Published in Genet Med on February 01, 2006
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis. J Mol Diagn (2016) 1.49
Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet (2007) 0.90
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn (2008) 0.84
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. J Mol Diagn (2007) 0.83
Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. J Mol Diagn (2007) 0.80
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols. Asian J Androl (2010) 0.78
Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies. Eur J Hum Genet (2010) 0.78
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science (2010) 9.61
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med (2004) 3.32
Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory. Genet Med (2004) 1.89
Assessing and managing risk when sharing aggregate genetic variant data. Nat Rev Genet (2011) 1.62
Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples. Genet Med (2002) 1.60
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Cystic fibrosis screening: lessons learned from the first 320,000 patients. Genet Med (2004) 1.48
Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results. Genet Med (2005) 1.44
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol Psychiatry (2011) 1.25
Differential regulation of the Let-7 family of microRNAs in CD4+ T cells alters IL-10 expression. J Immunol (2012) 1.23
Learning nonlinear multiregression networks based on evolutionary computation. IEEE Trans Syst Man Cybern B Cybern (2002) 1.15
A novel technique for stenting pulmonary artery and conduit bifurcation stenosis. Catheter Cardiovasc Interv (2011) 1.15
Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med (2003) 1.14
Higher detection rate of JAK2 mutation using plasma. Blood (2008) 1.09
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. Hum Genet (2005) 1.07
Identification of a novel toluene-degrading bacterium from the candidate phylum TM7, as determined by DNA stable isotope probing. Appl Environ Microbiol (2009) 1.07
Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory. Genet Med (2007) 1.06
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. Hum Genet (2005) 1.05
Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome. Genet Med (2007) 1.05
Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med (2011) 1.01
C3-symmetric peptide scaffolds are functional mimetics of trimeric CD40L. Nat Chem Biol (2005) 1.01
Fuzzified Choquet Integral with a Fuzzy-valued Integrand and its application on temperature prediction. IEEE Trans Syst Man Cybern B Cybern (2008) 1.00
Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion. J Mol Diagn (2009) 0.98
Gene sequencing in neonates and infants with the long QT syndrome. Genet Test (2005) 0.97
Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel. J Mol Diagn (2006) 0.95
Fluorescence in situ hybridization and K-ras analyses improve diagnostic yield of endoscopic ultrasound-guided fine-needle aspiration of solid pancreatic masses. Pancreas (2011) 0.95
Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory. Genet Med (2011) 0.94
Response patterns of cytokines/chemokines in two murine strains after irradiation. Cytokine (2012) 0.94
Mitigation effect of an FGF-2 peptide on acute gastrointestinal syndrome after high-dose ionizing radiation. Int J Radiat Oncol Biol Phys (2010) 0.93
A new nonlinear classifier with a penalized signed fuzzy measure using effective genetic algorithm. Pattern Recognit (2010) 0.91
Antioxidants reduce consequences of radiation exposure. Adv Exp Med Biol (2008) 0.91
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. Am J Med Genet A (2010) 0.89
Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet A (2011) 0.89
Sickle Cell Disease. N Engl J Med (2017) 0.88
The autopsy study of 553 cases of sudden cardiac death in Chinese adults. Heart Vessels (2013) 0.88
Small multivalent architectures mimicking homotrimers of the TNF superfamily member CD40L: delineating the relationship between structure and effector function. J Am Chem Soc (2007) 0.88
Genetic analysis of 15 STR loci of Chinese Uigur ethnic population. J Forensic Sci (2005) 0.88
Reduction of decoy receptor 3 enhances TRAIL-mediated apoptosis in pancreatic cancer. PLoS One (2013) 0.88
Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent. Genet Med (2005) 0.87
Novel aerobic benzene degrading microorganisms identified in three soils by stable isotope probing. Biodegradation (2010) 0.87
Cutting edge: small molecule CD40 ligand mimetics promote control of parasitemia and enhance T cells producing IFN-gamma during experimental Trypanosoma cruzi infection. J Immunol (2007) 0.86
Genetically characterized positive control cell lines derived from residual clinical blood samples. Clin Chem (2005) 0.86
Replication of murine mitochondrial DNA following irradiation. Adv Exp Med Biol (2009) 0.86
Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation. Am J Med Genet A (2005) 0.85
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. Pediatr Res (2010) 0.85
Effects of curcumin on levels of nitric oxide synthase and AQP-4 in a rat model of hypoxia-ischemic brain damage. Brain Res (2012) 0.85
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet (2004) 0.85
High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer. Clin Colorectal Cancer (2004) 0.85
Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T. Genet Med (2004) 0.84
Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting. Clin Chem (2004) 0.83
Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide. Mol Hum Reprod (2002) 0.83
Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations. Genet Med (2008) 0.83
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Genet Med (2006) 0.82
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod (2002) 0.82
Folate intake and the risk of neural tube defects: an estimation of dose-response. Epidemiology (2003) 0.82
Development of a web-based query tool for quality assurance of clinical molecular genetic test results. J Mol Diagn (2007) 0.82
Chromosomal anomalies among the offspring of women with gestational diabetes. Am J Epidemiol (2002) 0.82
A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. Eur J Med Genet (2007) 0.82
Controlled loading of building blocks into temporary self-assembled scaffolds for directed assembly of organic nanostructures. Langmuir (2008) 0.82
Involvement of p300 in constitutive and HIV-1 Tat-activated expression of glial fibrillary acidic protein in astrocytes. Glia (2010) 0.82
Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis. Fetal Diagn Ther (2006) 0.81
Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. J Mol Diagn (2007) 0.80
Curcumin inhibits apoptosis and brain edema induced by hypoxia-hypercapnia brain damage in rat models. Am J Med Sci (2015) 0.80
Expression of IL-13Ralpha2 in liver cancer cells and its effect on targeted therapy of liver cancer. J Cancer Res Clin Oncol (2009) 0.80
Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics (2010) 0.80
Triptolide triggers the apoptosis of pancreatic cancer cells via the downregulation of Decoy receptor 3 expression. J Cancer Res Clin Oncol (2012) 0.80
A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses. Fetal Diagn Ther (2007) 0.79
Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet Test Mol Biomarkers (2010) 0.79
Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. J Mol Diagn (2005) 0.79
B1 sequence-based real-time quantitative PCR: a sensitive method for direct measurement of mouse plasma DNA levels after gamma irradiation. Int J Radiat Oncol Biol Phys (2009) 0.79
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. Am J Med Genet A (2011) 0.79
Poly(I:C) induce bone marrow precursor cells into myeloid-derived suppressor cells. Mol Cell Biochem (2011) 0.78
Microbial community analysis in rice paddy soils irrigated by acid mine drainage contaminated water. Appl Microbiol Biotechnol (2014) 0.78
Simazine biodegradation and community structures of ammonia-oxidizing microorganisms in bioaugmented soil: impact of ammonia and nitrate nitrogen sources. Environ Sci Pollut Res Int (2013) 0.77
Stress impairs consolidation of recognition memory after blocking drug memory reconsolidation. Neurosci Lett (2011) 0.77
Y-STRs haplotypes of Chinese Mongol ethnic group using Y-PLEX 12. Forensic Sci Int (2005) 0.77
Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings. Pediatr Int (2010) 0.77
Photonic crystal fiber half-taper probe based refractometer. Opt Lett (2014) 0.77