Published in Science on May 26, 1978
Beta-thalassemia disease prevention: genetic medicine applied. Am J Hum Genet (1984) 2.27
Cost-benefit analysis of a thalassemia disease prevention program. Am J Public Health (1985) 1.99
Human genetics: schoolyard experiences. Am J Hum Genet (1993) 1.97
Newborn screening in North America. J Inherit Metab Dis (2007) 1.93
Prevention of mental retardation in offspring of hyperphenylalaninemic mothers. Am J Public Health (1982) 1.19
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet (1987) 1.00
Window panes of eternity. Health, disease, and inherited risk. Yale J Biol Med (1983) 0.88
Feasibility of chemical screening of urine for neuroblastoma case finding in infancy in Quebec. CMAJ (1987) 0.77
The Alberta Hereditary Diseases Program: a regional model for delivery of genetic services. CMAJ (1990) 0.76
Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis". Proc Natl Acad Sci U S A (1980) 0.75
The William Allan Memorial Award address: On phosphate transport and genetic screening. "Understanding backward--living forward" in human genetics. Am J Hum Genet (1979) 0.75
2001 ASHG Award for Excellence in Education. ... And know the place for the first time. Am J Hum Genet (2002) 0.75
When your sources talk back: toward a multimodal approach to scientific biography. J Hist Biol (2011) 0.75
Genetic counseling. Am J Hum Genet (1974) 4.86
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
HIV infection among Quebec women giving birth to live infants. CMAJ (1990) 3.38
Studies on the Effect of X Chromosome Inversions on Crossing over in the Third Chromosome of Drosophila Melanogaster. Genetics (1944) 3.21
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am J Hum Genet (1990) 3.10
The genetics of cleft lip and cleft palate. Am J Hum Genet (1970) 2.94
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
Strategies for consulting with the community: the cases of four large-scale genetic databases. Sci Eng Ethics (2004) 2.47
The use of biochemical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet (1974) 2.43
A new probe for the diagnosis of myotonic muscular dystrophy. Science (1987) 2.35
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
Preliminary report on a mass screening program for neonatal hypothyroidism. J Pediatr (1975) 2.25
Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly". Am J Med Genet (1981) 2.24
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
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet (1980) 2.02
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
Spectrum of anomalies in Fanconi anaemia. J Med Genet (1982) 1.93
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
Cranio-carpo-tarsal dysplasia. Report of a case in father and son. JAMA (1970) 1.83
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
Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree. J Med Genet (1979) 1.65
A genetic study of Wilson's disease: evidence for heterogeneity. Am J Hum Genet (1972) 1.55
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet (1980) 1.55
Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome. J Pediatr (1976) 1.53
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
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
The multifactorial/threshold concept -- uses and misuses. Teratology (1976) 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
Increased frequency of neural tube defects in sibs of children with other malformations. Lancet (1982) 1.41
Hereditary factors in atrial septal defect. Circulation (1967) 1.40
Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet (1989) 1.40
Association between Alzheimer disease and amyotrophic lateral sclerosis? Can J Neurol Sci (1990) 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
A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. Am J Dis Child (1971) 1.36
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
Genetics as a health-care service. N Engl J Med (1976) 1.33
Epidemiological studies of neural tube defects in Newfoundland. Teratology (1987) 1.32
Phenylketonuria: epitome of human biochemical genetics (first of two parts). N Engl J Med (1980) 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
Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts. Lancet (1970) 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
Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia. Clin Chim Acta (1982) 1.28
Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome? J Med Genet (1977) 1.27
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet (1978) 1.27
Phenylketonuria and other phenylalanine hydroxylation mutants in man. Annu Rev Genet (1980) 1.27
Hormone treatment during pregnancy and congenital heart defects. Lancet (1973) 1.26
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
A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis. J Cell Biol (1971) 1.24
DNA sampling and informed consent. CMAJ (1989) 1.24
Thyroid function in neonatal hypothyroidism. J Pediatr (1976) 1.24
Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter. J Bone Joint Surg Br (1971) 1.22
Genetics of hereditary nephropathy with deafness (Alport's disease). Clin Genet (1971) 1.22
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
Relation of face shape to susceptibility to congenital cleft lip. A preliminary report. J Med Genet (1970) 1.21
[Thyroxine (T4) determination by radioimmunological method in dried blood eluate: new diagnostic method of neonatal hypothyroidism?]. Union Med Can (1973) 1.21
The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. Birth Defects Orig Artic Ser (1971) 1.20