Published in Eur J Hum Genet on September 01, 2010
The EuroGentest Clinical Utility Gene Cards continued. Eur J Hum Genet (2013) 0.97
Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most? Eur J Hum Genet (2013) 0.95
The promises of genomic screening: building a governance infrastructure. Special issue: genetics and democracy. J Community Genet (2011) 0.92
The challenge of implementing genetic tests with clinical utility while avoiding unsound applications. J Community Genet (2012) 0.89
The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels. Eur J Hum Genet (2014) 0.87
Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments. Eur J Hum Genet (2013) 0.86
Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies. Genet Mol Biol (2015) 0.75
Genetic test evaluation: information needs of clinicians, policy makers, and the public. Am J Epidemiol (2002) 3.23
EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genet (2008) 1.63
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71
Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective. Eur J Hum Genet (2003) 1.69
Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children. Am J Respir Crit Care Med (2002) 1.68
Community genetics. Its definition 2010. J Community Genet (2010) 1.42
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia. J Med Genet (2010) 1.26
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. J Cyst Fibros (2007) 1.21
The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. J Community Genet (2012) 1.19
Towards quality assurance and harmonization of genetic testing services in the European Union. Nat Biotechnol (2004) 1.17
Novel synthetic, salt-resistant analogs of human beta-defensins 1 and 3 endowed with enhanced antimicrobial activity. Antimicrob Agents Chemother (2010) 1.14
The return of individual research findings in paediatric genetic research. J Med Ethics (2010) 1.13
Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers. Eur J Hum Genet (2009) 1.12
Scope of definitions of genetic testing: evidence from a EuroGentest survey. J Community Genet (2010) 1.11
Definitions of genetic testing in European legal documents. J Community Genet (2012) 1.10
Children, biobanks and the scope of parental consent. Eur J Hum Genet (2011) 1.10
Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros (2010) 1.08
Genetic research on stored tissue samples from minors: a systematic review of the ethical literature. Am J Med Genet A (2009) 1.07
Transcription factor Zic2 inhibits Wnt/β-catenin protein signaling. J Biol Chem (2011) 1.05
The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum Genet (2006) 1.05
Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney. J Am Soc Nephrol (2007) 1.02
Differential induction of human beta-defensin expression by periodontal commensals and pathogens in periodontal pocket epithelial cells. J Periodontol (2005) 1.00
The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions. J Cyst Fibros (2002) 0.99
TGF-beta modulates beta-Catenin stability and signaling in mesenchymal proliferations. Exp Cell Res (2007) 0.98
The EuroGentest Clinical Utility Gene Cards continued. Eur J Hum Genet (2013) 0.97
Genomic copy number determines functional expression of {beta}-defensin 2 in airway epithelial cells and associates with chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2010) 0.97
Diversity at eight polymorphic Alu insertion loci in Chinese populations shows evidence for European admixture in an ethnic minority population from northwest China. Hum Biol (2002) 0.95
Risks, benefits, solidarity: a framework for the participation of children in genetic biobank research. J Pediatr (2011) 0.93
The medical geneticist as expert in the transgenerational and developmental aspects of diseases. Eur J Hum Genet (2010) 0.91
CFTR mutations and polymorphisms in male infertility. Int J Androl (2004) 0.90
Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Genomics (2005) 0.89
Upregulation of Wilms' tumor gene 1 (WT1) in desmoid tumors. Int J Cancer (2005) 0.89
ZIC1 gene expression is controlled by DNA and histone methylation in mesenchymal proliferations. FEBS Lett (2007) 0.88
Beta-catenin overexpression in Dupuytren's disease is unrelated to disease recurrence. Clin Orthop Relat Res (2008) 0.87
Adhesion of Porphyromonas gingivalis serotypes to pocket epithelium. J Periodontol (2003) 0.87
Chimeric beta-defensin analogs, including the novel 3NI analog, display salt-resistant antimicrobial activity and lack toxicity in human epithelial cell lines. Antimicrob Agents Chemother (2013) 0.85
Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression. Biochem Biophys Res Commun (2003) 0.84
Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs. J Immunol Methods (2009) 0.83
EuroGentest standing up to scrutiny--first year demonstrates good progress harmonizing community approaches. J Appl Genet (2006) 0.83
Belgian population data for 15 STR loci (AmpFlSTR SGM Plus and AmpFlSTR profiler PCR amplification kit). Forensic Sci Int (2004) 0.82
Identification of IGFBP-6 as a significantly downregulated gene by beta-catenin in desmoid tumors. Oncogene (2004) 0.81
Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel. FEBS Lett (2005) 0.81
Immunohistochemical evidence for Zic1 coexpression with beta-catenin in the myofibroblast of Dupuytren disease. Scand J Plast Reconstr Surg Hand Surg (2009) 0.81
A fair share for the orphans: ethical guidelines for a fair distribution of resources within the bounds of the 10-year-old European Orphan Drug Regulation. J Med Ethics (2011) 0.80
Identification and sequence analysis of discordant phenotypes between AmpFlSTR SGM Plus and PowerPlex 16. Int J Legal Med (2007) 0.80
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD). Eur J Hum Genet (2002) 0.78
Allele frequency data for 19 short tandem repeats (PowerPlex 16 and FFFl) in a Belgian population sample. J Forensic Sci (2006) 0.78
The human alphaE-catenin gene CTNNA1: mutational analysis and rare occurrence of a truncated splice variant. Biochim Biophys Acta (2002) 0.78
Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis. J Hepatol (2008) 0.77
The use of diagnostic collections of DNA for research: interviews at the eight Belgian centers for human genetics. Eur J Med Genet (2010) 0.77
Y-chromosomal STR haplotypes in a Belgian population sample and identification of a micro-variant with a flanking site mutation at DYS19. Forensic Sci Int (2005) 0.76
Epigenetics: a major cause of variations on the same theme. J Cell Mol Med (2006) 0.75
Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet (2011) 0.75
Can (should) molecular diagnostic labs improve the quality of their services? Eur J Hum Genet (2012) 0.75
The use of cells from cystic fibrosis patients in research. A model consent form. J Cyst Fibros (2004) 0.75
Cystic fibrosis. Methods Mol Med (2004) 0.75