Published in J Med Genet on October 04, 2010
Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet (2011) 1.50
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. Mol Syndromol (2015) 1.13
Discovery of variants unmasked by hemizygous deletions. Eur J Hum Genet (2012) 1.02
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med (2012) 0.90
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. J Med Genet (2011) 0.83
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. Eur J Hum Genet (2012) 0.82
Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches. J Obes (2012) 0.79
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. BMC Med Genet (2015) 0.75
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet (2008) 16.25
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
A common genetic variant is associated with adult and childhood obesity. Science (2006) 14.95
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med (2002) 6.94
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet (2005) 6.36
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature (2004) 5.95
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. PLoS Genet (2008) 5.23
Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation (2008) 5.20
New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet (2009) 5.12
A genome-wide perspective of genetic variation in human metabolism. Nat Genet (2009) 5.00
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet (2009) 4.97
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants. PLoS One (2007) 4.92
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet (2008) 4.67
Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease. Nat Genet (2009) 4.63
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet (2007) 4.54
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet (2011) 4.52
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet (2006) 4.49
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37