Published in Nat Genet on September 23, 2002
Mapping determinants of human gene expression by regional and genome-wide association. Nature (2005) 17.24
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
Prioritizing GWAS results: A review of statistical methods and recommendations for their application. Am J Hum Genet (2010) 5.39
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet (2002) 2.49
Capturing the spectrum of interaction effects in genetic association studies by simulated evaporative cooling network analysis. PLoS Genet (2009) 1.91
Finding unique filter sets in PLATO: a precursor to efficient interaction analysis in GWAS data. Pac Symp Biocomput (2010) 1.64
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A (2009) 1.56
Hirschsprung-like disease is exacerbated by reduced de novo GMP synthesis. J Clin Invest (2013) 1.52
Alternative contingency table measures improve the power and detection of multifactor dimensionality reduction. BMC Bioinformatics (2008) 1.50
Enteric nervous system development: migration, differentiation, and disease. Am J Physiol Gastrointest Liver Physiol (2013) 1.46
Synthetic associations in the context of genome-wide association scan signals. Hum Mol Genet (2010) 1.36
From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions. Drug Metab Rev (2008) 1.35
Identification of differential gene pathways with principal component analysis. Bioinformatics (2009) 1.32
Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease. Gut (2003) 1.31
Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes. Proc Natl Acad Sci U S A (2006) 1.30
Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A (2003) 1.30
Genetic basis of Hirschsprung's disease. Pediatr Surg Int (2009) 1.25
Phosphotyrosine 1062 is critical for the in vivo activity of the Ret9 receptor tyrosine kinase isoform. Mol Cell Biol (2005) 1.23
The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Pediatr Surg Int (2006) 1.22
Building a brain in the gut: development of the enteric nervous system. Clin Genet (2012) 1.21
An ensemble learning approach jointly modeling main and interaction effects in genetic association studies. Genet Epidemiol (2008) 1.17
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17
The developmental etiology and pathogenesis of Hirschsprung disease. Transl Res (2013) 1.09
Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's disease. Neurogastroenterol Motil (2009) 1.07
Functional analysis of the endogenous retroviral promoter of the human endothelin B receptor gene. J Virol (2003) 1.04
High-order SNP combinations associated with complex diseases: efficient discovery, statistical power and functional interactions. PLoS One (2012) 1.00
Genetic interactions and modifier genes in Hirschsprung's disease. World J Gastroenterol (2011) 0.99
Human dopamine beta-hydroxylase (DBH) regulatory polymorphism that influences enzymatic activity, autonomic function, and blood pressure. J Hypertens (2010) 0.97
Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence. Proc Natl Acad Sci U S A (2005) 0.95
RET and NRG1 interplay in Hirschsprung disease. Hum Genet (2013) 0.94
Early progress in epigenetic regulation of endothelin pathway genes. Br J Pharmacol (2013) 0.93
Aebp2 as an epigenetic regulator for neural crest cells. PLoS One (2011) 0.92
Dissecting trait heterogeneity: a comparison of three clustering methods applied to genotypic data. BMC Bioinformatics (2006) 0.92
Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. J Pediatr Surg (2014) 0.91
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. Am J Hum Genet (2015) 0.90
Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis (2013) 0.90
Genetics of obsessive-compulsive disorder. Psychiatr Clin North Am (2010) 0.90
Total colonic aganglionosis and Hirschsprung's disease: a review. Pediatr Surg Int (2014) 0.89
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3. J Med Genet (2006) 0.88
Total colonic aganglionosis and Hirschsprung's disease: shades of the same or different? Pediatr Surg Int (2009) 0.86
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease. Pediatr Surg Int (2012) 0.85
Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients. PLoS One (2013) 0.84
Fine mapping of the 9q31 Hirschsprung's disease locus. Hum Genet (2010) 0.83
Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients. PLoS One (2012) 0.83
Cell death and the developing enteric nervous system. Neurochem Int (2012) 0.83
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. Orphanet J Rare Dis (2012) 0.81
Multiple endocrine neoplasias type 2B and RET proto-oncogene. Ital J Pediatr (2012) 0.80
QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations. PLoS One (2011) 0.80
Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease. Gut (2003) 0.79
Ibuprofen slows migration and inhibits bowel colonization by enteric nervous system precursors in zebrafish, chick and mouse. Dev Biol (2015) 0.78
A novel bidirectional interaction between endothelin-3 and retinoic acid in rat enteric nervous system precursors. PLoS One (2013) 0.78
2013 William Allan Award: My multifactorial journey. Am J Hum Genet (2014) 0.78
Vascular and neural stem cells in the gut: do they need each other? Histochem Cell Biol (2014) 0.78
Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players. Dev Biol (2016) 0.77
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. Cell (2016) 0.77
RET gene is a major risk factor for Hirschsprung's disease: a meta-analysis. Pediatr Surg Int (2015) 0.76
Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives. Pediatr Res (2016) 0.76
Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease. World J Gastroenterol (2003) 0.75
A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. PLoS One (2014) 0.75
Cloning and characterization of the human SH3BP2 promoter. Biochem Biophys Res Commun (2012) 0.75
Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia. PLoS One (2013) 0.75
PoCos: Population Covering Locus Sets for Risk Assessment in Complex Diseases. PLoS Comput Biol (2016) 0.75
Identification of genetic loci affecting the severity of symptoms of Hirschsprung disease in rats carrying Ednrbsl mutations by quantitative trait locus analysis. PLoS One (2015) 0.75
Neural crest requires Impdh2 for development of the enteric nervous system, great vessels, and craniofacial skeleton. Dev Biol (2015) 0.75
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res (2003) 14.79
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet (2004) 5.78
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med (2006) 5.28
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet (2008) 5.28
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A (2005) 4.64
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97
Genomic alterations in cultured human embryonic stem cells. Nat Genet (2005) 3.89
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet (2009) 3.80
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
Conservation of RET regulatory function from human to zebrafish without sequence similarity. Science (2006) 3.59
Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish. Nat Protoc (2006) 3.57
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci U S A (2008) 3.39
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Human embryonic stem cells have a unique epigenetic signature. Genome Res (2006) 2.89
A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens (2003) 2.76
Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A (2002) 2.70
Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation (2009) 2.55
The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res (2004) 2.54
Public stem cell banks: considerations of justice in stem cell research and therapy. Hastings Cent Rep (2004) 2.53
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet (2003) 2.51
Multiple genes for essential-hypertension susceptibility on chromosome 1q. Am J Hum Genet (2006) 2.34
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion. PLoS Genet (2005) 2.33
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b. Genome Res (2007) 2.27
Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish. Hum Hered (2007) 2.26
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes (2011) 2.09
A BDNF coding variant is associated with the NEO personality inventory domain neuroticism, a risk factor for depression. Neuropsychopharmacology (2002) 2.07
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet (2010) 1.91
Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arrays. Cancer Res (2006) 1.89
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet (2003) 1.85
Identification of disease causing loci using an array-based genotyping approach on pooled DNA. BMC Genomics (2005) 1.83
Mouse ES cell-derived cardiac precursor cells are multipotent and facilitate identification of novel cardiac genes. J Clin Invest (2008) 1.80
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum Mol Genet (2011) 1.77
A multilevel model to address batch effects in copy number estimation using SNP arrays. Biostatistics (2010) 1.76
Genomics of long-range regulatory elements. Annu Rev Genomics Hum Genet (2010) 1.75
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell (2013) 1.75
Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol (2010) 1.73
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet (2010) 1.72
Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns. Bioinformatics (2004) 1.72
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology (2006) 1.71
Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet (2003) 1.69
Haplotype and missing data inference in nuclear families. Genome Res (2004) 1.69
Targeted inhibition of tumor-specific glutaminase diminishes cell-autonomous tumorigenesis. J Clin Invest (2015) 1.67
Multiple loci are associated with white blood cell phenotypes. PLoS Genet (2011) 1.65
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci U S A (2011) 1.62
Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays. Genome Biol (2008) 1.61
Association of hypertension drug target genes with blood pressure and hypertension in 86,588 individuals. Hypertension (2011) 1.60
Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet (2008) 1.60
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet (2013) 1.57
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Am J Hum Genet (2013) 1.55
Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. Hum Mol Genet (2011) 1.54
Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics (2002) 1.53
Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab (2010) 1.52
Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet (2005) 1.48
Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet (2007) 1.47
Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program. Eur J Hum Genet (2008) 1.45
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet (2010) 1.43
Genomics in sudden cardiac death. Circ Res (2004) 1.42
Drug-sensitized zebrafish screen identifies multiple genes, including GINS3, as regulators of myocardial repolarization. Circulation (2009) 1.41
Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLoS Genet (2011) 1.38
Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes. Genome Res (2012) 1.35
Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A (2003) 1.30
Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet (2013) 1.27
A genome-wide scan for obesity in African-Americans. Diabetes (2002) 1.25
Positional identification of hypertension susceptibility genes on chromosome 2. Hypertension (2004) 1.25
Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet (2009) 1.24
Mendelian disorders and multifactorial traits: the big divide or one for all? Nat Rev Genet (2010) 1.24
Estimating genome-wide copy number using allele-specific mixture models. J Comput Biol (2008) 1.23
Positional identification of variants of Adamts16 linked to inherited hypertension. Hum Mol Genet (2009) 1.21
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci U S A (2009) 1.20
kmer-SVM: a web server for identifying predictive regulatory sequence features in genomic data sets. Nucleic Acids Res (2013) 1.20
Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS One (2009) 1.19
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17