Published in Community Genet on January 01, 2006
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease. Cell (2008) 8.43
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet (2011) 5.58
Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation (2008) 5.20
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 identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Am J Hum Genet (2008) 3.95
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
A comprehensive evaluation of SNP genotype imputation. Hum Genet (2008) 3.18
Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One (2008) 3.09
Genome-wide association study of alcohol dependence. Arch Gen Psychiatry (2009) 3.08
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet (2010) 2.66
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet (2010) 2.61
Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study. PLoS One (2008) 2.37
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A (2008) 2.22
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet (2009) 1.91
Chromosome 7p11.2 (EGFR) variation influences glioma risk. Hum Mol Genet (2011) 1.83
Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. PLoS Genet (2009) 1.80
COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer. Br J Cancer (2009) 1.62
Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. Am J Hum Genet (2012) 1.61
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nat Genet (2011) 1.60
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
Systematic association mapping identifies NELL1 as a novel IBD disease gene. PLoS One (2007) 1.57
Rare deletions at the neurexin 3 locus in autism spectrum disorder. Am J Hum Genet (2011) 1.56
Genome-wide association study in essential tremor identifies three new loci. Brain (2016) 1.43
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor. Neurology (2012) 1.41
CEACAM1 regulates TIM-3-mediated tolerance and exhaustion. Nature (2014) 1.35
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nat Commun (2015) 1.32
A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda) (2012) 1.30
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet (2015) 1.20
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. Leukemia (2011) 1.15
High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet (2013) 1.11
Deciphering the 8q24.21 association for glioma. Hum Mol Genet (2013) 1.08
Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL. J Invest Dermatol (2011) 1.04
Association between the chromosome 9p21 locus and angiographic coronary artery disease burden: a collaborative meta-analysis. J Am Coll Cardiol (2013) 1.02
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. Am J Hum Genet (2015) 1.01
TFG, a target of chromosome translocations in lymphoma and soft tissue tumors, fuses to GPR128 in healthy individuals. Haematologica (2009) 1.01
HBEGF, SRA1, and IK: Three cosegregating genes as determinants of cardiomyopathy. Genome Res (2008) 1.00
Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany. BMC Gastroenterol (2006) 1.00
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. BMC Med Genet (2010) 1.00
A genotype resource for postmortem brain samples from the Autism Tissue Program. Autism Res (2011) 0.99
Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet (2011) 0.98
Transcriptome sequencing of mung bean (Vigna radiate L.) genes and the identification of EST-SSR markers. PLoS One (2015) 0.98
Swedish population substructure revealed by genome-wide single nucleotide polymorphism data. PLoS One (2011) 0.97
A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. PLoS Genet (2014) 0.96
Low penetrance susceptibility to glioma is caused by the TP53 variant rs78378222. Br J Cancer (2013) 0.96
Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. Nat Genet (2016) 0.95
Building the Partners HealthCare Biobank at Partners Personalized Medicine: Informed Consent, Return of Research Results, Recruitment Lessons and Operational Considerations. J Pers Med (2016) 0.94
Genome-wide association study identifies multiple susceptibility loci for glioma. Nat Commun (2015) 0.93
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J Neurodev Disord (2014) 0.92
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet (2011) 0.92
Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer. BMC Gastroenterol (2009) 0.91
SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. Hum Mol Genet (2014) 0.90
Genome-wide investigation of gene-environment interactions in colorectal cancer. Hum Genet (2012) 0.89
Allele-specific, age-dependent and BMI-associated DNA methylation of human MCHR1. PLoS One (2011) 0.89
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells. Nat Commun (2015) 0.88
Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster. Hum Mol Genet (2011) 0.88
Molecular convergence of neurodevelopmental disorders. Am J Hum Genet (2014) 0.88
Leveraging ethnic group incidence variation to investigate genetic susceptibility to glioma: a novel candidate SNP approach. Front Genet (2012) 0.88
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics (2014) 0.87
Copy number variation in patients with cervical artery dissection. Eur J Hum Genet (2012) 0.87
Genetic Imbalance in Patients with Cervical Artery Dissection. Curr Genomics (2017) 0.86
Clinically relevant copy number variations detected in cerebral palsy. Nat Commun (2015) 0.86
Searching for disease susceptibility variants in structured populations. Genomics (2008) 0.86
Genomic landscape of positive natural selection in Northern European populations. Eur J Hum Genet (2009) 0.86
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry (2013) 0.86
Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder. Mol Psychiatry (2012) 0.85
Identification of germline genomic copy number variation in familial pancreatic cancer. Hum Genet (2012) 0.85
Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart disease. Biomed Res Int (2014) 0.84
Psoriasis and cardiometabolic traits: modest association but distinct genetic architectures. J Invest Dermatol (2015) 0.83
Diagnosing fatty liver disease: a comparative evaluation of metabolic markers, phenotypes, genotypes and established biomarkers. PLoS One (2013) 0.82
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. J Neurodev Disord (2014) 0.82
Polymorphisms in the mitochondrial oxidative phosphorylation chain genes as prognostic markers for colorectal cancer. BMC Med Genet (2012) 0.82
Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes. Nat Commun (2014) 0.82
A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology. BMC Med Genet (2012) 0.81
Investigation of complement component C4 copy number variation in human longevity. PLoS One (2014) 0.80
Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies. Gastroenterology (2016) 0.80
Coenzyme Q10 serum concentration and redox status in European adults: influence of age, sex, and lipoprotein concentration. J Clin Biochem Nutr (2016) 0.80
Association study identifying polymorphisms in CD47 and other extracellular matrix pathway genes as putative prognostic markers for colorectal cancer. Int J Colorectal Dis (2012) 0.78
Copy Number Studies in Noisy Samples. Microarrays (Basel) (2013) 0.78
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Mol Autism (2014) 0.77
Association of TH01 with human longevity revisited. Eur J Hum Genet (2011) 0.77
Quantifying the heritability of glioma using genome-wide complex trait analysis. Sci Rep (2015) 0.77
Role of NOD2/CARD15 in coronary heart disease. BMC Genet (2007) 0.77
Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. BMC Med Genet (2011) 0.77
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation. Sci Adv (2016) 0.77
The role of linkage disequilibrium in case-only studies of gene-environment interactions. Hum Genet (2014) 0.76
A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Nat Commun (2016) 0.76
Bipolar disorder risk alleles in children with ADHD. J Neural Transm (Vienna) (2013) 0.76
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Sci Rep (2016) 0.76
Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci. Sci Rep (2017) 0.75
Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations. Sci Rep (2015) 0.75
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Nat Genet (2017) 0.75
The haplotype M2 of the ANXA5 gene is not associated with antitrophoblast antibodies. J Assist Reprod Genet (2013) 0.75
Coenzyme Q10 Status as a Determinant of Muscular Strength in Two Independent Cohorts. PLoS One (2016) 0.75
Securing the use of existing sample collections for future human genetic research. Eur J Hum Genet (2017) 0.75
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet (2006) 15.14
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol (2005) 10.16
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
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
XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease. Cell (2008) 8.43
Mucosal flora in inflammatory bowel disease. Gastroenterology (2002) 8.42
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet (2008) 6.97
Adalimumab for maintenance of clinical response and remission in patients with Crohn's disease: the CHARM trial. Gastroenterology (2006) 6.88
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Adalimumab for induction of clinical remission in moderately to severely active ulcerative colitis: results of a randomised controlled trial. Gut (2011) 6.08
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Natalizumab induction and maintenance therapy for Crohn's disease. N Engl J Med (2005) 5.36
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
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet (2008) 5.05
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
The NLR gene family: a standard nomenclature. Immunity (2008) 4.77
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
Ustekinumab induction and maintenance therapy in refractory Crohn's disease. N Engl J Med (2012) 4.41
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Comparison of scheduled and episodic treatment strategies of infliximab in Crohn's disease. Gastroenterology (2004) 4.26
Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet (2005) 4.23
The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology (2002) 4.20
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Certolizumab pegol for the treatment of Crohn's disease. N Engl J Med (2007) 4.07
Association of FOXO3A variation with human longevity confirmed in German centenarians. Proc Natl Acad Sci U S A (2009) 4.02
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet (2008) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Am J Hum Genet (2008) 3.95
Nod2 is essential for temporal development of intestinal microbial communities. Gut (2011) 3.69
Investigation of the fine structure of European populations with applications to disease association studies. Eur J Hum Genet (2008) 3.65
The clock gene Per2 influences the glutamatergic system and modulates alcohol consumption. Nat Med (2004) 3.63
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39
A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. Gastroenterology (2007) 3.37
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Genetic variation in DLG5 is associated with inflammatory bowel disease. Nat Genet (2004) 3.19
A comprehensive evaluation of SNP genotype imputation. Hum Genet (2008) 3.18
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One (2008) 3.09
Genome-wide association study of alcohol dependence. Arch Gen Psychiatry (2009) 3.08
NOD2-mediated dysbiosis predisposes mice to transmissible colitis and colorectal cancer. J Clin Invest (2013) 2.96
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
The London Position Statement of the World Congress of Gastroenterology on Biological Therapy for IBD with the European Crohn's and Colitis Organization: when to start, when to stop, which drug to choose, and how to predict response? Am J Gastroenterol (2010) 2.74
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet (2010) 2.66
TNF-alpha and IFN-gamma regulate the expression of the NOD2 (CARD15) gene in human intestinal epithelial cells. Gastroenterology (2003) 2.58
ACE2 links amino acid malnutrition to microbial ecology and intestinal inflammation. Nature (2012) 2.53
Twin study indicates loss of interaction between microbiota and mucosa of patients with ulcerative colitis. Gastroenterology (2011) 2.52
Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2 (Secretor) genotype. Proc Natl Acad Sci U S A (2011) 2.47
Detection of diverse bacterial signatures in atherosclerotic lesions of patients with coronary heart disease. Circulation (2006) 2.41
Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. Nat Genet (2004) 2.41
Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study. PLoS One (2008) 2.37
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35
Once-daily, high-concentration MMX mesalamine in active ulcerative colitis. Gastroenterology (2006) 2.34
Validation of treatment strategies for enterohaemorrhagic Escherichia coli O104:H4 induced haemolytic uraemic syndrome: case-control study. BMJ (2012) 2.32
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Sci Transl Med (2011) 2.29
Genetically determined height and coronary artery disease. N Engl J Med (2015) 2.24
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann Neurol (2009) 2.21
SNP-based analysis of genetic substructure in the German population. Hum Hered (2006) 2.21
A comparison of oligonucleotide and cDNA-based microarray systems. Physiol Genomics (2004) 2.21
Development of the Crohn's disease digestive damage score, the Lémann score. Inflamm Bowel Dis (2010) 2.20
Polymorphisms of the IL12B and IL23R genes are associated with psoriasis. J Invest Dermatol (2008) 2.20
Diagnostics of inflammatory bowel disease. Gastroenterology (2007) 2.17
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J Am Coll Cardiol (2010) 2.17
Toward the blood-borne miRNome of human diseases. Nat Methods (2011) 2.14
p38 mitogen-activated protein kinase is activated and linked to TNF-alpha signaling in inflammatory bowel disease. J Immunol (2002) 2.14
Prevalence of CARD15/NOD2 mutations in Caucasian healthy people. Am J Gastroenterol (2007) 2.14