Published in Genomics on January 01, 1990
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet (1992) 2.70
Deciphering the biology of Mycobacterium tuberculosis from the complete genome sequence. Nature (1998) 60.62
Effects of an angiotensin-converting-enzyme inhibitor, ramipril, on cardiovascular events in high-risk patients. The Heart Outcomes Prevention Evaluation Study Investigators. N Engl J Med (2000) 29.25
'Touchdown' PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res (1991) 19.71
The genome of the social amoeba Dictyostelium discoideum. Nature (2005) 9.18
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature (1987) 7.88
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell (1996) 7.86
Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature (1985) 7.77
The rapid formation of a large rotating disk galaxy three billion years after the Big Bang. Nature (2006) 6.44
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet (1998) 5.24
The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet (1994) 4.94
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet (2000) 4.63
Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet (1986) 3.83
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet (1997) 3.39
Integrating case-control and TDT studies. Ann Hum Genet (2005) 3.19
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
Two-locus maximum lod score analysis of a multifactorial trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type 1 diabetes. Am J Hum Genet (1995) 3.02
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet (1999) 3.01
Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature (1988) 2.96
Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood (2000) 2.95
DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. Hum Mol Genet (2000) 2.93
Linkage of the angiotensinogen gene to essential hypertension. N Engl J Med (1994) 2.80
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet (1992) 2.70
Municipal waterborne giardiasis: an epidemilogic investigation. Beavers implicated as a possible reservoir. Ann Intern Med (1980) 2.69
Targeted disruption of the Wnt2 gene results in placentation defects. Development (1996) 2.59
Sequence of Plasmodium falciparum chromosomes 1, 3-9 and 13. Nature (2002) 2.59
Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet (1998) 2.53
Survival in frontotemporal dementia. Neurology (2003) 2.48
Medulloblastomas of the desmoplastic variant carry mutations of the human homologue of Drosophila patched. Cancer Res (1997) 2.45
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
A randomized trial of two dose levels of cyclophosphamide, methotrexate, and fluorouracil chemotherapy for patients with metastatic breast cancer. J Clin Oncol (1988) 2.37
Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res (1986) 2.34
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci U S A (1999) 2.24
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum Mol Genet (2001) 2.24
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet (2000) 2.20
Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus. Nucleic Acids Res (1987) 2.16
Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet (1985) 2.14
Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet (1994) 2.06
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet (1999) 2.05
Perioperative corticosteroid supplementation and dento-alveolar surgery. Dent Update (2003) 2.02
Simultaneous on-line DNA sequencing on both strands with two fluorescent dyes. Anal Biochem (1995) 2.01
Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet (2004) 1.99
Predisposing locus for Alzheimer's disease on chromosome 21. Lancet (1989) 1.99
Change in cartilage morphometry: a sample of the progression cohort of the Osteoarthritis Initiative. Ann Rheum Dis (2008) 1.98
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology (1995) 1.97
Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc Natl Acad Sci U S A (2001) 1.96
Electrocardiographic measures of left ventricular hypertrophy show greater heritability than echocardiographic left ventricular mass. Eur Heart J (2002) 1.89
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum Mol Genet (2000) 1.84
Invertase and disulphide bridges in the yeast wall. J Gen Microbiol (1970) 1.80
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet (2001) 1.78
Indirect cystic fibrosis carrier detection. Lancet (1987) 1.76
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell (2001) 1.75
Genome-wide association study of body mass index in 23 000 individuals with and without asthma. Clin Exp Allergy (2013) 1.74
Simulation model for planning renal services in a district health authority. BMJ (1992) 1.73
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Hum Mol Genet (1995) 1.68
Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene. Genomics (1997) 1.68
Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J (1988) 1.67
Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. Am J Hum Genet (1989) 1.66
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet (1999) 1.65
SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway. Proc Natl Acad Sci U S A (2001) 1.65
Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nat Genet (1993) 1.63
Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med (1994) 1.63
First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet (1986) 1.61
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet (1988) 1.60
A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Hum Mol Genet (1996) 1.60
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet (2003) 1.59
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature (1990) 1.57
Difficult tracheal intubation secondary to a tracheal diverticulum and a 90 degree deviation in the trachea. Anaesthesia (2000) 1.57
Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics (1993) 1.55
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet (1997) 1.55
Ontario familial colon cancer registry: methods and first-year response rates. Chronic Dis Can (2000) 1.55
Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. Genomics (1999) 1.55
Microdissection of and microcloning from the short arm of human chromosome 2. Mol Cell Biol (1986) 1.55
Thrombocytopenia associated with legionnaires' disease. Br Med J (1978) 1.54
A review of evaluative studies of computer-based learning in nursing education. Nurse Educ Today (2001) 1.54
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53
Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging. Brain Res Mol Brain Res (1997) 1.53
Chemosis following blepharoplasty: an unusual complication. Ophthalmic Surg (1995) 1.52
The associations of anxiety, depression and personal illness representations with glycaemic control and health-related quality of life in patients with type 2 diabetes mellitus. J Psychosom Res (2004) 1.52
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. Hum Genet (1993) 1.51
Mapping of a major genetic modifier of embryonic lethality in TGF beta 1 knockout mice. Nat Genet (1997) 1.51
Sonic Hedgehog regulates Hes1 through a novel mechanism that is independent of canonical Notch pathway signalling. Oncogene (2007) 1.51
Biological effects of tremolite. Br J Cancer (1982) 1.50
Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am J Hum Genet (2001) 1.50
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat (2000) 1.49
A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction. Gene Ther (1996) 1.49
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet (2000) 1.48
Impact of lipoprotein(a) levels and apolipoprotein(a) isoform size on risk of coronary heart disease. J Intern Med (2014) 1.48
Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene. Genomics (1991) 1.48
Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene. Am J Hum Genet (1988) 1.48