Published in Hum Mutat on June 01, 2010
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
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
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet (2013) 2.66
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
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
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet (2015) 2.22
Genetic studies in intellectual disability and related disorders. Nat Rev Genet (2015) 1.40
Disclosing individual CDKN2A research results to melanoma survivors: interest, impact, and demands on researchers. Cancer Epidemiol Biomarkers Prev (2011) 1.32
Child development and molecular genetics: 14 years later. Child Dev (2012) 1.23
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Res (2011) 1.21
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet (2012) 1.17
A generalizable pre-clinical research approach for orphan disease therapy. Orphanet J Rare Dis (2012) 1.16
Notch activation of Jagged1 contributes to the assembly of the arterial wall. Circulation (2011) 1.14
On the future of genetic risk assessment. J Community Genet (2012) 1.12
Saturation of the human phenome. Curr Genomics (2010) 1.09
A genome sequencing program for novel undiagnosed diseases. Genet Med (2015) 1.05
Characterization of whole genome amplified (WGA) DNA for use in genotyping assay development. BMC Genomics (2012) 0.99
Biallelic MUTYH mutations can mimic Lynch syndrome. Eur J Hum Genet (2014) 0.98
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
FLAGS, frequently mutated genes in public exomes. BMC Med Genomics (2014) 0.94
DNA shape, genetic codes, and evolution. Curr Opin Struct Biol (2011) 0.94
Towards linked open gene mutations data. BMC Bioinformatics (2012) 0.92
Genetic tests obtainable through pharmacies: the good, the bad, and the ugly. Hum Genomics (2013) 0.88
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2. Eur J Hum Genet (2012) 0.87
Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data. PLoS One (2013) 0.86
Prediction of functional regulatory SNPs in monogenic and complex disease. Hum Mutat (2011) 0.85
Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Proc Natl Acad Sci U S A (2016) 0.84
Somatic mutations, allele loss, and DNA methylation of the Cub and Sushi Multiple Domains 1 (CSMD1) gene reveals association with early age of diagnosis in colorectal cancer patients. PLoS One (2013) 0.84
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. Eur J Hum Genet (2011) 0.83
Disease-associated variants in different categories of disease located in distinct regulatory elements. BMC Genomics (2015) 0.83
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes. JIMD Rep (2012) 0.83
Non-coding keratin variants associate with liver fibrosis progression in patients with hemochromatosis. PLoS One (2012) 0.82
Molecular genetic epidemiology of human diseases: from patterns to predictions. Hum Genet (2013) 0.81
Exploiting CpG hypermutability to identify phenotypically significant variation within human protein-coding genes. Genome Biol Evol (2011) 0.81
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A. Neurogenetics (2012) 0.81
A new era in the discovery of de novo mutations underlying human genetic disease. Hum Genomics (2012) 0.81
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
Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies. J Bone Miner Res (2015) 0.80
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions. Bioinformatics (2012) 0.79
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders. Hum Genet (2011) 0.78
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1. Hum Genomics (2013) 0.77
Linkage Analysis of Urine Arsenic Species Patterns in the Strong Heart Family Study. Toxicol Sci (2015) 0.77
The Role of Deleterious Substitutions in Crop Genomes. Mol Biol Evol (2016) 0.77
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases. BMC Genomics (2014) 0.76
Finding protein-coding genes through human polymorphisms. PLoS One (2013) 0.76
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation. BioData Min (2013) 0.76
Prospects for the automated extraction of mutation data from the scientific literature. Hum Genomics (2010) 0.76
Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. Sci Rep (2017) 0.75
The rs225017 polymorphism in the 3'UTR of the human DIO2 gene is associated with increased insulin resistance. PLoS One (2014) 0.75
The mutome and the 100,000 mutation milestone. Hum Mutat (2010) 0.75
'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care. Hum Genomics (2012) 0.75
A Novel Single Nucleotide T980C Polymorphism in the Human Carboxypeptidase E Gene Results in Loss of Neuroprotective Function. PLoS One (2017) 0.75
Symptom-driven idiopathic disease gene identification. Genet Med (2015) 0.75
Targeted resequencing and variant validation using pxlence PCR assays. Biomol Detect Quantif (2015) 0.75
Regulatory single nucleotide polymorphisms (rSNPs) at the promoters 1A and 1B of the human APC gene. BMC Genet (2016) 0.75
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genet Med (2016) 0.75
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PLoS One (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
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
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
Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol (2013) 2.85
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
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
Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet (2006) 2.44
Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Nat Biotechnol (2011) 2.37
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
Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study. Lancet (2002) 2.12
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat Genet (2013) 2.10
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
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
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet (2008) 1.94
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet (2006) 1.90
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
Comparative analysis of genome sequences covering the seven cronobacter species. PLoS One (2012) 1.79
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
No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans. Proc Natl Acad Sci U S A (2005) 1.66
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. Blood (2008) 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
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
DNA methylation analysis in nonalcoholic fatty liver disease suggests distinct disease-specific and remodeling signatures after bariatric surgery. Cell Metab (2013) 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
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53