Clinical exome sequencing for genetic identification of rare mendelian disorders

JAMA - Journal of the American Medical Association

Volumn 312, Issue 18, 2014, Pages 1880-1887

  Lee, Hane ^a   Deignan, Joshua L ^a   Dorrani, Naghmeh ^a   Strom, Samuel P ^a   Kantarci, Sibel ^a   Quintero Rivera, Fabiola ^a   Das, Kingshuk ^a   Toy, Traci ^a   Harry, Bret ^b   Yourshaw, Michael ^a   Fox, Michelle ^a   Fogel, Brent L ^a   Martinez Agosto, Julian A ^a   Wong, Derek A ^a   Chang, Vivian Y ^a   Shieh, Perry B ^a   Palmer, Christina G S ^a   Dipple, Katrina M ^a   Grody, Wayne W ^a   Vilain, Eric ^a   Nelson, Stanley F ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; AUTISM; CANCER SUSCEPTIBILITY; CARDIOMYOPATHY; CHILD; CLINICAL EXOME SEQUENCING; CLINICAL FEATURE; COMORBIDITY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DNA EXTRACTION; EPILEPSY; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HEART ARRHYTHMIA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENDELIAN DISORDER; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; PHENOTYPE; SEIZURE; DNA SEQUENCE; EXOME; GENETIC DISEASES, INBORN; GENETICS; INFANT; MUTATION; NEWBORN; PRESCHOOL CHILD; PROCEDURES; RARE DISEASES;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GENETIC DISEASES, INBORN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; RARE DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 84918840439     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2014.14604     Document Type: Article

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