Published in Hum Genet on March 01, 1989
Backtracking leukemia to birth: identification of clonotypic gene fusion sequences in neonatal blood spots. Proc Natl Acad Sci U S A (1997) 2.45
Use of dried blood spot specimens in the detection of human immunodeficiency virus type 1 by the polymerase chain reaction. J Clin Microbiol (1991) 2.05
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A novel polymerase chain reaction method for detection of human immunodeficiency virus in dried blood spots on filter paper. J Clin Microbiol (1992) 1.44
Neonatal screening for sickle cell disorders: what about the carrier infants? BMJ (1996) 1.34
Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet (1993) 1.19
Slow acetylator mutations in the human polymorphic N-acetyltransferase gene in 786 Asians, blacks, Hispanics, and whites: application to metabolic epidemiology. Am J Hum Genet (1993) 1.11
Detection of single base changes in nucleic acids. Biochem J (1989) 1.05
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. J Clin Invest (1992) 0.95
Enhanced direct amplification of Guthrie card DNA following selective elution of PCR inhibitors. Nucleic Acids Res (1995) 0.92
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Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms. J Hum Genet (2014) 0.81
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DNA fingerprinting of Mycobacterium tuberculosis complex culture isolates collected in Brazil and spotted onto filter paper. J Clin Microbiol (1998) 0.79
Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis. Am J Hum Genet (1992) 0.77
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Rapid determination of fetal sex using amniotic fluid cells and the polymerase chain reaction. Arch Gynecol Obstet (1992) 0.75
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DNA techniques for screening of inborn errors of metabolism. Eur J Pediatr (1994) 0.75
Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet (1988) 4.21
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Molecular genetics of human blue cone monochromacy. Science (1989) 2.92
DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet (1987) 2.90
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet (1994) 2.72
Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet (2000) 2.67
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature (1994) 2.57
Prenatal diagnosis and carrier detection of genetic diseases by analysis of deoxyribonucleic acid. J Pediatr (1988) 2.52
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation (1993) 2.30
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis (1998) 1.89
In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine phosphoribosyltransferase protein. Proc Natl Acad Sci U S A (1981) 1.81
Duty to re-contact. Genet Med (2001) 1.80
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet (1994) 1.78
Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic Services. Biochem Mol Med (1996) 1.72
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet (1987) 1.72
Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings. Neurology (1992) 1.70
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet (1991) 1.66
The genetics of cataract: our vision becomes clearer. Am J Hum Genet (1998) 1.61
Autosomal dominant congenital cataract. Interocular phenotypic variability. Ophthalmology (1994) 1.60
Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. J Pediatr (1978) 1.53
Methionine sulfoxide reductase A is important for lens cell viability and resistance to oxidative stress. Proc Natl Acad Sci U S A (2004) 1.48
Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. J Biol Chem (1993) 1.46
The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci (2001) 1.46
Use of the polymerase chain reaction for physical mapping of Escherichia coli genes. J Bacteriol (1991) 1.45
Genetics of human cataract. Clin Genet (2013) 1.41
Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab (2000) 1.39
Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest (1988) 1.37
Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms. Am J Med Genet (1992) 1.33
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet (2000) 1.31
Neuropsychology of early-treated phenylketonuria: specific executive function deficits. Child Dev (1990) 1.31
Exclusion of Usher syndrome gene from much of chromosome 4. Cytogenet Cell Genet (1989) 1.27
Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1. J Med Genet (2006) 1.26
Bacterial species identification after DNA amplification with a universal primer pair. Mol Genet Metab (1999) 1.25
Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). Mol Genet Metab (1998) 1.20
Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane. Biochem Med Metab Biol (1991) 1.18
Targeting of hexokinase 1 to liver and hepatoma mitochondria. Proc Natl Acad Sci U S A (1992) 1.17
Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment length polymorphisms. Neurology (1986) 1.16
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol (1980) 1.15
Newborn screening for phenylketonuria: predictive validity as a function of age. Pediatrics (1983) 1.14
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet (2000) 1.14
Nutritional deficits exist before 2 months of age in some infants with cystic fibrosis identified by screening test. J Pediatr (1984) 1.13
RNA analysis from newborn screening dried blood specimens. Hum Genet (1992) 1.12
Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med (1995) 1.11
Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis. Lancet (1986) 1.11
Glycerol kinase deficiency: evidence for complexity in a single gene disorder. Hum Genet (2001) 1.10
Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). Am J Med Genet (1990) 1.10
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet (1986) 1.09
Neuropsychological deficits in early treated phenylketonuric children. Am J Ment Defic (1985) 1.08
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. Pediatr Res (1980) 1.07
Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol Genet Metab (2001) 1.07
Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12. Am J Hum Genet (1995) 1.07
Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms. Genomics (1994) 1.06
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab (1999) 1.05
Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). Am J Hum Genet (1991) 1.04
Amplification of bacterial DNA using highly conserved sequences: automated analysis and potential for molecular triage of sepsis. Pediatrics (1995) 1.04
Glutathione S-transferase M1 genotype and age-related cataracts. Lack of association in an Italian population. Invest Ophthalmol Vis Sci (1996) 1.03
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat (1997) 1.03
Inheritance of open-angle glaucoma in the Barbados family study. Am J Med Genet (2001) 1.02
Mammalian sex determination: from gonads to brain. Mol Genet Metab (1998) 1.01
Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res (1992) 1.01
ynergy of ethanol and a natural soporific--gamma hydroxybutyrate. Science (1971) 1.00
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J Clin Endocrinol Metab (1996) 1.00
Monomer-dimer equilibrium of normal and modified beta A3-crystallins: experimental determination and molecular modeling. Biochemistry (2000) 1.00
Zinc and copper status of treated children with phenylketonuria. JPEN J Parenter Enteral Nutr (1982) 1.00
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum Mutat (2001) 1.00
Weaver syndrome: the changing phenotype in an adult. Am J Med Genet (1989) 0.99
DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am J Hum Genet (1998) 0.99
1,4-Butanediol--a substrate for rat liver and horse liver alcohol dehydrogenases. Biochem Pharmacol (1972) 0.99
delta- and beta-Crystallin mRNA levels in the embryonic and posthatched chicken lens: temporal and spatial changes during development. Dev Biol (1985) 0.98
Energetics of domain-domain interactions and entropy driven association of beta-crystallins. Biochemistry (2004) 0.97
X-linked infantile spinal muscular atrophy. Am J Dis Child (1988) 0.97
Mammalian hexokinase 1: evolutionary conservation and structure to function analysis. Genomics (1991) 0.97
Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. Am J Ophthalmol (1998) 0.96
Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis. Gene Expr Patterns (2004) 0.96
Glutaric acidemia type II: clinical, biochemical, and morphologic considerations. J Pediatr (1982) 0.95
Evidence of genetic heterogeneity in Romano-Ward long QT syndrome. Analysis of 23 families. Circulation (1994) 0.95
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun (1977) 0.95
Postgenomic medicine. Presymptomatic testing for prediction and prevention. Clin Perinatol (2001) 0.95
Separation and automated analysis of phosphorylated metabolic intermediates. Anal Biochem (1974) 0.95
Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology (1980) 0.95
Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR. PCR Methods Appl (1992) 0.94
Aggregation of beta A3-crystallin is independent of the specific sequence of the domain connecting peptide. J Biol Chem (1994) 0.94
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency. Am J Dis Child (1987) 0.94
Integrating genetic services into public health--guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC). Community Genet (2001) 0.94
Clinical variability and genetic heterogeneity within the Acadian Usher population. Am J Med Genet (1992) 0.94
Dysmorphic features in patients with complex glycerol kinase deficiency. J Pediatr (1995) 0.93
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics (1995) 0.93
Identification and functional clustering of global gene expression differences between age-related cataract and clear human lenses and aged human lenses. Exp Eye Res (2004) 0.93
Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. Arch Ophthalmol (1987) 0.93
Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy. Clin Genet (2000) 0.92
Beta A3/A1-crystallin association: role of the N-terminal arm. Protein Eng (1994) 0.92
DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line. Biochem Mol Med (1997) 0.92
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele. Clin Genet (2003) 0.92
cDNA and deduced protein sequence for the beta B1-crystallin polypeptide of the chicken lens. Conservation of the PAPA sequence. J Biol Chem (1986) 0.92
Local microdomain structure in the terminal extensions of betaA3- and betaB2-crystallins. Mol Vis (1998) 0.92
Comparison of ultraviolet induced photo-kinetics for lens-derived and recombinant beta-crystallins. Mol Vis (2002) 0.92
San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. Am J Med Genet (1991) 0.91