Published in Nat Genet on July 28, 2013
Natural History of Rett Syndrome & Related Disorders | NCT02738281
Biobanking of Rett Syndrome and Related Disorders | NCT02705677
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet (2013) 1.16
Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome. Neurobiol Dis (2014) 0.91
Cholesterol in brain disease: sometimes determinant and frequently implicated. EMBO Rep (2014) 0.88
Exploring genetic suppression interactions on a global scale. Science (2016) 0.87
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes. Nat Med (2016) 0.87
Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing. Mamm Genome (2015) 0.84
PTP1B inhibition suggests a therapeutic strategy for Rett syndrome. J Clin Invest (2015) 0.84
Cholesterol metabolism is altered in Rett syndrome: a study on plasma and primary cultured fibroblasts derived from patients. PLoS One (2014) 0.83
Absence of strong strain effects in behavioral analyses of Shank3-deficient mice. Dis Model Mech (2014) 0.82
A role for metabolism in Rett syndrome pathogenesis: New clinical findings and potential treatment targets. Rare Dis (2013) 0.82
Anaplerotic triheptanoin diet enhances mitochondrial substrate use to remodel the metabolome and improve lifespan, motor function, and sociability in MeCP2-null mice. PLoS One (2014) 0.81
Cholesterol metabolism and Rett syndrome pathogenesis. Nat Genet (2013) 0.81
Effects of ω-3 polyunsaturated fatty acids on plasma proteome in Rett syndrome. Mediators Inflamm (2013) 0.80
Epigenetic regulation of cholesterol homeostasis. Front Genet (2014) 0.80
Genetic Approaches to Understanding Psychiatric Disease. Neurotherapeutics (2017) 0.80
Loss of MeCP2 in cholinergic neurons causes part of RTT-like phenotypes via α7 receptor in hippocampus. Cell Res (2016) 0.79
Lipid rafts: a signaling platform linking cholesterol metabolism to synaptic deficits in autism spectrum disorders. Front Behav Neurosci (2014) 0.79
Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder. Free Radic Biol Med (2015) 0.79
Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice. Nat Commun (2016) 0.78
Effects of ω-3 PUFAs supplementation on myocardial function and oxidative stress markers in typical Rett syndrome. Mediators Inflamm (2014) 0.78
Cholesterol metabolism is a potential therapeutic target for Rett syndrome. Clin Genet (2013) 0.78
Neuroscience. Path to treat Rett syndrome. Science (2013) 0.78
MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex. Hum Mol Genet (2016) 0.78
Suppression of brain cholesterol synthesis in male Mecp2-deficient mice is age dependent and not accompanied by a concurrent change in the rate of fatty acid synthesis. Brain Res (2016) 0.77
ENU Mutagenesis in the Mouse. Curr Protoc Hum Genet (2014) 0.77
Unexpected cellular players in Rett syndrome pathology. Neurobiol Dis (2015) 0.77
PTP1B: a new therapeutic target for Rett syndrome. J Clin Invest (2015) 0.77
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet (2016) 0.76
Alterations in the carnitine cycle in a mouse model of Rett syndrome. Sci Rep (2017) 0.75
Simvastatin inhibits protein isoprenylation in the brain. Neuroscience (2016) 0.75
Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes. J Clin Invest (2017) 0.75
Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome. PLoS One (2016) 0.75
Cholesterol in the Pathogenesis of Alzheimer's, Parkinson's Diseases and Autism: Link to Synaptic Dysfunction. Acta Naturae (2017) 0.75
A protocol for evaluation of Rett Syndrome symptom improvement by metabolic modulators in Mecp2-mutant mice. Curr Protoc Mouse Biol (2013) 0.75
Lovastatin fails to improve motor performance and survival in methyl-CpG-binding protein2-null mice. Elife (2016) 0.75
The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1. PLoS One (2014) 0.75
Severe changes in colon epithelium in the Mecp2-null mouse model of Rett syndrome. Mol Cell Pediatr (2016) 0.75
Methyl-CpG-Binding Protein MBD1 Regulates Neuronal Lineage Commitment through Maintaining Adult Neural Stem Cell Identity. J Neurosci (2017) 0.75
MeCP2 Related Studies Benefit from the Use of CD1 as Genetic Background. PLoS One (2016) 0.75
Sensitized mutagenesis screen in Factor V Leiden mice identifies thrombosis suppressor loci. Proc Natl Acad Sci U S A (2017) 0.75
D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome. PLoS One (2017) 0.75
From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health. Am J Hum Genet (2017) 0.75
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods (2001) 414.27
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics (2010) 52.01
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
R/qtl: QTL mapping in experimental crosses. Bioinformatics (2003) 22.38
Steatohepatitis: a tale of two "hits"? Gastroenterology (1998) 13.21
The blood-brain barrier in health and chronic neurodegenerative disorders. Neuron (2008) 10.19
MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (2008) 10.11
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet (2001) 9.82
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet (2001) 8.64
Reversal of neurological defects in a mouse model of Rett syndrome. Science (2007) 7.09
A circadian rhythm orchestrated by histone deacetylase 3 controls hepatic lipid metabolism. Science (2011) 5.91
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet (2004) 4.45
The art and design of genetic screens: Drosophila melanogaster. Nat Rev Genet (2002) 3.86
Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature (2012) 3.83
Role of liver in the maintenance of cholesterol and low density lipoprotein homeostasis in different animal species, including humans. J Lipid Res (1993) 3.64
A role for glia in the progression of Rett's syndrome. Nature (2011) 3.18
Mechanisms and functions of Hedgehog signalling across the metazoa. Nat Rev Genet (2011) 2.93
Functional genetic analysis of mouse chromosome 11. Nature (2003) 2.87
Safety of statins: focus on clinical pharmacokinetics and drug interactions. Circulation (2004) 2.49
Liver-specific deletion of histone deacetylase 3 disrupts metabolic transcriptional networks. EMBO J (2008) 2.44
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nat Rev Genet (2006) 2.42
Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron (2008) 2.36
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res (2006) 2.26
Knockout of the cholesterol 24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover. J Biol Chem (2003) 2.11
Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome. Neuron (2013) 2.00
Hepatic Hdac3 promotes gluconeogenesis by repressing lipid synthesis and sequestration. Nat Med (2012) 1.87
Suppressor screen in Mpl-/- mice: c-Myb mutation causes supraphysiological production of platelets in the absence of thrombopoietin signaling. Proc Natl Acad Sci U S A (2004) 1.81
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nat Neurosci (2013) 1.74
Mutation discovery in mice by whole exome sequencing. Genome Biol (2011) 1.69
Cholesterol 24-hydroxylase: an enzyme of cholesterol turnover in the brain. Annu Rev Biochem (2009) 1.61
A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell (2003) 1.61
2,3-oxidosqualene, an intermediate in the biological synthesis of sterols from squalene. J Am Chem Soc (1966) 1.60
Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. Nature (2013) 1.56
Cholesterol metabolism in neurons and astrocytes. Prog Lipid Res (2011) 1.48
A comprehensive method for extraction and quantitative analysis of sterols and secosteroids from human plasma. J Lipid Res (2012) 1.48
Quantitation of two pathways for cholesterol excretion from the brain in normal mice and mice with neurodegeneration. J Lipid Res (2003) 1.45
[Specific considerations on the prescription and therapeutic interchange of statins]. Farm Hosp (2011) 1.41
Technical approaches for mouse models of human disease. Dis Model Mech (2011) 1.36
Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases. Dis Model Mech (2012) 1.31
Central nervous system: cholesterol turnover, brain development and neurodegeneration. Biol Chem (2009) 1.25
Studies on squalene epoxidase of rat liver. J Biol Chem (1970) 1.24
Cholesterol-dependent degradation of squalene monooxygenase, a control point in cholesterol synthesis beyond HMG-CoA reductase. Cell Metab (2011) 1.18
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet (2008) 1.16
Marked differences in cholesterol synthesis between neurons and glial cells from postnatal rats. J Neurochem (2009) 1.15
Efficient localization of mutations by interval haplotype analysis. Mamm Genome (1998) 1.14
Identification of the Arabidopsis dry2/sqe1-5 mutant reveals a central role for sterols in drought tolerance and regulation of reactive oxygen species. Plant J (2009) 1.13
Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met. Curr Opin Neurobiol (2011) 1.12
Rett syndrome: exploring the autism link. Arch Neurol (2011) 1.11
Lipid dynamics in neurons. Biochem Soc Trans (2006) 1.11
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. J Biol Chem (2011) 1.10
Defects of cholesterol biosynthesis. FEBS Lett (2006) 1.09
Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochem Biophys Res Commun (2010) 1.08
Supernatant protein factor, which stimulates the conversion of squalene to lanosterol, is a cytosolic squalene transfer protein and enhances cholesterol biosynthesis. Proc Natl Acad Sci U S A (2001) 1.06
Genetic differences in cholesterol absorption in 129/Sv and C57BL/6 mice: effect on cholesterol responsiveness. Am J Physiol (1999) 1.06
Diet-induced elevations in serum cholesterol are associated with alterations in hippocampal lipid metabolism and increased oxidative stress. J Neurochem (2011) 1.05
Sources of cholesterol during development of the rat fetus and fetal organs. J Lipid Res (1997) 1.03
Cholesterol-mediated neurite outgrowth is differently regulated between cortical and hippocampal neurons. J Biol Chem (2005) 1.02
Therapeutics for childhood neurofibromatosis type 1 and type 2. Curr Treat Options Neurol (2011) 0.97
Role of MeCP2, DNA methylation, and HDACs in regulating synapse function. J Neurodev Disord (2011) 0.88
Statins and their influence on brain cholesterol. J Clin Lipidol (2011) 0.88
Squalene epoxidase and oxidosqualene lanosterol-cyclase activities in cholesterogenic and non-cholesterogenic tissues. Biochim Biophys Acta (1977) 0.83
Analysis of the arabidopsis dry2/sqe1-5 mutant suggests a role for sterols in signaling. Plant Signal Behav (2009) 0.78
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Fibroblast growth factor 15 functions as an enterohepatic signal to regulate bile acid homeostasis. Cell Metab (2005) 9.14
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Target-enrichment strategies for next-generation sequencing. Nat Methods (2010) 8.78
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
A three-dimensional model of the yeast genome. Nature (2010) 7.01
A comprehensive classification system for lipids. J Lipid Res (2005) 6.52
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52
Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
LMSD: LIPID MAPS structure database. Nucleic Acids Res (2006) 6.21
Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol (2010) 6.07
Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat Med (2004) 5.59
A twist code determines the onset of osteoblast differentiation. Dev Cell (2004) 5.40
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Transplanted bone marrow regenerates liver by cell fusion. Nature (2003) 5.06
Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol (2012) 4.51
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
The beginning of the end for microarrays? Nat Methods (2008) 4.19
Lipidomics reveals a remarkable diversity of lipids in human plasma. J Lipid Res (2010) 4.14
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience (2013) 4.11
Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med (2012) 3.94
Clinical importance of the cytochromes P450. Lancet (2002) 3.77
AAV vector integration sites in mouse hepatocellular carcinoma. Science (2007) 3.73
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis. Nat Biotechnol (2009) 3.58
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A (2011) 3.54
Switch-like control of SREBP-2 transport triggered by small changes in ER cholesterol: a delicate balance. Cell Metab (2008) 3.33
Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal. J Lipid Res (2004) 3.30
Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med (2015) 3.30
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Glioblastoma cells require glutamate dehydrogenase to survive impairments of glucose metabolism or Akt signaling. Cancer Res (2009) 3.15
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Parallel, tag-directed assembly of locally derived short sequence reads. Nat Methods (2010) 3.05
Poxviruses deploy genomic accordions to adapt rapidly against host antiviral defenses. Cell (2012) 2.94
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci U S A (2004) 2.89
Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci U S A (2009) 2.88
Functional genetic analysis of mouse chromosome 11. Nature (2003) 2.87
Global survey of escape from X inactivation by RNA-sequencing in mouse. Genome Res (2010) 2.87
Digital genotyping and haplotyping with polymerase colonies. Proc Natl Acad Sci U S A (2003) 2.77
Targeted transgene insertion into human chromosomes by adeno-associated virus vectors. Nat Biotechnol (2002) 2.73
Fluorescent in situ sequencing on polymerase colonies. Anal Biochem (2003) 2.70
Loss of nuclear receptor SHP impairs but does not eliminate negative feedback regulation of bile acid synthesis. Dev Cell (2002) 2.68
The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line. Nature (2013) 2.65
Transcriptome-wide miR-155 binding map reveals widespread noncanonical microRNA targeting. Mol Cell (2012) 2.54
Foamy virus vector integration sites in normal human cells. Proc Natl Acad Sci U S A (2006) 2.52
Identification of foreign gene sequences by transcript filtering against the human genome. Nat Genet (2002) 2.52
Enzymatic reduction of oxysterols impairs LXR signaling in cultured cells and the livers of mice. Cell Metab (2007) 2.51
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50
Estimating the human mutation rate using autozygosity in a founder population. Nat Genet (2012) 2.44
Regulated accumulation of desmosterol integrates macrophage lipid metabolism and inflammatory responses. Cell (2012) 2.38
Cellular mechanisms regulating activity-dependent release of native brain-derived neurotrophic factor from hippocampal neurons. J Neurosci (2002) 2.33
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30
Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet (2002) 2.30
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res (2013) 2.29
Adeno-associated virus vectors integrate at chromosome breakage sites. Nat Genet (2004) 2.27
The million mutation project: a new approach to genetics in Caenorhabditis elegans. Genome Res (2013) 2.20
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet (2010) 2.19
A mouse macrophage lipidome. J Biol Chem (2010) 2.14
25-Hydroxycholesterol secreted by macrophages in response to Toll-like receptor activation suppresses immunoglobulin A production. Proc Natl Acad Sci U S A (2009) 2.14
Genome-scale identification of resistance functions in Pseudomonas aeruginosa using Tn-seq. MBio (2011) 2.13
A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell (2007) 2.12
Knockout of the cholesterol 24-hydroxylase gene in mice reveals a brain-specific mechanism of cholesterol turnover. J Biol Chem (2003) 2.11
Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster. Nat Genet (2011) 2.07
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions. Nat Biotechnol (2013) 2.05
Purification of nucleic acids by extraction with phenol:chloroform. CSH Protoc (2006) 2.04
Gene targeting in vivo by adeno-associated virus vectors. Nat Biotechnol (2006) 2.03
Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions. J Biol Chem (2004) 2.02
Engineering of human pluripotent stem cells by AAV-mediated gene targeting. Mol Ther (2010) 1.99
Genetic variations and treatments that affect the lifespan of the NPC1 mouse. J Lipid Res (2007) 1.99
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res (2011) 1.93
Methods for genomic partitioning. Annu Rev Genomics Hum Genet (2009) 1.93
De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase. J Biol Chem (2003) 1.89
Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid. J Lipid Res (2009) 1.87
Large-scale analysis of adeno-associated virus vector integration sites in normal human cells. J Virol (2005) 1.85
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85
Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. J Neurosci (2007) 1.85
Werner syndrome protein limits MYC-induced cellular senescence. Genes Dev (2003) 1.84
Cholic acid mediates negative feedback regulation of bile acid synthesis in mice. J Clin Invest (2002) 1.84
Control of cholesterol turnover in the mouse. J Biol Chem (2001) 1.78
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2008) 1.78
Brain cholesterol turnover required for geranylgeraniol production and learning in mice. Proc Natl Acad Sci U S A (2006) 1.77
Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science (2004) 1.75
Sterol intermediates from cholesterol biosynthetic pathway as liver X receptor ligands. J Biol Chem (2006) 1.72