Published in Hum Mol Genet on July 01, 1995
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The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery. Genet Epidemiol (2011) 2.54
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Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet (1991) 1.62
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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet (1996) 1.56
Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy. J Exp Med (1996) 1.56
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Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology (2002) 1.54
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet (1995) 1.49
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. Ann Neurol (1998) 1.48
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet (1990) 1.48
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Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (1997) 1.40
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet (1996) 1.39
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MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology (2001) 1.36
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Decreased platelet expression of myosin regulatory light chain polypeptide (MYL9) and other genes with platelet dysfunction and CBFA2/RUNX1 mutation: insights from platelet expression profiling. J Thromb Haemost (2006) 1.35
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Dystrophin deficiency causes lethal muscle hypertrophy in cats. J Neurol Sci (1992) 1.33
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. J Clin Invest (1989) 1.30
A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice. J Neurol Sci (1994) 1.28
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A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am J Hum Genet (1995) 1.26
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). Am J Med Genet (1998) 1.24
A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology (1997) 1.23
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology (2002) 1.20
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A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology (2000) 1.16
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet (1995) 1.15
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev (2002) 1.14