Clinical whole-exome sequencing for the diagnosis of mendelian disorders

New England Journal of Medicine

Volumn 369, Issue 16, 2013, Pages 1502-1511

  Yang, Yaping ^a   Muzny, Donna M ^a   Reid, Jeffrey G ^a   Bainbridge, Matthew N ^a   Willis, Alecia ^a   Ward, Patricia A ^a   Braxton, Alicia ^a   Beuten, Joke ^a   Xia, Fan ^a   Niu, Zhiyv ^a   Hardison, Matthew ^a   Person, Richard ^a   Bekheirnia, Mir Reza ^a   Leduc, Magalie S ^a   Kirby, Amelia ^a   Pham, Peter ^a   Scull, Jennifer ^a   Wang, Min ^a   Ding, Yan ^a   Plon, Sharon E ^a   Lupski, James R ^a   Beaudet, Arthur L ^a   Gibbs, Richard A ^a   Eng, Christine M ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL GENETICS; EXOME; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HUMAN GENOME; INCIDENTAL FINDING; INSURANCE; MEDICAL HISTORY; MENDELIAN DISORDER; MOLECULAR DIAGNOSIS; MUTANT; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROCESS DEVELOPMENT; SEQUENCE ANALYSIS; VALIDATION PROCESS; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER;

EID: 84885785987     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1306555     Document Type: Article

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