Medical genetics.

DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A (1977) 790.54

Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science (1985) 95.08

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (1989) 40.22

Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61

A rapid banding technique for human chromosomes. Lancet (1971) 27.45

Identification of the cystic fibrosis gene: chromosome walking and jumping. Science (1989) 21.46

A restriction enzyme from Hemophilus influenzae. I. Purification and general properties. J Mol Biol (1970) 19.69

Genetical implications of the structure of deoxyribonucleic acid. Nature (1953) 16.01

Possible prevention of neural-tube defects by periconceptional vitamin supplementation. Lancet (1980) 10.23

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature (1987) 7.88

A closely linked genetic marker for cystic fibrosis. Nature (1985) 7.85

Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature (1985) 7.77

[Study of somatic chromosomes from 9 mongoloid children]. C R Hebd Seances Acad Sci (1959) 6.88

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45

Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport. Nature (1990) 6.41

Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol (1987) 6.20

Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science (1985) 5.81

Multiple congenital anomaly caused by an extra autosome. Lancet (1960) 5.76

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A (1985) 5.50

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09

A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature (1985) 5.07

Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet (1972) 5.04

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature (1989) 4.72

Chromosomal localization of mouse satellite DNA. Science (1970) 4.67

Prenatal sex determination by DNA amplification from maternal peripheral blood. Lancet (1989) 4.42

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N Engl J Med (1978) 4.34

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics (1991) 4.27

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature (1990) 4.26

A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet (1980) 4.22

Carrier screening for cystic fibrosis. Lancet (1989) 4.05

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83

[3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME]. C R Hebd Seances Acad Sci (1963) 3.75

Genetics, ethics, and audit. Lancet (1990) 3.64

The somatic chromosomes in mongolism. Lancet (1959) 3.61

The polymerase chain reaction. A new method of using molecular genetics for medical diagnosis. N Engl J Med (1990) 3.59

The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science (1987) 3.59

A new trisomic syndrome. Lancet (1960) 3.52

Biopsy of human preimplantation embryos and sexing by DNA amplification. Lancet (1989) 3.40

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell (1990) 3.29

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet (1990) 3.27

Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature (1990) 3.09

Mental retardation associated with "balanced" chromosome rearrangements. Am J Hum Genet (1977) 3.06

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03

Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products. Nucleic Acids Res (1988) 3.00

Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin Genet (1985) 2.96

A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis. N Engl J Med (1990) 2.83

Molecular pathology of haemophilia B. EMBO J (1989) 2.74

Long-range restriction site mapping of mammalian genomic DNA. Nature (1986) 2.67

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet (1979) 2.57

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet (1989) 2.43

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr (1980) 2.41

Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet (1990) 2.33

A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet (1976) 2.25

Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion. Lancet (1990) 2.23

Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. J Pediatr (1983) 2.11

Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum Genet (1989) 2.11

FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition. Am J Hum Genet (1981) 2.09

Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet (1987) 2.03

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. Genomics (1987) 1.89

Population incidence and segregation ratios in the Martin-Bell syndrome. Am J Med Genet (1986) 1.86

Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc Natl Acad Sci U S A (1984) 1.86

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. Hum Genet (1984) 1.74

Attitudes of mothers to neonatal screening for Duchenne muscular dystrophy. BMJ (1990) 1.72

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet (1990) 1.71

Parasexual approaches to the genetics of man. Annu Rev Genet (1975) 1.62

First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet (1986) 1.61

Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. Am J Hum Genet (1990) 1.60

Measurement and purification of human chromosomes by flow cytometry and sorting. Proc Natl Acad Sci U S A (1979) 1.58

Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain. Lancet (1971) 1.55

Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. J Pediatr (1972) 1.55

Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21. Am J Hum Genet (1990) 1.49

Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins. Biochim Biophys Acta (1959) 1.43

Chromosome studies in a neonatal population. Can Med Assoc J (1972) 1.42

Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis. Prenat Diagn (1984) 1.37

Second-generation approach to the construction of yeast artificial-chromosome libraries. Genomics (1990) 1.36

Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis. Lancet (1990) 1.36

Amniotic fluid alkaline phosphatase isoenzymes in early prenatal diagnosis of cystic fibrosis. Lancet (1983) 1.23

[New system of chromosome banding: the T bands (author's transl)]. Chromosoma (1973) 1.23

Marker (X)-linked mental retardation. Adv Hum Genet (1983) 1.20

Delta F508 testing of the DNA bank of the Royal Manchester Children's Hospital. Hum Genet (1990) 1.18

Clinic experience of prenatal diagnosis of cystic fibrosis by use of linked DNA probes. Lancet (1987) 1.15

Genetic screening for ethnic minorities. BMJ (1990) 1.10

Dystrophin production induced by myoblast transfer therapy in Duchenne muscular dystrophy. Lancet (1990) 1.09

Identification of deletions in the human low density lipoprotein receptor gene. J Med Genet (1987) 1.08

Reporting the assessment of screening and diagnostic tests. Br J Obstet Gynaecol (1989) 1.08

Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome). Hum Genet (1985) 1.06

Molecular genetics of the human X chromosome. J Med Genet (1985) 1.05

Chromosome anomalies among livebirths. J Med Genet (1977) 1.02

Bloom's syndrome XI. Progress report for 1983. Clin Genet (1984) 0.96

Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome. Am J Med Genet (1986) 0.95

Genomic imprinting. Arch Dis Child (1990) 0.88

Pathogenesis of mental deficiency in trisomy 21. Am J Med Genet Suppl (1990) 0.88

Use of normal daughters' and sisters' creatine kinase levels in estimating heterozygosity in Duchenne muscular dystrophy. Hum Hered (1977) 0.87

A collaborative study of the aetiology of Turner syndrome. Ann Hum Genet (1980) 0.87

Oral folic acid versus placebo in the treatment of males with the fragile X syndrome. Am J Med Genet (1986) 0.87

Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinians. Clin Genet (1984) 0.85

Cytogenetic effects of environmental mutagens in mammalian cells and the extrapolation to man. Mutat Res (1974) 0.82

Decrease in gamma-glutamyl transpeptidase activity in early amniotic fluid in fetal trisomy 18 syndrome. Br Med J (Clin Res Ed) (1982) 0.81

Unusual segregation of cystic fibrosis allele to males. Nature (1988) 0.80

Who should be offered genetic screening? Postgrad Med J (1993) 0.88