Published in Am J Hum Genet on June 17, 2010
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11
Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. PLoS Genet (2013) 1.68
Apoptosis in acquired and genetic hearing impairment: the programmed death of the hair cell. Hear Res (2011) 1.23
High-throughput sequencing to decipher the genetic heterogeneity of deafness. Genome Biol (2012) 1.07
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. Eur J Hum Genet (2011) 1.03
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. Am J Hum Genet (2011) 0.94
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus. Hum Mol Genet (2015) 0.90
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. Eur J Hum Genet (2013) 0.89
The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways. Front Cell Neurosci (2015) 0.86
Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. PLoS One (2014) 0.86
Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment. Chin Med J (Engl) (2015) 0.81
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med (2015) 0.80
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform. Hum Mutat (2016) 0.79
Genetics of auditory mechano-electrical transduction. Pflugers Arch (2014) 0.79
The intracellular fate of zonula occludens 2 is regulated by the phosphorylation of SR repeats and the phosphorylation/O-GlcNAcylation of S257. Mol Biol Cell (2013) 0.78
Progressive Hearing Loss in Mice Carrying a Mutation in Usp53. J Neurosci (2015) 0.78
Beyond cell-cell adhesion: Emerging roles of the tight junction scaffold ZO-2. Tissue Barriers (2013) 0.77
A "Tric" to tighten cell-cell junctions in the cochlea for hearing. J Clin Invest (2013) 0.77
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. PLoS One (2015) 0.76
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia. Mutat Res (2015) 0.76
Exploration and detection of potential regulatory variants in refractive error GWAS. Sci Rep (2016) 0.75
An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs. Canine Genet Epidemiol (2014) 0.75
Mutations in TJP2, encoding zona occludens 2, and liver disease. Tissue Barriers (2015) 0.75
ZO-2 silencing induces renal hypertrophy through a cell cycle mechanism and the activation of YAP and the mTOR pathway. Mol Biol Cell (2016) 0.75
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol (2002) 82.19
Recent segmental duplications in the human genome. Science (2002) 21.30
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
The BCL-2 family reunion. Mol Cell (2010) 7.32
Glycogen synthase kinase-3 regulates mitochondrial outer membrane permeabilization and apoptosis by destabilization of MCL-1. Mol Cell (2006) 7.18
To be, or not to be: NF-kappaB is the answer--role of Rel/NF-kappaB in the regulation of apoptosis. Oncogene (2003) 3.37
The paradoxical pro- and anti-apoptotic actions of GSK3 in the intrinsic and extrinsic apoptosis signaling pathways. Prog Neurobiol (2006) 3.17
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet (2002) 3.10
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell (2001) 2.90
Activation of glycogen synthase kinase 3beta disrupts the binding of hexokinase II to mitochondria by phosphorylating voltage-dependent anion channel and potentiates chemotherapy-induced cytotoxicity. Cancer Res (2005) 2.64
K+ cycling and the endocochlear potential. Hear Res (2002) 2.41
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet (2003) 2.36
Age-related hearing loss in C57BL/6J mice is mediated by Bak-dependent mitochondrial apoptosis. Proc Natl Acad Sci U S A (2009) 2.33
Hearing loss: mechanisms revealed by genetics and cell biology. Annu Rev Genet (2009) 2.30
Mitochondrial cell death effectors. Curr Opin Cell Biol (2009) 2.29
Glycogen synthase kinase-3beta phosphorylates Bax and promotes its mitochondrial localization during neuronal apoptosis. J Neurosci (2004) 2.20
Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet (2006) 2.05
Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function. J Neurosci (2004) 1.86
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet (2003) 1.85
Tight junctions and the regulation of gene expression. Biochim Biophys Acta (2008) 1.83
Glycogen synthase kinase 3 (GSK3) in the heart: a point of integration in hypertrophic signalling and a therapeutic target? A critical analysis. Br J Pharmacol (2008) 1.67
Mechanisms of hair cell death and protection. Curr Opin Otolaryngol Head Neck Surg (2005) 1.65
Epithelial tight junctions, gene expression and nucleo-junctional interplay. J Cell Sci (2007) 1.46
Distinct subdomain organization and molecular composition of a tight junction with adherens junction features. J Cell Sci (2006) 1.45
Lithium blocks the c-Jun stress response and protects neurons via its action on glycogen synthase kinase 3. Mol Cell Biol (2003) 1.41
Channel-like functions of the 18-kDa translocator protein (TSPO): regulation of apoptosis and steroidogenesis as part of the host-defense response. Curr Pharm Des (2007) 1.36
A human chromosome 9-specific alphoid DNA repeat spatially resolvable from satellite 3 DNA by fluorescent in situ hybridization. Genomics (1991) 1.27
The tight junction protein ZO-2 localizes to the nucleus and interacts with the heterogeneous nuclear ribonucleoprotein scaffold attachment factor-B. J Biol Chem (2002) 1.26
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet (2008) 1.21
Apoptosis-related genes change their expression with age and hearing loss in the mouse cochlea. Apoptosis (2008) 1.21
Age-related hearing loss in CD/1 mice is associated to ROS formation and HIF target proteins up-regulation in the cochlea. Exp Gerontol (2006) 1.16
Tight junctions: molecular structure meets function. Ann N Y Acad Sci (2009) 1.11
Zona occludens-2 inhibits cyclin D1 expression and cell proliferation and exhibits changes in localization along the cell cycle. Mol Biol Cell (2008) 1.09
Dexamethasone protects auditory hair cells against TNFalpha-initiated apoptosis via activation of PI3K/Akt and NFkappaB signaling. Hear Res (2009) 1.07
Differential expression of apoptosis-related genes in the cochlea of noise-exposed rats. Neuroscience (2009) 1.06
Activation of cell death pathways in the inner ear of the aging CBA/J mouse. Hear Res (2009) 1.03
Development and regeneration of the inner ear. Ann N Y Acad Sci (2009) 0.94
Selective GSK-3beta inhibitors attenuate the cisplatin-induced cytotoxicity of auditory cells. Hear Res (2009) 0.93
Dexamethasone-induced apoptosis and up-regulation of Bim is dependent on glycogen synthase kinase-3. Leuk Res (2009) 0.90
Different regulation of connexin26 and ZO-1 in cochleas of developing rats and of guinea pigs with endolymphatic hydrops. J Histochem Cytochem (2001) 0.81
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
A global reference for human genetic variation. Nature (2015) 12.85
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Genetic heterogeneity in human disease. Cell (2010) 10.67
Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res (2003) 7.86
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42
Modelling schizophrenia using human induced pluripotent stem cells. Nature (2011) 7.41
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet (2008) 7.13
Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Completing the map of human genetic variation. Nature (2007) 4.38
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell (2012) 4.03
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99
A public gene trap resource for mouse functional genomics. Nat Genet (2004) 3.96
The UK10K project identifies rare variants in health and disease. Nature (2015) 3.89
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64
Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51
A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A (2007) 3.47
Ten genes for inherited breast cancer. Cancer Cell (2007) 3.45
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25
High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron (2011) 3.08
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58
Promoting Arab and Israeli cooperation: peacebuilding through health initiatives. Lancet (2005) 2.48
A high-resolution enhancer atlas of the developing telencephalon. Cell (2013) 2.34
Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet (2012) 2.33
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet (2002) 2.31
Hearing loss: mechanisms revealed by genetics and cell biology. Annu Rev Genet (2009) 2.30
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol (2008) 2.29
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17
Fine tuning of craniofacial morphology by distant-acting enhancers. Science (2013) 2.16
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11
Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Nat Genet (2002) 2.00
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet (2002) 1.90
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89
A calibrated human Y-chromosomal phylogeny based on resequencing. Genome Res (2012) 1.83