Published in Clin Genet on August 07, 2014
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care. Otolaryngol Head Neck Surg (2015) 0.91
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. Eur Arch Otorhinolaryngol (2015) 0.88
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet (2016) 0.82
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss. PLoS One (2015) 0.82
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat (2016) 0.79
Aggregation of the protein TRIOBP-1 and its potential relevance to schizophrenia. PLoS One (2014) 0.78
A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. PLoS Genet (2016) 0.78
Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH. Neural Plast (2016) 0.75
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia. BMC Med Genet (2016) 0.75
Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene. Int J Mol Cell Med (2015) 0.75
NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness. Neural Plast (2016) 0.75
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population. Sci Rep (2017) 0.75
Epigenetic memory in induced pluripotent stem cells. Nature (2010) 14.31
Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet (1994) 10.14
Boron nitride substrates for high-quality graphene electronics. Nat Nanotechnol (2010) 9.72
Modular chemistry: secondary building units as a basis for the design of highly porous and robust metal-organic carboxylate frameworks. Acc Chem Res (2001) 9.19
Potent and selective stimulation of memory-phenotype CD8+ T cells in vivo by IL-15. Immunity (1998) 9.02
Regulatory element detection using correlation with expression. Nat Genet (2001) 8.92
Linkage group I: the simultaneous estimation of recombination and interference. Birth Defects Orig Artic Ser (1976) 8.63
Mutations in T-cell antigen receptor genes alpha and beta block thymocyte development at different stages. Nature (1992) 7.66
Control of memory formation through regulated expression of a CaMKII transgene. Science (1996) 7.56
Notch signalling controls pancreatic cell differentiation. Nature (1999) 7.18
Crystal structure of a T-cell receptor beta-chain complexed with a superantigen. Nature (1996) 7.11
Refined structure of alpha beta-tubulin at 3.5 A resolution. J Mol Biol (2001) 7.08
Therapeutic benefit of intravenous administration of bone marrow stromal cells after cerebral ischemia in rats. Stroke (2001) 6.61
Leptin-regulated endocannabinoids are involved in maintaining food intake. Nature (2001) 6.36
Mechanical unfolding intermediates in titin modules. Nature (1999) 6.12
Highly purified CD44+ prostate cancer cells from xenograft human tumors are enriched in tumorigenic and metastatic progenitor cells. Oncogene (2006) 5.86
New Ballard Score, expanded to include extremely premature infants. J Pediatr (1991) 5.82
Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand. Proc Natl Acad Sci U S A (1999) 5.78
Abbreviated regimens of zidovudine prophylaxis and perinatal transmission of the human immunodeficiency virus. N Engl J Med (1998) 5.65
From systemic T cell self-reactivity to organ-specific autoimmune disease via immunoglobulins. Immunity (1999) 5.38
The TAF(II)250 subunit of TFIID has histone acetyltransferase activity. Cell (1996) 5.20
Phosphatidylinositol 3-kinase activation is required for insulin stimulation of pp70 S6 kinase, DNA synthesis, and glucose transporter translocation. Mol Cell Biol (1994) 5.13
PmrA-PmrB-regulated genes necessary for 4-aminoarabinose lipid A modification and polymyxin resistance. Mol Microbiol (1998) 5.01
A major role for VCAM-1, but not ICAM-1, in early atherosclerosis. J Clin Invest (2001) 4.98
Targeting the E1 replication protein to the papillomavirus origin of replication by complex formation with the E2 transactivator. Science (1990) 4.92
Effect of isoniazid on the in vivo mycolic acid synthesis, cell growth, and viability of Mycobacterium tuberculosis. Antimicrob Agents Chemother (1972) 4.64
Intravenous administration of human umbilical cord blood reduces behavioral deficits after stroke in rats. Stroke (2001) 4.64
An rpsL cassette, janus, for gene replacement through negative selection in Streptococcus pneumoniae. Appl Environ Microbiol (2001) 4.59
Association of diabetes mellitus and chronic hepatitis C virus infection. Hepatology (1999) 4.59
Human marrow stromal cell therapy for stroke in rat: neurotrophins and functional recovery. Neurology (2002) 4.45
A dust-obscured massive maximum-starburst galaxy at a redshift of 6.34. Nature (2013) 4.43
A mouse model for spinal muscular atrophy. Nat Genet (2000) 4.37
Identification of a chlamydial protease-like activity factor responsible for the degradation of host transcription factors. J Exp Med (2001) 4.27
Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease. Nat Med (2000) 4.18
Neutralizing antibody responses in acute human immunodeficiency virus type 1 subtype C infection. J Virol (2007) 4.13
An integrated genomic analysis of lung cancer reveals loss of DUSP4 in EGFR-mutant tumors. Oncogene (2009) 4.10
Peptoids: a modular approach to drug discovery. Proc Natl Acad Sci U S A (1992) 4.08
Effect of mobile phone intervention for diabetes on glycaemic control: a meta-analysis. Diabet Med (2011) 4.04
Specific lipopolysaccharide found in cystic fibrosis airway Pseudomonas aeruginosa. Science (1999) 3.98
Mechanisms underlying endothelial dysfunction in diabetes mellitus. Circ Res (2001) 3.89
PDGF-C is a new protease-activated ligand for the PDGF alpha-receptor. Nat Cell Biol (2000) 3.81
Hippocampal morphometry in schizophrenia by high dimensional brain mapping. Proc Natl Acad Sci U S A (1998) 3.72
Patterns of vascular cell adhesion molecule-1 and intercellular adhesion molecule-1 expression in rabbit and mouse atherosclerotic lesions and at sites predisposed to lesion formation. Circ Res (1999) 3.69
The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones. Cell Mol Life Sci (2006) 3.62
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry (2009) 3.56
National character does not reflect mean personality trait levels in 49 cultures. Science (2005) 3.56
Is routine indwelling catheterisation of the bladder for caesarean section necessary? A systematic review. BJOG (2010) 3.54
Ballistic 2-d imaging through scattering walls using an ultrafast optical kerr gate. Science (1991) 3.53
In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains. Proc Natl Acad Sci U S A (1996) 3.53
TRANCE/RANKL knockout mice are protected from bone erosion in a serum transfer model of arthritis. Am J Pathol (2001) 3.53
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet (2004) 3.45
Carpal tunnel syndrome in Rochester, Minnesota, 1961 to 1980. Neurology (1988) 3.40
Oral ganciclovir for patients with cytomegalovirus retinitis treated with a ganciclovir implant. Roche Ganciclovir Study Group. N Engl J Med (1999) 3.38
Severe B cell hyperplasia and autoimmune disease in TALL-1 transgenic mice. Proc Natl Acad Sci U S A (2000) 3.37
Proton-pump inhibitors and risk of fractures: an update meta-analysis. Osteoporos Int (2016) 3.30
Preclinical detection of Alzheimer's disease: hippocampal shape and volume predict dementia onset in the elderly. Neuroimage (2005) 3.21
Crystal structure of constitutive endothelial nitric oxide synthase: a paradigm for pterin function involving a novel metal center. Cell (1998) 3.20
Building a dictionary for genomes: identification of presumptive regulatory sites by statistical analysis. Proc Natl Acad Sci U S A (2000) 3.18
Structure of translation factor eIF4E bound to m7GDP and interaction with 4E-binding protein. Nat Struct Biol (1997) 3.14
Hormone-dependent, CARM1-directed, arginine-specific methylation of histone H3 on a steroid-regulated promoter. Curr Biol (2001) 3.09
Metastasis stage, adjuvant treatment, and residual tumor are prognostic factors for medulloblastoma in children: conclusions from the Children's Cancer Group 921 randomized phase III study. J Clin Oncol (1999) 3.08
Projections of the medial and lateral prefrontal cortices to the amygdala: a Phaseolus vulgaris leucoagglutinin study in the rat. Neuroscience (1996) 3.01
Mechanical design of proteins studied by single-molecule force spectroscopy and protein engineering. Prog Biophys Mol Biol (2000) 3.00
Shortened telomeres in the expanded CD28-CD8+ cell subset in HIV disease implicate replicative senescence in HIV pathogenesis. AIDS (1996) 2.95
BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer. Cell (2000) 2.94
TMPRSS2-ERG fusion, a common genomic alteration in prostate cancer activates C-MYC and abrogates prostate epithelial differentiation. Oncogene (2008) 2.94
Crucial role of the interleukin 1 receptor family member T1/ST2 in T helper cell type 2-mediated lung mucosal immune responses. J Exp Med (1999) 2.92
Identification of coryneform bacterial isolates by ribosomal DNA sequence analysis. J Clin Microbiol (2000) 2.87
Therapeutic benefit of intracerebral transplantation of bone marrow stromal cells after cerebral ischemia in rats. J Neurol Sci (2001) 2.84
Pneumatosis intestinalis and portomesenteric venous gas in intestinal ischemia: correlation of CT findings with severity of ischemia and clinical outcome. AJR Am J Roentgenol (2001) 2.84
Efficacy and safety of adeno-associated viral vectors based on serotype 8 and 9 vs. lentiviral vectors for hemophilia B gene therapy. J Thromb Haemost (2006) 2.81
Validation of near-infrared spectroscopy in humans. J Appl Physiol (1985) (1994) 2.77
tRNA splicing. J Biol Chem (1998) 2.77
Elevated expression of axin2 and hnkd mRNA provides evidence that Wnt/beta -catenin signaling is activated in human colon tumors. Proc Natl Acad Sci U S A (2001) 2.77
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet (2004) 2.75
Current neurosurgical management and the impact of the extent of resection in the treatment of malignant gliomas of childhood: a report of the Children's Cancer Group trial no. CCG-945. J Neurosurg (1998) 2.75
Arrays of complementary oligonucleotides for analysing the hybridisation behaviour of nucleic acids. Nucleic Acids Res (1994) 2.75
Feasibility of a high-speed gamma-camera design using the high-yield-pileup-event-recovery method. J Nucl Med (2001) 2.69
BAFF binds to the tumor necrosis factor receptor-like molecule B cell maturation antigen and is important for maintaining the peripheral B cell population. J Exp Med (2000) 2.69
Ecological genomics of marine Roseobacters. Appl Environ Microbiol (2007) 2.68
Targeted disruption of the murine VCAM1 gene: essential role of VCAM-1 in chorioallantoic fusion and placentation. Genes Dev (1995) 2.61
An oncogenic role of sphingosine kinase. Curr Biol (2000) 2.59
Solution structure of BID, an intracellular amplifier of apoptotic signaling. Cell (1999) 2.58
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet (1999) 2.57
Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A (2001) 2.56
Tissue plasminogen activator (tPA) deficiency exacerbates cerebrovascular fibrin deposition and brain injury in a murine stroke model: studies in tPA-deficient mice and wild-type mice on a matched genetic background. Arterioscler Thromb Vasc Biol (1999) 2.56
Alteration of deposition pattern and pulmonary response as a result of improved dispersion of aspirated single-walled carbon nanotubes in a mouse model. Am J Physiol Lung Cell Mol Physiol (2007) 2.55
Spinal cord atrophy and disability in multiple sclerosis. A new reproducible and sensitive MRI method with potential to monitor disease progression. Brain (1996) 2.54
Fps1p controls the accumulation and release of the compatible solute glycerol in yeast osmoregulation. Mol Microbiol (1999) 2.52
LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons. Cell (1998) 2.50
Spinal cord injury in rat: treatment with bone marrow stromal cell transplantation. Neuroreport (2000) 2.49
Interactions of the 5-hydroxytryptamine 3 antagonist class of antiemetic drugs with human cardiac ion channels. J Pharmacol Exp Ther (2000) 2.47
Mch3, a novel human apoptotic cysteine protease highly related to CPP32. Cancer Res (1995) 2.47
Hybrid vectors based on adeno-associated virus serotypes 2 and 5 for muscle-directed gene transfer. J Virol (2001) 2.46
Nephrin mediates actin reorganization via phosphoinositide 3-kinase in podocytes. Kidney Int (2007) 2.44
DNA microarray-based identification of genes controlled by autoinducer 2-stimulated quorum sensing in Escherichia coli. J Bacteriol (2001) 2.40
Degradation of transcription factor RFX5 during the inhibition of both constitutive and interferon gamma-inducible major histocompatibility complex class I expression in chlamydia-infected cells. J Exp Med (2000) 2.40
Characterization of physical interactions of the putative transcriptional adaptor, ADA2, with acidic activation domains and TATA-binding protein. J Biol Chem (1995) 2.37
Clinical and genetic characteristics of type 2 diabetes with and without GAD antibodies. Diabetes (1999) 2.36