Darrel J. Waggoner to Mutation
This is a "connection" page, showing publications Darrel J. Waggoner has written about Mutation.
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0.537
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BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE. Retin Cases Brief Rep. 2016; 10(3):211-3.
Score: 0.228
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A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet. 2012 Oct 05; 91(4):608-20.
Score: 0.045
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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet. 2011 Apr 01; 20(7):1285-9.
Score: 0.040
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Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009 Oct; 2(5):442-9.
Score: 0.036
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Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am J Med Genet A. 2008 Jun 01; 146A(11):1414-22.
Score: 0.034
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A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007 Apr; 17(4):285-9.
Score: 0.031
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NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct; 7(8):524-33.
Score: 0.028
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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
Score: 0.017
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.017
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The natural history of phytosterolemia: Observations on its homeostasis. Atherosclerosis. 2018 02; 269:122-128.
Score: 0.016
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Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet. 2013 Aug; 6(4):327-36.
Score: 0.012
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Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010 Jun 11; 86(6):839-49.
Score: 0.010
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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42.
Score: 0.009
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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov; 58(5):981-6.
Score: 0.007
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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug; 77(2):193-204.
Score: 0.007