Dysmorphology in the era of whole exome sequencing

Current Opinion in Pediatrics

Volumn 23, Issue 6, 2011, Pages 579-580

  Robin, Nathaniel H ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ECHOCARDIOGRAPHY; EDITORIAL; EXOME; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; TERATOLOGY;

CHILD; DEVELOPMENTAL DISABILITIES; EXOME; HUMANS; SEQUENCE ANALYSIS, DNA;

EID: 80955142687     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0b013e32834bfa5a     Document Type: Editorial

References (4)

1. Jones KL, editor. Smith's recognizable patterns of human malformation. 6th ed. Philadelphia, PA, USA: Elsevier and Saunders; 2006. p. 1.
2. Robin NH. It does matter: the importance of making the diagnosis of a genetic syndrome. Curr Opin Pediatr 2006; 18:595-597. (Pubitemid 44747150)
3. Bick D, Dimmock D. Whole exome and whole genome sequencing. Curr Opin Pediatr 2011. [Epub ahead of print]
4. Shearer AE, DeLuca AP, Hildebrand MS, et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci USA 2010; 107:21104-21109.