Published in Hum Mol Genet on May 21, 2007
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature (2008) 2.98
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS One (2010) 1.37
Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders. Mol Psychiatry (2013) 1.22
Molecular stages of rapid and uniform neuralization of human embryonic stem cells. Cell Death Differ (2009) 1.19
Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A (2010) 1.11
Genomic sister-disorders of neurodevelopment: an evolutionary approach. Evol Appl (2009) 1.09
RhoE deficiency produces postnatal lethality, profound motor deficits and neurodevelopmental delay in mice. PLoS One (2011) 1.05
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet (2012) 1.04
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet (2012) 1.03
Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior. Curr Genomics (2010) 0.93
Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes. Curr Genomics (2009) 0.90
Genetic architecture of reciprocal CNVs. Curr Opin Genet Dev (2013) 0.88
Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss. PLoS Genet (2010) 0.87
Sensitized phenotypic screening identifies gene dosage sensitive region on chromosome 11 that predisposes to disease in mice. EMBO Mol Med (2011) 0.84
Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. Am J Med Genet A (2013) 0.80
Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. PLoS One (2014) 0.80
Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders. Brain Struct Funct (2014) 0.78
Complete or partial reduction of the Met receptor tyrosine kinase in distinct circuits differentially impacts mouse behavior. J Neurodev Disord (2015) 0.78
Ameliorative effects of a combination of baicalin, jasminoidin and cholic acid on ibotenic acid-induced dementia model in rats. PLoS One (2013) 0.77
Increased expression of retinoic acid-induced gene 1 in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and major depression. Neuropsychiatr Dis Treat (2015) 0.77
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). PLoS One (2016) 0.75
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome. Orphanet J Rare Dis (2015) 0.75
Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain. Sci Rep (2016) 0.75
The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications. Autism Res Treat (2011) 0.75
Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome. Neuron (2016) 0.75
Yin-yang actions of histone methylation regulatory complexes in the brain. Epigenomics (2016) 0.75
RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome. J Pediatr Genet (2017) 0.75
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimer's disease. Neuron (2007) 6.60
A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron (2002) 5.71
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature (2010) 5.11
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet (2002) 4.51
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet (2004) 4.45
Completing the map of human genetic variation. Nature (2007) 4.38
Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy. Nat Neurosci (2005) 4.18
Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein. J Neurosci (2002) 4.01
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression. Neuron (2006) 3.37
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet (2002) 3.12
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
BK channel beta4 subunit reduces dentate gyrus excitability and protects against temporal lobe seizures. Nat Neurosci (2005) 3.05
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature (2005) 2.98
Amyloid-β/Fyn-induced synaptic, network, and cognitive impairments depend on tau levels in multiple mouse models of Alzheimer's disease. J Neurosci (2011) 2.96
Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3. Neuron (2008) 2.96
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell (2011) 2.93
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
Fluoride toothpastes of different concentrations for preventing dental caries in children and adolescents. Cochrane Database Syst Rev (2010) 2.78
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Marble burying reflects a repetitive and perseverative behavior more than novelty-induced anxiety. Psychopharmacology (Berl) (2009) 2.76
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
Maternal methyl supplements increase offspring DNA methylation at Axin Fused. Genesis (2006) 2.70
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Complex human chromosomal and genomic rearrangements. Trends Genet (2009) 2.66
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
DNA data sharing: research participants' perspectives. Genet Med (2008) 2.63
Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet (2004) 2.61
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet (2007) 2.60
Two-year seizure reduction in adults with medically intractable partial onset epilepsy treated with responsive neurostimulation: final results of the RNS System Pivotal trial. Epilepsia (2014) 2.60
Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet (2005) 2.59
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet (2003) 2.37
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol (2006) 2.25
Genome structural variation and sporadic disease traits. Nat Genet (2006) 2.23
Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction. J Neurosci (2003) 2.18
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol (2009) 2.07
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet (2003) 2.04
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
The nicotinic acetylcholine receptor subunit alpha 5 mediates short-term effects of nicotine in vivo. Mol Pharmacol (2003) 2.00
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron (2002) 1.97
Short-term outcomes of aflibercept for neovascular age-related macular degeneration in eyes previously treated with other vascular endothelial growth factor inhibitors. Am J Ophthalmol (2013) 1.97
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet (2011) 1.93
Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci (2004) 1.92
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
Models for epilepsy and epileptogenesis: report from the NIH workshop, Bethesda, Maryland. Epilepsia (2002) 1.91
Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev (2002) 1.90
Suppression of PKR promotes network excitability and enhanced cognition by interferon-γ-mediated disinhibition. Cell (2011) 1.89
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet (2005) 1.87
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet (2006) 1.86
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet (2002) 1.86
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum Mol Genet (2005) 1.84
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature (2006) 1.81
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet (2003) 1.81
Neuronal LRP1 functionally associates with postsynaptic proteins and is required for normal motor function in mice. Mol Cell Biol (2004) 1.81