Molecular findings among patients referred for clinical whole-exome sequencing

JAMA - Journal of the American Medical Association

Volumn 312, Issue 18, 2014, Pages 1870-1879

  Yang, Yaping ^a   Muzny, Donna M ^a   Xia, Fan ^a   Niu, Zhiyv ^a   Person, Richard ^a   Ding, Yan ^a   Ward, Patricia ^a   Braxton, Alicia ^a   Wang, Min ^a   Buhay, Christian ^a   Veeraraghavan, Narayanan ^a   Hawes, Alicia ^a   Chiang, Theodore ^a   Leduc, Magalie ^a   Beuten, Joke ^a   Zhang, Jing ^a   He, Weimin ^a   Scull, Jennifer ^a   Willis, Alecia ^a   Landsverk, Megan ^a   Craigen, William J ^a   Bekheirnia, Mir Reza ^a   Stray Pedersen, Asbjorg ^a   Liu, Pengfei ^a   Wen, Shu ^a   Alcaraz, Wendy ^a   Cui, Hong ^a   Walkiewicz, Magdalena ^a   Reid, Jeffrey ^a   Bainbridge, Matthew ^a   Patel, Ankita ^a   Boerwinkle, Eric ^a,b   Beaudet, Arthur L ^a   Lupski, James R ^a   Plon, Sharon E ^a   Gibbs, Richard A ^a   Eng, Christine M ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; CLINICAL WHOLE EXOME SEQUENCING; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE CLASSIFICATION; DISOMY; FEMALE; FETUS; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HIGH THROUGHPUT SEQUENCING; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NEXT GENERATION SEQUENCING; OBSERVATIONAL STUDY; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; DNA SEQUENCE; EXOME; GENETIC DISEASES, INBORN; GENOMICS; INCIDENTAL FINDING; MUTATION; NEWBORN; PATIENT REFERRAL; PROCEDURES;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; FETUS; GENETIC DISEASES, INBORN; GENETIC TESTING; GENOMICS; HUMANS; INCIDENTAL FINDINGS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PHENOTYPE; REFERRAL AND CONSULTATION; SEQUENCE ANALYSIS, DNA;

EID: 84918771753     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2014.14601     Document Type: Article

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