Published in Hum Mol Genet on February 23, 2010
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53
The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet (2014) 1.16
Microdeletion and microduplication syndromes. J Histochem Cytochem (2012) 1.14
QGRS-Conserve: a computational method for discovering evolutionarily conserved G-quadruplex motifs. Hum Genomics (2014) 0.85
Comment on "genomic hypomethylation in the human germline associates with selective structural mutability in the human genome". PLoS Genet (2013) 0.84
A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability. Case Rep Genet (2014) 0.81
Concomitant downregulation of the imprinted genes DLK1 and MEG3 at 14q32.2 by epigenetic mechanisms in urothelial carcinoma. Clin Epigenetics (2014) 0.80
Trinucleotide repeats: triggers for genomic disorders? Genome Med (2010) 0.78
Molecular mining of alleles in water buffalo Bubalus bubalis and characterization of the TSPY1 and COL6A1 genes. PLoS One (2011) 0.76
Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies. G3 (Bethesda) (2016) 0.75
A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome. Mol Syndromol (2016) 0.75
Cyclic mismatch binding ligand CMBL4 binds to the 5'-T-3'/5'-GG-3' site by inducing the flipping out of thymine base. Nucleic Acids Res (2016) 0.75
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. Eur J Hum Genet (2017) 0.75
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Landscape of transcription in human cells. Nature (2012) 20.18
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
A whole-genome association study of major determinants for host control of HIV-1. Science (2007) 15.19
GENCODE: producing a reference annotation for ENCODE. Genome Biol (2006) 15.08
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63
Stem cell-related "self-renewal" signature and high epidermal growth factor receptor expression associated with resistance to concomitant chemoradiotherapy in glioblastoma. J Clin Oncol (2008) 6.41
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature (2002) 5.38
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet (2005) 4.79
Human chromosome 21 gene expression atlas in the mouse. Nature (2002) 4.36
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Genome Res (2007) 4.33
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet (2007) 3.98
Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat Rev Genet (2005) 3.97
The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci U S A (2007) 3.93
Tandem chimerism as a means to increase protein complexity in the human genome. Genome Res (2005) 3.89
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. Genome Res (2007) 3.82
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs). Science (2003) 3.77
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes. Proc Natl Acad Sci U S A (2003) 3.73
Common genetic variation and the control of HIV-1 in humans. PLoS Genet (2009) 3.68
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol (2012) 3.24
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet (2011) 3.10
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Validation of real-time methylation-specific PCR to determine O6-methylguanine-DNA methyltransferase gene promoter methylation in glioma. J Mol Diagn (2008) 2.71
Passive and active DNA methylation and the interplay with genetic variation in gene regulation. Elife (2013) 2.70
Structured RNAs in the ENCODE selected regions of the human genome. Genome Res (2007) 2.69
Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription. Science (2013) 2.66
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet (2007) 2.62
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. Genome Res (2004) 2.58
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proc Natl Acad Sci U S A (2005) 2.56
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A (2002) 2.21
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci (2005) 2.21
Gene duplication: a drive for phenotypic diversity and cause of human disease. Annu Rev Genomics Hum Genet (2007) 2.16
Genome-wide RNA polymerase II profiles and RNA accumulation reveal kinetics of transcription and associated epigenetic changes during diurnal cycles. PLoS Biol (2012) 2.12
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (2008) 2.03
Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites. Am J Hum Genet (2004) 1.97
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. Hum Mol Genet (2005) 1.96
Early history of mammals is elucidated with the ENCODE multiple species sequencing data. PLoS Genet (2007) 1.92
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86
Nineteen additional unpredicted transcripts from human chromosome 21. Genomics (2002) 1.80
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism. Nature (2010) 1.78
Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med (2011) 1.78
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. Genome Res (2004) 1.75
DNA methylation profiles of human active and inactive X chromosomes. Genome Res (2011) 1.68
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Res (2010) 1.67
Efficient targeted transcript discovery via array-based normalization of RACE libraries. Nat Methods (2008) 1.66
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Res (2014) 1.63
The human retinoblastoma gene is imprinted. PLoS Genet (2009) 1.63
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 1.61
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat (2004) 1.61
High-throughput genotyping of intermediate-size structural variation. Hum Mol Genet (2006) 1.61
Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. J Biol Chem (2005) 1.60
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet (2004) 1.60
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet (2002) 1.58
Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome. Genome Res (2013) 1.58
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Proc Natl Acad Sci U S A (2008) 1.54
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet (2008) 1.49
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet (2008) 1.45
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41
Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete. Hum Mol Genet (2009) 1.34
Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype. J Immunol (2009) 1.32
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet (2009) 1.32
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. EMBO Mol Med (2013) 1.30
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet (2010) 1.30
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Med Genet (2010) 1.30
Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements. Proc Natl Acad Sci U S A (2007) 1.28
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype. Eur J Hum Genet (2008) 1.27
Identifying protein-coding genes in genomic sequences. Genome Biol (2009) 1.26
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A (2006) 1.23
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1. PLoS Biol (2008) 1.22
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Hum Mutat (2008) 1.21
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3. Hum Mol Genet (2004) 1.21
Gene finding in the chicken genome. BMC Bioinformatics (2005) 1.20
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Hum Mol Genet (2009) 1.20
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis (2009) 1.20