Published in Am J Hum Genet on May 01, 2000
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
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Using biological knowledge to uncover the mystery in the search for epistasis in genome-wide association studies. Ann Hum Genet (2011) 1.16
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Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells. Mol Genet Metab (2007) 0.94
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Gene preference in maple syrup urine disease. Am J Hum Genet (2000) 0.89
Hypogonadotropic hypogonadism in subjects with DAX1 mutations. Mol Cell Endocrinol (2011) 0.89
DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. Am J Hum Genet (2000) 0.89
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Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol (2014) 0.88
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. Hum Mutat (2010) 0.86
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Disease-associated pathophysiologic structures in pediatric rheumatic diseases show characteristics of scale-free networks seen in physiologic systems: implications for pathogenesis and treatment. BMC Med Genomics (2009) 0.85
Analysis of heterogeneity and epistasis in physiological mixed populations by combined structural equation modelling and latent class analysis. BMC Genet (2008) 0.85
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Allelic variation, aneuploidy, and nongenetic mechanisms suppress a monogenic trait in yeast. Genetics (2014) 0.83
Holoprosencephaly: a guide to diagnosis and clinical management. Indian Pediatr (2011) 0.83
In silico and functional studies of the regulation of the glucocerebrosidase gene. Mol Genet Metab (2009) 0.82
Identifying modifier loci in existing genome scan data. Ann Hum Genet (2008) 0.82
Epidemiological survey of idiopathic scoliosis and sequence alignment analysis of multiple candidate genes. Int Orthop (2011) 0.82
Firing up the nature/nurture controversy: bioethics and genetic determinism. J Med Ethics (2005) 0.81
Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. Mol Genet Metab (2011) 0.81
Moonlighting function of glycerol kinase causes systems-level changes in rat hepatoma cells. Metab Eng (2010) 0.81
Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation. Br J Ophthalmol (2005) 0.80
Dynamic tracking of functional gene modules in treated juvenile idiopathic arthritis. Genome Med (2015) 0.80
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S. JIMD Rep (2012) 0.79
Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes. PLoS One (2012) 0.79
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism. PLoS One (2013) 0.78
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population. Genet Test Mol Biomarkers (2011) 0.78
An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin. PLoS One (2013) 0.78
Garrod's foresight; our hindsight. J Inherit Metab Dis (2001) 0.77
Predicting functional and regulatory divergence of a drug resistance transporter gene in the human malaria parasite. BMC Genomics (2015) 0.77
Refining the continuum of CFTR-associated disorders in the era of newborn screening. Clin Genet (2016) 0.77
A Next Generation Multiscale View of Inborn Errors of Metabolism. Cell Metab (2015) 0.76
Newborn screening: After the thrill is gone. Mol Genet Metab (2007) 0.76
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Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene. Mol Genet Metab Rep (2015) 0.75
Disruption of glycerol metabolism by RNAi targeting of genes encoding glycerol kinase results in a range of phenotype severity in Drosophila. PLoS One (2013) 0.75
Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis. Clin Exp Immunol (2011) 0.75
Cichlid fishes as a model to understand normal and clinical craniofacial variation. Dev Biol (2015) 0.75
Ligament versus bone cell identity in the zebrafish hyoid skeleton is regulated by mef2ca. Development (2016) 0.75
New insights from monogenic diabetes for "common" type 2 diabetes. Front Genet (2015) 0.75
Connecting mutant phenylalanine hydroxylase with phenylketonuria. J Clin Monit Comput (2008) 0.75
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε. J Am Soc Nephrol (2017) 0.75
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet (2000) 4.12
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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
Use of the polymerase chain reaction for physical mapping of Escherichia coli genes. J Bacteriol (1991) 1.45
Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab (2000) 1.39
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Targeting of hexokinase 1 to liver and hepatoma mitochondria. Proc Natl Acad Sci U S A (1992) 1.17
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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
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IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab (1999) 1.05
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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
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Mammalian hexokinase 1: evolutionary conservation and structure to function analysis. Genomics (1991) 0.97
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Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology (1980) 0.95
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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
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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
Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens. Biochem Med Metab Biol (1991) 0.90
Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter. Biochem Biophys Res Commun (1995) 0.90
Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. Pediatr Res (1986) 0.90
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat (2000) 0.90
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The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily. Recent Prog Horm Res (1996) 0.88
Infectious and bleeding complications in patients with glycogenosis Ib. Am J Dis Child (1985) 0.88
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Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newborns. Arch Pathol Lab Med (1993) 0.87
Human glycerol kinase deficiency: an inborn error of compartmental metabolism. Biochem Med (1983) 0.87
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases. Eur J Pediatr (1987) 0.86
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Am J Hum Genet (1990) 0.86
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