Published in Blood on July 31, 2003
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci (2005) 2.21
Severe hemorrhage in children with newly diagnosed immune thrombocytopenic purpura. Blood (2008) 2.17
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01
The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. Br J Haematol (2005) 1.72
A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70
The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. AIDS (2004) 1.63
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. Blood (2009) 1.62
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. Nat Genet (2005) 1.59
Antiplatelet drug response status does not predict recurrent ischemic events in stable cardiovascular patients: results of the Antiplatelet Drug Resistances and Ischemic Events study. Circulation (2012) 1.57
One-step synthesis of stoichiometrically defined metal oxide nanoparticles at room temperature. Chemistry (2009) 1.55
Quality assurance practices in Europe: a survey of molecular genetic testing laboratories. Eur J Hum Genet (2012) 1.51
First evidence of a polygenic susceptibility to pain in a pediatric cohort. Anesth Analg (2012) 1.49
Fluvastatin increases the expression of adhesion molecules, monocyte chemoattractant protein-1 and tissue factor in HUVEC stimulated by patient IgG fractions containing antiphospholipid antibodies. Thromb Haemost (2005) 1.47
Red blood cell methylfolate and plasma homocysteine as risk factors for venous thromboembolism: a matched case-control study. Lancet (2002) 1.44
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme. Hum Mutat (2011) 1.43
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
A model for the harmonisation of test results of different quantitative D-dimer methods. Thromb Haemost (2006) 1.42
[Carotid stents: role of evidence-based medicine!]. Rev Med Suisse (2010) 1.40
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost (2006) 1.39
Approaches to quality management and accreditation in a genetic testing laboratory. Eur J Hum Genet (2010) 1.16
Congenital fibrinogen disorders: an update. Semin Thromb Hemost (2013) 1.13
Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias. Eur J Hum Genet (2008) 1.13
Supercritical fluid synthesis of magnetic hexagonal nanoplatelets of magnetite. J Am Chem Soc (2010) 1.07
A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. Hum Mol Genet (2013) 1.05
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production. J Allergy Clin Immunol (2012) 1.03
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. Am J Psychiatry (2006) 1.02
Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice. Mol Cell Proteomics (2010) 1.01
Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency. Fertil Steril (2008) 1.01
Measuring disease-specific quality of life in rare populations: a practical approach to cross-cultural translation. Health Qual Life Outcomes (2009) 1.01
Fibrinogen and the risk of thrombosis. Semin Thromb Hemost (2010) 1.01
Minimizing perioperative blood loss and transfusions in children. Can J Anaesth (2006) 1.00
Autism: in search of susceptibility genes. Neuromolecular Med (2002) 1.00
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet (2005) 0.99
Regulation of fibrinogen production by microRNAs. Blood (2010) 0.99
Emotional and behavioural problems in children with autism spectrum disorder. J Autism Dev Disord (2013) 0.98
Inter-laboratory variability of anti-beta2-glycoprotein I measurement. A collaborative study in the frame of the European Forum on Antiphospholipid Antibodies Standardization Group. Thromb Haemost (2002) 0.97
Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome. Hum Brain Mapp (2007) 0.96
Clinical usefulness of D-dimer depending on clinical probability and cutoff value in outpatients with suspected pulmonary embolism. Arch Intern Med (2004) 0.96
A new methodology for studying nanoparticle interactions in biological systems: dispersing titania in biocompatible media using chemical stabilisers. Nanoscale (2011) 0.96
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events. Am J Med Genet A (2008) 0.96
Induction of TLR2 expression by inflammatory stimuli is required for endothelial cell responses to lipopeptides. Mol Immunol (2008) 0.95
Fibrinogen gene regulation. Thromb Haemost (2012) 0.95
NFkappaB is an essential intermediate in the activation of endothelial cells by anti-beta(2)-glycoprotein 1 antibodies. Thromb Haemost (2002) 0.94
The role of TLR2 in the inflammatory activation of mouse fibroblasts by human antiphospholipid antibodies. Blood (2006) 0.93
Developmental expression and organisation of fibrinogen genes in the zebrafish. Thromb Haemost (2011) 0.93
Congenital fibrinogen disorders. Semin Thromb Hemost (2009) 0.93
Single crystalline Ge(1-x)Mn(x) nanowires as building blocks for nanoelectronics. Nano Lett (2009) 0.93
Fatigue in adult patients with primary immune thrombocytopenia. Eur J Haematol (2011) 0.93
Association between lipoprotein lipase (LPL) gene and blood lipids: a common variant for a common trait? Genet Epidemiol (2003) 0.92
Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon. Eur J Med Genet (2011) 0.92
Inherent control of growth, morphology, and defect formation in germanium nanowires. Nano Lett (2012) 0.92
Massive transfusion and coagulopathy: pathophysiology and implications for clinical management. Can J Anaesth (2006) 0.92
Evidence for ASD recurrence rates and reproductive stoppage from large UK ASD research family databases. Autism Res (2014) 0.91
Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient. Thromb Haemost (2006) 0.91
Toll-like receptor 2 mediates the activation of human monocytes and endothelial cells by antiphospholipid antibodies. Blood (2011) 0.90
Cyclical "flipping" of morphology in block copolymer thin films. ACS Nano (2011) 0.89
"In situ" hard mask materials: a new methodology for creation of vertical silicon nanopillar and nanowire arrays. Nanoscale (2012) 0.89
Three dimensional architectures of ultra-high density semiconducting nanowires deposited on chip. J Am Chem Soc (2003) 0.89
Feeding difficulties in children with cerebral palsy. Arch Dis Child Educ Pract Ed (2012) 0.88
Large scale monodisperse hexagonal arrays of superparamagnetic iron oxides nanodots: a facile block copolymer inclusion method. Adv Mater (2012) 0.88
Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency. Blood (2007) 0.88
Preparation of oriented mesoporous carbon nano-filaments within the pores of anodic alumina membranes. J Am Chem Soc (2006) 0.88
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). Blood (2002) 0.88
Presence of autoantibodies to apolipoprotein A-1 in patients with acute coronary syndrome further links autoimmunity to cardiovascular disease. J Autoimmun (2004) 0.88
Prolonged treatment of massive postpartum haemorrhage with recombinant factor VIIa: case report and review of the literature. BJOG (2004) 0.87
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. Hum Mutat (2007) 0.87
Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J Pediatr (2002) 0.87
Factor deficiencies in pregnancy. Hematol Oncol Clin North Am (2011) 0.86
Physical activity may modulate effects of ApoE genotype on lipid profile. Arterioscler Thromb Vasc Biol (2002) 0.86
Provision and quality assurance of preimplantation genetic diagnosis in Europe. Eur J Hum Genet (2007) 0.85
Technical aspects in laboratory testing for antiphospholipid antibodies: is standardization an impossible dream? Semin Thromb Hemost (2008) 0.85
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. Brain Dev (2006) 0.84
A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder. Dev Med Child Neurol (2010) 0.84
Large pore diameter MCM-41 and its application for lead removal from aqueous media. J Hazard Mater (2010) 0.84
Self-assembled templates for the generation of arrays of 1-dimensional nanostructures: from molecules to devices. J Colloid Interface Sci (2010) 0.84
Purpura fulminans in a child as a complication of chickenpox infection. Dermatology (2004) 0.84
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. Blood (2014) 0.83
Seedless growth of sub-10 nm germanium nanowires. J Am Chem Soc (2010) 0.83
A positron annihilation spectroscopic investigation of europium-doped cerium oxide nanoparticles. Nanoscale (2013) 0.83
Receptors involved in cell activation by antiphospholipid antibodies. Thromb Res (2013) 0.82
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. Am J Med Genet A (2008) 0.82
Agreement of a new whole-blood PT/INR test using capillary samples with plasma INR determinations. Thromb Res (2005) 0.82
Surface-directed dewetting of a block copolymer for fabricating highly uniform nanostructured microdroplets and concentric nanorings. ACS Nano (2011) 0.82
Inflammatory and prothrombotic states in obese children of European descent. Obesity (Silver Spring) (2012) 0.82
Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. Eur J Haematol (2009) 0.81
Initiation of prenatal genetic diagnosis of sickle cell anaemia in Cameroon (sub-Saharan Africa). Prenat Diagn (2011) 0.81