Editorial comment on "Whole Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria"

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2069-2070

  Biesecker, Leslie G ^a  

^a Deputy Editor   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COST CONTROL; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; EXOME; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENOME ANALYSIS; HEALTH CARE COST; HUMAN; MEDICAL DECISION MAKING; MICROGYRIA; MOLECULAR PATHOLOGY; NOD2 GENE; NOTE; PERSONALIZED MEDICINE; PHENOTYPIC VARIATION; PHYSICIAN ATTITUDE; PRIORITY JOURNAL; RECURRENT DISEASE; SEQUENCE ANALYSIS; SIBLING; WDR62 GENE;

ABNORMALITIES, MULTIPLE; EXOME; FEMALE; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; NERVE TISSUE PROTEINS;

EID: 81155159632     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34183     Document Type: Note

References (2)

1. Ramocki M, Murdock D, Clark G, Bainbridge M, Newsham I, Wu Y-Q, Muzny D, Cheung SW, Gibbs R. 2011. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet Part A.
2. Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. 2011. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 13: 255-262.