Published in Hum Genet on February 01, 1987
Risk calculations under heterogeneity. Am J Hum Genet (1989) 2.07
Genetic counseling in rare syndromes: a resampling method for determining an approximate confidence interval for gene location with linkage data from a single pedigree. Am J Hum Genet (1990) 1.15
Prenatal prediction of spinal muscular atrophy. J Med Genet (1992) 1.09
A likelihood approach to calculating risk support intervals. Am J Hum Genet (1994) 1.00
Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet (2001) 7.27
The human gene mutation database. Nucleic Acids Res (1998) 6.38
Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet (2000) 3.59
Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes. Hum Genet (1989) 3.27
DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures. Forensic Sci Int (2006) 3.20
Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med (1997) 3.19
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De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet (1997) 2.05
Use of X-linked markers for forensic purposes. Int J Legal Med (2003) 1.91
Chromosome Y microsatellites: population genetic and evolutionary aspects. Int J Legal Med (1997) 1.89
Examination of the current top candidate genes for AD in a genome-wide association study. Mol Psychiatry (2009) 1.89
Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet (1996) 1.84
Human gene cloning: the storm before the lull? Nature (1986) 1.78
An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet (2001) 1.70
Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int (2001) 1.67
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet (2000) 1.61
Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques. Proc Natl Acad Sci U S A (2001) 1.61
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet (1997) 1.49
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J Med Genet (1999) 1.45
DNA-fingerprinting: a short note on mutation rates. Hum Genet (1991) 1.44
Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet (1991) 1.44
Sex difference in D7S8 marker allele distribution in adult cystic fibrosis patients. Lancet (1989) 1.39
Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost (1995) 1.36
A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males. Forensic Sci Int (2000) 1.35
Genetic association studies of bronchial asthma--a need for Bonferroni correction? Hum Genet (2000) 1.31
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet (1998) 1.29
DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Int J Legal Med (2001) 1.28
Disease-causing mutations in the human genome. Eur J Pediatr (2000) 1.22
Mhc class I haplotypes associated with survival time in simian immunodeficiency virus (SIV)-infected rhesus macaques. Genes Immun (2007) 1.22
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Hum Genet (1991) 1.16
A search for restriction fragment length polymorphism on the human Y chromosome. Hum Genet (1989) 1.16
Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence. Hum Genet (2001) 1.15
Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q. Hum Mol Genet (2000) 1.11
The effect of replication errors on the mismatch analysis of PCR-amplified DNA. Nucleic Acids Res (1990) 1.08
Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques. Hum Genet (2001) 1.06
Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn's disease treated with infliximab. Pharmacogenomics J (2002) 1.05
DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Forensic Sci Int (2001) 1.04
Molecular genetic evidence for the human settlement of the Pacific: analysis of mitochondrial DNA, Y chromosome and HLA markers. Philos Trans R Soc Lond B Biol Sci (1999) 1.04
Paternity assessment in rhesus macaques (Macaca mulatta): multilocus DNA fingerprinting and PCR marker typing. Am J Primatol (1998) 1.02
Natal dispersal in rhesus macaques is related to serotonin transporter gene promoter variation. Behav Genet (2000) 1.00
Linkage relationship between retinoschisis and four marker loci. Hum Genet (1988) 1.00
Common familial influences on clustering of metabolic syndrome traits with central obesity and insulin resistance: the Kiel obesity prevention study. Int J Obes (Lond) (2006) 1.00
Core database. Nature (1995) 0.98
The interpretation of lineage markers in forensic DNA testing. Forensic Sci Int Genet (2011) 0.97
Location of mutations within the PKD2 gene influences clinical outcome. Kidney Int (2000) 0.97
Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency. Lancet (1990) 0.96
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J Med Genet (2007) 0.96
Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. Gut (2005) 0.96
Linkage disequilibrium mapping provides further evidence of a gene for reading disability on chromosome 6p21.3-22. Mol Psychiatry (2003) 0.95
Genetic studies of common types of obesity: a critique of the current use of phenotypes. Obes Rev (2010) 0.95
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet (1992) 0.95
Human Gene Mutation Database. Hum Genet (1996) 0.95
Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci. Hum Genet (1987) 0.94
Mapping of a further locus for X-linked craniofrontonasal syndrome. Cytogenet Genome Res (2002) 0.94
Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival. Hum Genet (1997) 0.93
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Applications of microsatellite-based Y chromosome haplotyping. Electrophoresis (1997) 0.91
Consequences of group fission for the patterns of relatedness among rhesus macaques. Mol Ecol (2006) 0.90
A comparison of methods currently used in clinical practice to estimate familial breast cancer risks. Ann Oncol (2000) 0.89
Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene. Gene (2000) 0.89
Homozygosity for a conserved Mhc class II DQ-DRB haplotype is associated with rapid disease progression in simian immunodeficiency virus-infected macaques: results from a prospective study. J Infect Dis (2000) 0.86
Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Hum Genet (2000) 0.86
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet (1997) 0.85
The frequency of inherited disorders database: prevalence of Huntington disease. Community Genet (2001) 0.84
A German Chlamydia trachomatis screening program employing semi-automated real-time PCR: results and perspectives. J Clin Virol (2009) 0.84
Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers. Hum Genet (1987) 0.83
Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Hum Genet (2000) 0.83
Likelihoods of multilocus DNA fingerprints in extended families. Am J Hum Genet (1992) 0.83
Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53. Hum Genet (1999) 0.83
The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene. Hum Genet (1990) 0.82
Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Mol Psychiatry (2002) 0.81
Frequency of the cystic fibrosis mutation delta F508 in Poland. Hum Genet (1991) 0.80
A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA. Genomics (1994) 0.80
TSPY variants in six loci on the human Y chromosome. Cytogenet Cell Genet (2000) 0.80
Population genetics of Y-chromosomal microsatellites in Baltic males. Forensic Sci Int (2001) 0.80
Functional analysis of an unusual length polymorphism in the human antithrombin III (AT3) gene promoter. Blood Coagul Fibrinolysis (1995) 0.80
Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA. Hum Genet (1998) 0.79
Recurrent deletion in the human antithrombin III gene. Blood (1991) 0.79
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene. Hum Mol Genet (1995) 0.79
Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene. Hum Genet (1992) 0.79
DNA sequence polymorphisms in genes involved in the regulation of dopamine and serotonin metabolism in rhesus macaques. Electrophoresis (1999) 0.78
Molecular evolution of the murine tspy genes. Cytogenet Cell Genet (2000) 0.78
Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein. Hum Genet (1994) 0.78
Prenatal exclusion without involving the putative fathers of an incestuous father-daughter parenthood. Prenat Diagn (2004) 0.78
Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease. Clin Genet (2001) 0.77
Polymorphic variation in the human protein C (PROC) gene promoter can influence transcriptional efficiency in vitro. Blood Coagul Fibrinolysis (1995) 0.77
Genetic influences in the formation of nasal polyps. Lancet (1991) 0.77
Risk of fetal Down's syndrome based on maternal age and varying combinations of maternal serum markers. Arch Gynecol Obstet (1994) 0.77
Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX. Hum Genet (1985) 0.77
Meiotic microdeletion breakpoints in the BRCA1 gene are significantly associated with symmetric DNA-sequence elements. Am J Hum Genet (1997) 0.76
Genetic analysis of susceptibility to diabetes mellitus in F2-hybrids between diabetes-prone BB and various MHC-recombinant congenic rat strains. J Autoimmun (1991) 0.76
Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families. Hum Genet (1990) 0.76
Contracting for clinical genetic services: the Welsh model. J Med Genet (1998) 0.75
Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. J Med Genet (1995) 0.75
Genotype-phenotype correlations in cystic fibrosis patients. Adv Exp Med Biol (1991) 0.75
Genetic determinants in cystic fibrosis. Lancet (1991) 0.75
Does the omission of missing information bias the estimates of age-at-onset distributions? Am J Hum Genet (1992) 0.75
Locus homogeneity for cartilage-hair hypoplasia proven? Hum Genet (1995) 0.75
Oligonucleotide DNA fingerprinting: results of a multi-center study on reliability and validity. EXS (1993) 0.75