Published in Am J Public Health on December 01, 1982
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Genetic screening: implications for preventive medicine. Am J Public Health (1983) 1.05
Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies. Am J Public Health (1991) 0.89
Maternal PKU: control of an emerging problem. Am J Public Health (1982) 0.89
Maternal PKU--a continuing problem. Am J Public Health (1988) 0.80
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med (1980) 3.74
A report on genetic registers. Based on the report of the Clinical Genetics Society Working Party. J Med Genet (1978) 2.09
On the application of knowledge to the patient with genetic disease. Prog Med Genet (1973) 1.84
Genetics and Medicine: an evolving relationship. Science (1978) 1.65
Results of mass screening for hyperaminoacidemias in the newborn infant. Am J Dis Child (1969) 1.14
Nutritional management of the female with phenylketonuria during pregnancy. Am J Clin Nutr (1977) 1.10
Observations on the composition of milk-substitute products for treatment of inborn errors of amino acid metabolism. Comparisons with human milk. A proposal to rationalize nutrient content of treatment products. Am J Clin Nutr (1979) 0.98
Description of a handicapped population: the British Columbia Health Surveillance Registry. Birth Defects Orig Artic Ser (1976) 0.85
Reproductive counselling for adolescent females with phenylketonuria. J Inherit Metab Dis (1980) 0.85
[The genetic medicine network in Quebec: An integrated program for diagnosis, counseling and treatment of hereditary metabolic diseases]. Union Med Can (1975) 0.85
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
An STS-based map of the human genome. Science (1995) 17.72
The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64
A second-generation linkage map of the human genome. Nature (1992) 16.32
A gene map of the human genome. Science (1996) 14.32
A physical map of 30,000 human genes. Science (1998) 12.43
If nothing goes wrong, is everything all right? Interpreting zero numerators. JAMA (1983) 8.36
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res (1991) 3.89
Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene. N Engl J Med (1974) 3.47
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
The presence of ancient human T-cell lymphotropic virus type I provirus DNA in an Andean mummy. Nat Med (1999) 2.99
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
The use of biochemical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet (1974) 2.43
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet (1998) 2.34
Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience. Pediatrics (1977) 2.29
Beta-thalassemia disease prevention: genetic medicine applied. Am J Hum Genet (1984) 2.27
The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J (1973) 2.22
The effect of Mendelian disease on human health: a measurement. Am J Med Genet (1985) 2.18
Transient tyrosinemia of the newborn: dietary and clinical aspects. Pediatrics (1967) 2.15
Screening, counselling and treatment of hereditary metabolic disease; a survey of resources in Canada. Can Med Assoc J (1974) 2.11
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal. Am J Med Genet (1984) 2.04
Maternal-age effect in aneuploidy: does altered embryonic selection play a role? Am J Hum Genet (1982) 2.03
Cost-benefit analysis of a thalassemia disease prevention program. Am J Public Health (1985) 1.99
The HUGO Mutation Database Initiative. Science (1998) 1.95
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet (1996) 1.94
Carrier screening for Tay-Sachs disease. Lancet (1990) 1.92
On the application of knowledge to the patient with genetic disease. Prog Med Genet (1973) 1.84
Science's neglected legacy. Nature (2000) 1.77
Proof of "disease causing" mutation. Hum Mutat (1998) 1.68
What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet (1993) 1.68
Genetics and Medicine: an evolving relationship. Science (1978) 1.65
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia. Science (1972) 1.48
Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families. Eur J Epidemiol (1991) 1.48
Preliminary results on the mental development of hypothyroid infants detected by the Quebec Screening Program. J Pediatr (1983) 1.46
Follow-up at ages 5 and 7 years on mental development in children with hypothyroidism detected by Quebec Screening Program. J Pediatr (1985) 1.46
Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med (1972) 1.46
Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: evidence for a defect in the brush border membrane. Kidney Int (1978) 1.45
Genetic counseling--the postcounseling period: I. Parents' perceptions of uncertainty. Am J Med Genet (1979) 1.45
The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). Can J Biochem (1978) 1.45
Modification of a screening program for neonatal hypothyroidism. J Pediatr (1978) 1.44
Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. Can Med Assoc J (1975) 1.42
Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet (1989) 1.40
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N Engl J Med (1978) 1.40
[Tay-Sachs disease: prenatal detection and diagnosis]. Union Med Can (1972) 1.36
Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia (2004) 1.35
Labile methyl group balances in the human: the role of sarcosine. Metabolism (1980) 1.34
Endogenous renal clearance rates of free amino acids in pre-pubertal children. (Employing an accelerated procedure for elution chromatography of basic amino acids on ion exchange resin). Pediatrics (1965) 1.34
Phenylketonuria: epitome of human biochemical genetics (first of two parts). N Engl J Med (1980) 1.30
Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts. Lancet (1970) 1.30
Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. Prog Clin Biol Res (1977) 1.30
Thiamine-responsive maple-syrup-urine disease. Lancet (1971) 1.29
Familial cold urticaria. Clin Exp Dermatol (1993) 1.29
Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency. Pediatr Res (1967) 1.29
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet (1990) 1.28
Phenylketonuria and other phenylalanine hydroxylation mutants in man. Annu Rev Genet (1980) 1.27
Management of hereditary metabolic disease. The role of allied health personnel. N Engl J Med (1971) 1.26
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A (1999) 1.25
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet (1997) 1.25
Isolated four-chamber working swine heart model. Ann Thorac Surg (2000) 1.24
Outcome of early and long-term management of classical maple syrup urine disease. Pediatrics (1981) 1.22
PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res (1996) 1.21
The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. Birth Defects Orig Artic Ser (1971) 1.20
Diagnosis and treatment: interpreting the positive screening test in the newborn infant. Pediatrics (1967) 1.20
Heterogeneity in genetic control of phenylalanine metabolism in man. Nature (1968) 1.19
Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease. Metabolism (1974) 1.18
Cystic fibrosis genotypes and views on screening are both heterogeneous and population related. Am J Hum Genet (1992) 1.17
Genetic counseling: provision and reception of information. Am J Med Genet (1979) 1.15
The application of an automated hexosaminidase assay to genetic screening. Clin Chim Acta (1974) 1.15
X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization. J Clin Endocrinol Metab (1981) 1.15
The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci U S A (1986) 1.14
Results of mass screening for hyperaminoacidemias in the newborn infant. Am J Dis Child (1969) 1.14
Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat (1996) 1.14
Normal plasma free amino acid values in adults: the influence of some common physiological variables. Metabolism (1985) 1.12
Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. Am J Hum Genet (2001) 1.12
Phenylketonuria: epitome of human biochemical genetics (second of two parts). N Engl J Med (1980) 1.11
Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet (1998) 1.11
Amino acid transport in mammalian kidney: Multiple systems for imino acids and glycine in rat kidney. Am J Physiol (1970) 1.11
Age at onset and causes of disease. Perspect Biol Med (1986) 1.09
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites. Biochem J (1976) 1.08