Published in Hum Mutat on April 01, 2003
Comparison of the accuracy of methods of computational haplotype inference using a large empirical dataset. BMC Genet (2004) 3.15
Ancient and recent positive selection transformed opioid cis-regulation in humans. PLoS Biol (2005) 2.37
The importance of phase information for human genomics. Nat Rev Genet (2011) 2.25
Differential expression profile of growth hormone/chorionic somatomammotropin genes in placenta of small- and large-for-gestational-age newborns. J Clin Endocrinol Metab (2010) 1.64
Genetic architecture of regulatory variation in Arabidopsis thaliana. Genome Res (2011) 1.32
Population genetic and phylogenetic evidence for positive selection on regulatory mutations at the factor VII locus in humans. Genetics (2004) 1.25
Shape-IT: new rapid and accurate algorithm for haplotype inference. BMC Bioinformatics (2008) 1.17
Composite effects of polymorphisms near multiple regulatory elements create a major-effect QTL. PLoS Genet (2011) 1.11
Are molecular haplotypes worth the time and expense? A cost-effective method for applying molecular haplotypes. PLoS Genet (2006) 1.09
Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease. Hum Genet (2007) 1.06
Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene. Hum Genomics (2010) 1.06
Genetic causes and treatment of isolated growth hormone deficiency-an update. Nat Rev Endocrinol (2010) 0.95
Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genes. Hum Mutat (2008) 0.90
The contribution of growth hormone to mammary neoplasia. J Mammary Gland Biol Neoplasia (2008) 0.90
Accurate haplotype inference for multiple linked single-nucleotide polymorphisms using sibship data. Genetics (2006) 0.83
Computation of haplotypes on SNPs subsets: advantage of the "global method". BMC Genet (2006) 0.83
ISHAPE: new rapid and accurate software for haplotyping. BMC Bioinformatics (2007) 0.82
Next-generation DNA sequencing-based assay for measuring allelic expression imbalance (AEI) of candidate neuropsychiatric disorder genes in human brain. BMC Genomics (2011) 0.82
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke. Hum Genet (2006) 0.81
Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population. Clin Endocrinol (Oxf) (2007) 0.80
Genetic and environmental correlations between bone phenotypes and anthropometric indices in Chinese. Osteoporos Int (2005) 0.78
Association between fetal growth restriction and polymorphisms at sites -1 and +3 of pituitary growth hormone: a case-control study. BMC Pregnancy Childbirth (2005) 0.78
A large-scale genome-wide linkage analysis to map loci linked to stature in Chinese population. J Clin Endocrinol Metab (2008) 0.76
How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene's Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter. Biomed Res Int (2015) 0.76
Candidate SNP markers of aggressiveness-related complications and comorbidities of genetic diseases are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters. BMC Genomics (2016) 0.75
Genetic Variant in ACVR2B Is Associated with Lean Mass. Med Sci Sports Exerc (2016) 0.75
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. Indian J Endocrinol Metab (2012) 0.75
Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters. Front Aging Neurosci (2017) 0.75
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet (2006) 15.14
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
The Human Gene Mutation Database: 2008 update. Genome Med (2009) 11.72
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet (2014) 6.69
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
Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet (2007) 4.62
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics (2009) 4.31
Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet (2005) 4.23
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet (2008) 3.99
On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Am J Hum Genet (2008) 3.95
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat (2012) 3.60
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Res (2008) 3.33
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet (2012) 3.30
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics (2009) 3.24
A comprehensive evaluation of SNP genotype imputation. Hum Genet (2008) 3.18
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93
Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet (2005) 2.82
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat (2005) 2.55
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat (2003) 2.55
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science (2008) 2.51
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Nat Biotechnol (2011) 2.37
The yak genome and adaptation to life at high altitude. Nat Genet (2012) 2.34
SNP-based analysis of genetic substructure in the German population. Hum Hered (2006) 2.21
Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability. Int J Legal Med (2009) 2.20
Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci U S A (2004) 2.13
Predicting the functional consequences of cancer-associated amino acid substitutions. Bioinformatics (2013) 2.12
Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study. Lancet (2002) 2.12
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet (2005) 2.10
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. Genome Biol (2004) 2.05
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat (2007) 2.03
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet (2009) 2.03
Implications of early aortic stiffening in patients with transposition of the great arteries after arterial switch operation. Circ Cardiovasc Imaging (2013) 2.01
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
MHC class I alleles influence set-point viral load and survival time in simian immunodeficiency virus-infected rhesus monkeys. J Immunol (2002) 1.97
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Curr Protoc Bioinformatics (2012) 1.97
Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol (2012) 1.89
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals. Mech Ageing Dev (2011) 1.88
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions. Hum Mutat (2010) 1.81
A controlled prospective case control study of a prevention training program in female team handball players: the German experience. Arch Orthop Trauma Surg (2005) 1.77
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat (2005) 1.74
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat (2003) 1.73
Patterns of linkage disequilibrium in the MHC region on human chromosome 6p. Hum Genet (2004) 1.73
Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprinting. Genome Res (2012) 1.73
Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol (2010) 1.72
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet (2010) 1.72
Maladaptive aortic properties in children after palliation of hypoplastic left heart syndrome assessed by cardiovascular magnetic resonance imaging. Circulation (2010) 1.68
No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans. Proc Natl Acad Sci U S A (2005) 1.66
Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians. Hepatology (2010) 1.65
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat (2009) 1.64
A longitudinal analysis of reproductive skew in male rhesus macaques. Proc Biol Sci (2004) 1.64
Identifying Mendelian disease genes with the variant effect scoring tool. BMC Genomics (2013) 1.64
A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat (2008) 1.63
Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur J Hum Genet (2003) 1.60
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
Systematic association mapping identifies NELL1 as a novel IBD disease gene. PLoS One (2007) 1.57
Development of a predictive model to identify inpatients at risk of re-admission within 30 days of discharge (PARR-30). BMJ Open (2012) 1.56
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet (2006) 1.55
DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery. Cell Metab (2013) 1.55
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. J Clin Endocrinol Metab (2004) 1.55
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain. Hum Mutat (2012) 1.55
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet (2005) 1.54
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat (2004) 1.54
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. Nat Genet (2008) 1.54
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus. Hepatology (2013) 1.53
Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord (2002) 1.51
Loss of exon identity is a common mechanism of human inherited disease. Genome Res (2011) 1.44
Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet (2013) 1.43
CRAVAT: cancer-related analysis of variants toolkit. Bioinformatics (2013) 1.43
Complex gene rearrangements caused by serial replication slippage. Hum Mutat (2005) 1.41
Comparison of a continuous noninvasive arterial pressure device with invasive measurements in cardiovascular postsurgical intensive care patients: a prospective observational study. Eur J Anaesthesiol (2015) 1.40
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution. BMC Evol Biol (2009) 1.40
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat (2005) 1.37
Entropy-based SNP selection for genetic association studies. Hum Genet (2003) 1.36
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet (2006) 1.33
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biol (2014) 1.32
Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet (2005) 1.32
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31