrate in rat hepatocytes. Biochem J (1977) 1.59
Position-dependent variegation of globin transgene expression in mice. Proc Natl Acad Sci U S A (1995) 1.58
Changes in the diagnosed incidence of early onset schizophrenia over four decades. Acta Psychiatr Scand (2012) 1.54
New techniques for biopsy and culture of human olfactory epithelial neurons. Arch Otolaryngol Head Neck Surg (1998) 1.51
The diagnostic interview for psychoses (DIP): development, reliability and applications. Psychol Med (2005) 1.48
The marks, mechanisms and memory of epigenetic states in mammals. Biochem J (2001) 1.43
Management guidelines of eosinophilic esophagitis in childhood. J Pediatr Gastroenterol Nutr (2014) 1.40
Use of refractometers to detect controlled-substance tampering. Am J Hosp Pharm (1991) 1.39
Vitamin D insufficiency in south-east Queensland. Med J Aust (2001) 1.33
Ability of the digene hybrid capture II test to identify Chlamydia trachomatis and Neisseria gonorrhoeae in cervical specimens. J Clin Microbiol (1999) 1.31
Developmental vitamin D deficiency causes abnormal brain development. Psychoneuroendocrinology (2009) 1.30
Variegated expression of a globin transgene correlates with chromatin accessibility but not methylation status. Nucleic Acids Res (1996) 1.29
Analysis of the human alpha-globin gene cluster in transgenic mice. Proc Natl Acad Sci U S A (1993) 1.25
Epigenetic mechanisms in the context of complex diseases. Cell Mol Life Sci (2007) 1.23
The antigen-presenting environment in normal and human papillomavirus (HPV)-related premalignant cervical epithelium. Clin Exp Immunol (1999) 1.21
Microscopic observation of intracellular ice formation in unfertilized mouse ova as a function of cooling rate. Cryobiology (1978) 1.21
Retrotransposon-derived elements in the mammalian genome: a potential source of disease. J Inherit Metab Dis (2004) 1.20
Age-dependent silencing of globin transgenes in the mouse. Nucleic Acids Res (1996) 1.19
Neuronal calcium-binding proteins and schizophrenia. Schizophr Res (2002) 1.19
Discovery and structure-activity relationships of imidazole-containing tetrahydrobenzodiazepine inhibitors of farnesyltransferase. J Med Chem (1999) 1.19
Reactivation of heritably silenced gene expression in mice. Mamm Genome (2000) 1.18
Depression of the ice-nucleation temperature of rapidly cooled mouse embryos by glycerol and dimethyl sulfoxide. Biophys J (1983) 1.15
Developmental Vitamin D3 deficiency alters the adult rat brain. Brain Res Bull (2005) 1.15
The developmental regulation of the human zeta-globin gene in transgenic mice employing beta-galactosidase as a reporter gene. Nucleic Acids Res (1992) 1.14
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. Ophthalmology (2001) 1.14
Studies in NZB IL-10 knockout mice of the requirement of IL-10 for progression of B-cell lymphoma. Leukemia (2004) 1.13
Multicenter comparison of nucleic acid extraction methods for detection of severe acute respiratory syndrome coronavirus RNA in stool specimens. J Clin Microbiol (2006) 1.13
Loss of G(1)/S checkpoint in human immunodeficiency virus type 1-infected cells is associated with a lack of cyclin-dependent kinase inhibitor p21/Waf1. J Virol (2000) 1.12
Use of doxorubicin and dacarbazine for the management of unresectable intra-abdominal desmoid tumors in Gardner's syndrome. Dis Colon Rectum (1994) 1.09
Impact of urine collection order on the ability of assays to identify Chlamydia trachomatis infections in men. Sex Transm Dis (2003) 1.07
Complex patterns of inheritance of an imprinted murine transgene suggest incomplete germline erasure. Nucleic Acids Res (2000) 1.07
Evaluation of the NucliSens Basic Kit for detection of Chlamydia trachomatis and Neisseria gonorrhoeae in genital tract specimens using nucleic acid sequence-based amplification of 16S rRNA. J Clin Microbiol (2001) 1.07
Transcriptional activity of the human pseudogene psi alpha globin compared with alpha globin, its functional gene counterpart. Nucleic Acids Res (1983) 1.06
Cardiovascular and respiratory observations during cerebral angiography. Anesth Analg (1965) 1.06
Hepatitis G virus encodes protease activities which can effect processing of the virus putative nonstructural proteins. J Virol (1998) 1.06
Modulation of cyclic guanosine monophosphate levels in cultured aortic smooth muscle cells by carbon monoxide. Biochem Pharmacol (1989) 1.06
A globin enhancer acts by increasing the proportion of erythrocytes expressing a linked transgene. Mol Cell Biol (1997) 1.05
Transcriptional up-regulation of the cyclin D2 gene and acquisition of new cyclin-dependent kinase partners in human T-cell leukemia virus type 1-infected cells. J Virol (1999) 1.04
Construction of a mini-intein fusion system to allow both direct monitoring of soluble protein expression and rapid purification of target proteins. Gene (2001) 1.03
A survey of antibiotic use in dentistry. J Am Dent Assoc (2000) 1.03
Beyond sleep duration: distinct sleep dimensions are associated with obesity in children and adolescents. Int J Obes (Lond) (2013) 1.03
Development of a novel microperfusion chamber for determination of cell membrane transport properties. Biophys J (1996) 1.02
Current methodologies used for evaluation of intestinal permeability and absorption. J Pharmacol Toxicol Methods (2001) 1.02
Abilities of APTIMA, AMPLICOR, and ProbeTec assays to detect Chlamydia trachomatis and Neisseria gonorrhoeae in PreservCyt ThinPrep Liquid-based Pap samples. J Clin Microbiol (2007) 1.02
Comparison of a multiplexed MassARRAY system with real-time allele-specific PCR technology for genotyping of methicillin-resistant Staphylococcus aureus. Clin Microbiol Infect (2011) 1.00
Membrane transport properties of mammalian oocytes: a micropipette perfusion technique. J Reprod Fertil (1994) 1.00
Intein-mediated rapid purification of Cre recombinase. Protein Expr Purif (2001) 0.99
Circulating nucleic acids of Chlamydia pneumoniae and cytomegalovirus in patients undergoing coronary angiography. J Clin Microbiol (2001) 0.98
Cognitive rehabilitation for people with schizophrenia and related conditions. Cochrane Database Syst Rev (2000) 0.98
ECT: misconceptions and attitudes. Aust N Z J Psychiatry (1982) 0.98
Pathological laughing and crying. Aust N Z J Psychiatry (1996) 0.97
Measurements of the membrane water permeability (Lp) and its temperature dependence (activation energy) in human fresh and failed-to-fertilize oocytes and mouse oocyte. Cryobiology (1992) 0.96
An experimental comparison of intracellular ice formation and freeze-thaw survival of HeLa S-3 cells. Cryobiology (1975) 0.95
Regulation of ketogenesis during the suckling-weanling transition in the rat. Studies with isolated hepatocytes. Biochem J (1979) 0.94
Parasite screening and treatment among Indochinese refugees. Cost-benefit/utility and the General Health Policy Model. JAMA (1985) 0.94
Fusions to self-splicing inteins for protein purification. Methods Enzymol (2000) 0.93
Transthoracic fine-needle aspiration biopsy of the lungs using a C-arm cone-beam CT system: diagnostic accuracy and post-procedural complications. Br J Radiol (2011) 0.93
Mechanisms for the pharmacologic interaction of organic nitrates with thiols. Existence of an extracellular pathway for the reversal of nitrate vascular tolerance by N-acetylcysteine. J Pharmacol Exp Ther (1988) 0.92
Direct demonstration of termination signals for RNA polymerase II from the sea urchin H2A histone gene. Nucleic Acids Res (1989) 0.91
tRNA-guanine transglycosylase from Escherichia coli. Overexpression, purification and quaternary structure. J Mol Biol (1993) 0.90
The gene for theta-globin is transcribed in human fetal erythroid tissues. Nature (1987) 0.90
A microscope diffusion chamber for the determination of the equilibrium and non-equilibrium osmotic response of individual cells. J Microsc (1985) 0.90
Cryomicroscope investigation and thermodynamic modeling of the freezing of unfertilized hamster ova. Cryobiology (1988) 0.89
The chicken beta-globin 5'HS4 boundary element blocks enhancer-mediated suppression of silencing. Mol Cell Biol (1999) 0.89
Do transmembrane domain neuregulin 1 mutant mice exhibit a reliable sensorimotor gating deficit? Behav Brain Res (2011) 0.89
Serine 90 is required for enzymic activity by tRNA-guanine transglycosylase from Escherichia coli. Biochemistry (1994) 0.89
Mapping the alpha-globin genes in an Algerian HbH patient and his family. Blood (1980) 0.89
Physiological responses of rats to intermittent high-altitude stress: effects of age. J Appl Physiol (1973) 0.89
The vitamin D receptor in dopamine neurons; its presence in human substantia nigra and its ontogenesis in rat midbrain. Neuroscience (2013) 0.88
High dose radiation therapy and chemotherapy as induction treatment for stage III nonsmall cell lung carcinoma. Cancer (2000) 0.88