Published in Trends Mol Med on May 01, 2002
Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40
The C-terminus of connexin43 adopts different conformations in the Golgi and gap junction as detected with structure-specific antibodies. Biochem J (2007) 1.38
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A (2006) 1.28
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models. Brain Res (2009) 1.20
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. Hum Genet (2004) 1.17
Cell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing loss. Neurosci Lett (2012) 1.00
A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. Am J Pathol (2006) 0.98
Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. Proc Natl Acad Sci U S A (2006) 0.91
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. J Med Genet (2006) 0.90
Novel mutations in GJA1 cause oculodentodigital syndrome. J Dent Res (2008) 0.87
Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling. Cell Tissue Res (2014) 0.80
Predicting candidate genes for human deafness disorders: a bioinformatics approach. BMC Genomics (2006) 0.79
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. Eur Arch Otorhinolaryngol (2014) 0.75
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Global variation in copy number in the human genome. Nature (2006) 57.50
International network of cancer genome projects. Nature (2010) 20.35
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature (2011) 13.18
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
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Expansion of the BioCyc collection of pathway/genome databases to 160 genomes. Nucleic Acids Res (2005) 7.13
Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet (2011) 6.43
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol (2003) 4.32
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet (2007) 3.98
SNPassoc: an R package to perform whole genome association studies. Bioinformatics (2007) 3.52
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
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia. Biol Psychiatry (2007) 2.55
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol (2013) 2.53
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Mol Cell Biol (2002) 2.51
Variants at APOE influence risk of deep and lobar intracerebral hemorrhage. Ann Neurol (2010) 2.31
Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin. FASEB J (2007) 2.30
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet (2003) 2.25
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. Biochem Biophys Res Commun (2006) 2.21
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. Hum Mol Genet (2003) 2.07
A myriad of miRNA variants in control and Huntington's disease brain regions detected by massively parallel sequencing. Nucleic Acids Res (2010) 1.99
Origin of primate orphan genes: a comparative genomics approach. Mol Biol Evol (2008) 1.95
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. Nat Genet (2012) 1.93
Maximizing association statistics over genetic models. Genet Epidemiol (2008) 1.93
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function. Hum Mol Genet (2011) 1.92
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90
SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells. Nucleic Acids Res (2009) 1.88
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol Genet Metab (2004) 1.81
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet (2006) 1.79
DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood. Am J Respir Crit Care Med (2012) 1.71
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder. Neuropsychopharmacology (2010) 1.56
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet (2002) 1.55
Human microRNAs miR-22, miR-138-2, miR-148a, and miR-488 are associated with panic disorder and regulate several anxiety candidate genes and related pathways. Biol Psychiatry (2010) 1.46
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet (2008) 1.45
The human early-life exposome (HELIX): project rationale and design. Environ Health Perspect (2014) 1.44
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet (2002) 1.42
DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly. J Cell Sci (2003) 1.36
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life. Biochem J (2003) 1.30
Structural and functional properties of genes involved in human cancer. BMC Genomics (2006) 1.29
Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol (2009) 1.26
Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system. Brain Res (2003) 1.25
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet (2002) 1.23
Evidence for the biogenesis of more than 1,000 novel human microRNAs. Genome Biol (2014) 1.23
Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. Hum Mol Genet (2004) 1.20
A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity. PLoS Genet (2012) 1.20
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med (Berl) (2001) 1.19
Aneuploidy: from a physiological mechanism of variance to Down syndrome. Physiol Rev (2009) 1.18
Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS). Environ Health Perspect (2009) 1.18
Differences in the evolutionary history of disease genes affected by dominant or recessive mutations. BMC Genomics (2006) 1.17
Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia. Hum Mol Genet (2010) 1.15
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet (2009) 1.15
Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. Am J Med Genet B Neuropsychiatr Genet (2009) 1.14
Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients. Ann Rheum Dis (2009) 1.13
Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations. Eur J Hum Genet (2005) 1.13
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Eur J Hum Genet (2012) 1.12
RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration. Hum Mol Genet (2007) 1.10
Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders. Hum Mutat (2009) 1.09
Murine segmental duplications are hot spots for chromosome and gene evolution. Genomics (2005) 1.07
A highly expressed miR-101 isomiR is a functional silencing small RNA. BMC Genomics (2013) 1.05
Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cells. BMC Mol Biol (2010) 1.05
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Hum Mutat (2005) 1.03
Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. J Psychiatr Res (2010) 1.02
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Hum Mutat (2008) 1.02
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol Genet Metab (2004) 1.01
Cancer: When catastrophe strikes a cell. Nature (2011) 1.01
LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex. Eur J Neurosci (2003) 1.01
Developmental analysis of Lingo-1/Lern1 protein expression in the mouse brain: interaction of its intracellular domain with Myt1l. Dev Neurobiol (2008) 1.01
Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition. PLoS One (2011) 0.99
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization. Hum Genet (2006) 0.99
Assessment of the neuropeptide S system in anxiety disorders. Biol Psychiatry (2010) 0.99
Accounting for uncertainty when assessing association between copy number and disease: a latent class model. BMC Bioinformatics (2009) 0.98
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility. BMC Genomics (2008) 0.97
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA). BMC Bioinformatics (2008) 0.97
Biological convergence of cancer signatures. PLoS One (2009) 0.97
Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects. Amino Acids (2011) 0.96
Gene expression signatures in breast cancer distinguish phenotype characteristics, histologic subtypes, and tumor invasiveness. Cancer (2010) 0.96
Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder. Biol Psychiatry (2008) 0.96
Are MYO1C and MYO1F associated with hearing loss? Biochim Biophys Acta (2008) 0.95
mir-11 limits the proapoptotic function of its host gene, dE2f1. Genes Dev (2011) 0.94
Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol (2010) 0.94
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations. Hum Mutat (2008) 0.93
Mapping of six somatic linker histone H1 variants in human breast cancer cells uncovers specific features of H1.2. Nucleic Acids Res (2014) 0.93
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res (2013) 0.92
Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. Biochem Biophys Res Commun (2006) 0.92
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. Hum Mol Genet (2007) 0.92