The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Genetics in Medicine

Volumn 19, Issue 9, 2017, Pages 1040-1048

  Baldridge, Dustin ^a   Heeley, Jennifer ^a,b   Vineyard, Marisa ^a   Manwaring, Linda ^a   Toler, Tomi L ^a   Fassi, Emily ^a   Fiala, Elise ^a   Brown, Sarah ^a   Goss, Charles W ^a   Willing, Marcia ^a   Grange, Dorothy K ^a   Kozel, Beth A ^a,c   Shinawi, Marwan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Mercy Children's Hospital St Louis   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

diagnostic yield; Exome Clinic; exome sequencing; genetic counseling; medical geneticist

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL EFFECTIVENESS; COHORT ANALYSIS; CONGENITAL MALFORMATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; EXOME; EXOME CLINIC; FEMALE; GENE; GENETIC VARIABILITY; HEALTH CARE COST; HOSPITAL; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL EXPERT; MEDICAL GENETICS; MENTAL DISEASE; PATERNITY; PHENOTYPE; PRESCHOOL CHILD; RETROSPECTIVE STUDY; WHOLE EXOME SEQUENCING; EXPERT WITNESS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; GENETICS; INFANT; NEWBORN; PHYSICIAN; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXOME; EXPERT TESTIMONY; FEMALE; GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC TESTING; GENETICS, MEDICAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHYSICIANS; RETROSPECTIVE STUDIES; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 85028934083     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.224     Document Type: Article

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