Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Review of literature: genes related to postaxial polydactyly. Front Pediatr (2015) 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

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

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

Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature (2002) 5.38

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19

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

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

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

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood (2002) 2.50

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22

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

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (2008) 2.03

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01

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

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70

A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70

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 role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. AIDS (2004) 1.63

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat (2004) 1.61

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 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

Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. Nat Genet (2005) 1.59

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet (2003) 1.59

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

One-step synthesis of stoichiometrically defined metal oxide nanoparticles at room temperature. Chemistry (2009) 1.55

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

Quality assurance practices in Europe: a survey of molecular genetic testing laboratories. Eur J Hum Genet (2012) 1.51

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50

First evidence of a polygenic susceptibility to pain in a pediatric cohort. Anesth Analg (2012) 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

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme. Hum Mutat (2011) 1.43

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. Am J Med Genet A (2008) 1.41

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

Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements. Proc Natl Acad Sci U S A (2007) 1.28