Published in Eur J Hum Genet on December 01, 2003
Meeting the governance challenges of next-generation biorepository research. Sci Transl Med (2010) 1.75
Communicating results in post-Belmont era biomonitoring studies: lessons from genetics and neuroimaging research. Environ Res (2014) 1.68
Banking together. A unified model of informed consent for biobanking. EMBO Rep (2008) 1.67
Genotype-phenotype databases: challenges and solutions for the post-genomic era. Nat Rev Genet (2009) 1.52
Developing a policy for paediatric biobanks: principles for good practice. Eur J Hum Genet (2012) 1.39
[Biobanking and Biomolecular Resources Research Infrastructure (BBMRI). Implications for pathology]. Pathologe (2008) 1.26
New phosphate langbeinites, K2MTi(PO4)3 (M = Er, Yb or Y), and an alternative description of the langbeinite framework. Acta Crystallogr B (2002) 1.24
A biobank management model applicable to biomedical research. BMC Med Ethics (2006) 1.19
Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers. Eur J Hum Genet (2009) 1.12
Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics: HLA-NET methodological recommendations. Int J Immunogenet (2012) 0.92
Qualitative study of knowledge and attitudes to biobanking among lay persons in Nigeria. BMC Med Ethics (2012) 0.91
We're not in it for the money-lay people's moral intuitions on commercial use of 'their' biobank. Med Health Care Philos (2013) 0.88
Attitudes regarding privacy of genomic information in personalized cancer therapy. J Am Med Inform Assoc (2014) 0.88
IT Infrastructure Components for Biobanking. Appl Clin Inform (2010) 0.86
Ethical and Legal Issues in Biobanking for Genomic Research in Nigeria. BEOnline (2012) 0.80
"You hoped we would sleep walk into accepting the collection of our data": controversies surrounding the UK care.data scheme and their wider relevance for biomedical research. Med Health Care Philos (2016) 0.79
Population biobanking in selected European countries and proposed model for a Polish national DNA bank. J Appl Genet (2012) 0.79
Ethical considerations in malaria research proposal review: empirical evidence from 114 proposals submitted to an Ethics Committee in Thailand. Malar J (2015) 0.78
Epstein-Barr virus-transformation of B-cell lines in ovarian cancer patients: feasibility of genomic storage for unlimited use. J Gynecol Oncol (2009) 0.78
Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project. Eur J Hum Genet (2015) 0.78
The policies of ethics committees in the management of biobanks used for research: an Italian survey. Eur J Hum Genet (2013) 0.78
Ethical and technical considerations for the creation of cell lines in the head & neck and tissue harvesting for research and drug development (Part II): ethical aspects of obtaining tissue specimens. Int Arch Med (2009) 0.77
Becoming partners, retaining autonomy: ethical considerations on the development of precision medicine. BMC Med Ethics (2016) 0.77
Public concerns regarding the storage and secondary uses of residual newborn bloodspots: an analysis of print media, legal cases, and public engagement activities. J Community Genet (2014) 0.76
Participation bias and its impact on the assembly of a genetic specimen repository for a myocardial infarction cohort. Mayo Clin Proc (2007) 0.76
Pharmacogenomics in heart failure: where are we now and how can we reach clinical application? Cardiol Rev (2014) 0.76
Modern Advances in Genetic Testing: Ethical Challenges and Training Implications for Current and Future Psychologists. Ethics Behav (2013) 0.75
REXIC Project: Retrospective Cross-Sectional Study of Documentation of Informed Consent for Research Biobanking in A Public Research and Teaching Hospital. J Public Health Res (2013) 0.75
23andMe: a new two-sided data-banking market model. BMC Med Ethics (2016) 0.75
Eliciting meta consent for future secondary research use of health data using a smartphone application - a proof of concept study in the Danish population. BMC Med Ethics (2017) 0.75
Understanding biological mechanisms underlying adverse birth outcomes in developing countries: protocol for a prospective cohort (AMANHI bio-banking) study. J Glob Health (2017) 0.75
Ninety-day oral toxicity studies on two genetically modified maize MON810 varieties in Wistar Han RCC rats (EU 7th Framework Programme project GRACE). Arch Toxicol (2014) 2.91
Prevalences of polyarteritis nodosa, microscopic polyangiitis, Wegener's granulomatosis, and Churg-Strauss syndrome in a French urban multiethnic population in 2000: a capture-recapture estimate. Arthritis Rheum (2004) 2.01
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat (2006) 1.93
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Population genetic screening programmes: principles, techniques, practices, and policies. Eur J Hum Genet (2003) 1.84
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71
Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children. Am J Respir Crit Care Med (2002) 1.68
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur J Hum Genet (2008) 1.63
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet (2011) 1.57
The EuroGentest clinical utility gene cards. Eur J Hum Genet (2010) 1.52
The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders. Dtsch Arztebl Int (2008) 1.49
Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1. J Community Genet (2010) 1.47
Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur J Hum Genet (2003) 1.45
Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet (2008) 1.45
Provision of genetic services in Europe: current practices and issues. Eur J Hum Genet (2003) 1.43
Community genetics. Its definition 2010. J Community Genet (2010) 1.42
Ontological phenotype standards for neurogenetics. Hum Mutat (2012) 1.35
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia. J Med Genet (2010) 1.26
Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat loci. Int J Legal Med (2010) 1.24
Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet (2011) 1.23
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. J Cyst Fibros (2007) 1.21
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol (2008) 1.20
The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. J Community Genet (2012) 1.19
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur J Hum Genet (2012) 1.18
Towards quality assurance and harmonization of genetic testing services in the European Union. Nat Biotechnol (2004) 1.17
Genetic admixture history of Eastern Indonesia as revealed by Y-chromosome and mitochondrial DNA analysis. Mol Biol Evol (2009) 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
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat (2005) 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
A longitudinal study of age-specific reproductive output and body condition among male rhesus macaques, Macaca mulatta. Naturwissenschaften (2003) 1.12
Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet J Rare Dis (2011) 1.11
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
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Eur J Hum Genet (2006) 1.07
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. Eur J Hum Genet (2011) 1.07
Genetic research on stored tissue samples from minors: a systematic review of the ethical literature. Am J Med Genet A (2009) 1.07
The journal of community genetics. J Community Genet (2010) 1.06
The OrphanAnaesthesia project. Eur J Anaesthesiol (2011) 1.06
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A (2008) 1.06
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
Putative human male germ cells from bone marrow stem cells. Soc Reprod Fertil Suppl (2007) 1.04
Patient compliance based on genetic medicine: a literature review. J Community Genet (2013) 1.04
Report of an international survey of molecular genetic testing laboratories. Community Genet (2007) 1.04
Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney. J Am Soc Nephrol (2007) 1.02
The role of biobanking in rare diseases: European consensus expert group report. Biopreserv Biobank (2009) 1.02
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord (2009) 1.01
Differential induction of human beta-defensin expression by periodontal commensals and pathogens in periodontal pocket epithelial cells. J Periodontol (2005) 1.00
What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet (2008) 0.99
The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions. J Cyst Fibros (2002) 0.99
Multiple sirehood in free-ranging twin rhesus macaques (Macaca mulatta). Am J Primatol (2002) 0.99
Rare diseases and now rare data? Nat Rev Genet (2013) 0.98
TGF-beta modulates beta-Catenin stability and signaling in mesenchymal proliferations. Exp Cell Res (2007) 0.98
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Hum Mutat (2002) 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
Male reproductive timing in Rhesus macaques is influenced by the 5HTTLPR promoter polymorphism of the serotonin transporter gene. Biol Reprod (2005) 0.91
The medical geneticist as expert in the transgenerational and developmental aspects of diseases. Eur J Hum Genet (2010) 0.91
On the testing load incurred by cascade genetic carrier screening for Mendelian disorders: a brief report. Genet Test (2007) 0.91
Points to consider in assessing and appraising predictive genetic tests. J Community Genet (2010) 0.91
A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Hum Mutat (2009) 0.90
CEMARA an information system for rare diseases. Stud Health Technol Inform (2010) 0.90
CFTR mutations and polymorphisms in male infertility. Int J Androl (2004) 0.90
Upregulation of Wilms' tumor gene 1 (WT1) in desmoid tumors. Int J Cancer (2005) 0.89
Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Genomics (2005) 0.89
Genetic education and nongenetic health professionals: educational providers and curricula in Europe. Genet Med (2005) 0.88
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. BMC Pediatr (2013) 0.88
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
Introduction. Eur J Hum Genet (2008) 0.87
Twin study on heritability of activity, attention, and impulsivity as assessed by objective measures. J Atten Disord (2006) 0.86
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
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
Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union. Genet Test Mol Biomarkers (2009) 0.85
Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression. Biochem Biophys Res Commun (2003) 0.84
How to distinguish genetically between an alleged father and his monozygotic twin: a thought experiment. Forensic Sci Int Genet (2011) 0.84
EuroGentest standing up to scrutiny--first year demonstrates good progress harmonizing community approaches. J Appl Genet (2006) 0.83
Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs. J Immunol Methods (2009) 0.83
Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome. Neuroradiology (2009) 0.83
Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome. J Mol Cell Cardiol (2006) 0.82
Belgian population data for 15 STR loci (AmpFlSTR SGM Plus and AmpFlSTR profiler PCR amplification kit). Forensic Sci Int (2004) 0.82
Genotype-based screening for hereditary hemochromatosis: II. Attitudes toward genetic testing and psychosocial impact--a report from a German pilot study. Genet Test (2005) 0.82
Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome. Eur J Hum Genet (2006) 0.82
Tuber-specific cphA expression to enhance cyanophycin production in potatoes. Plant Biotechnol J (2009) 0.82
The genetic message of a sudden, unexpected death due to thoracic aortic dissection. Forensic Sci Int (2009) 0.82
Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities. J Community Genet (2013) 0.81
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. Eur J Med Genet (2010) 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