Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions

JAMA Pediatrics

Volumn 171, Issue 9, 2017, Pages 855-862

  Tan, Tiong Yang ^a,b,c   Dillon, Oliver James ^c   Stark, Zornitza ^a,b   Schofield, Deborah ^b,d,e   Alam, Khurshid ^b,c   Shrestha, Rupendra ^d   Chong, Belinda ^a   Phelan, Dean ^a   Brett, Gemma R ^a,b,f   Creed, Emma ^a,b,f   Jarmolowicz, Anna ^a,b,f   Yap, Patrick ^a,b   Walsh, Maie ^a,b   Downie, Lilian ^a,b   Amor, David J ^a,b,c   Savarirayan, Ravi ^a,b,c   McGillivray, George ^a,b   Yeung, Alison ^a,b   Peters, Heidi ^c,g   Robertson, Susan J ^b,g   Robinson, Aaron J ^g   Macciocca, Ivan ^a,b   Sadedin, Simon ^b   Bell, Katrina ^b   Oshlack, Alicia ^b,c   Georgeson, Peter ^h   Thorne, Natalie ^h   Gaff, Clara ^c,f,h   White, Susan M ^a,b,c   more..

^a Victorian Clinical Genetics Service   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^f Melbourne Genomics Health Alliance   (Australia)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BODY DYSMORPHIC DISORDER; CHILD; CONSULTATION; CONTROLLED STUDY; COST CONTROL; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC VALUE; FEMALE; FETUS ECHOGRAPHY; FRAGILE X SYNDROME; GENE MUTATION; GENERAL ANESTHESIA; HEALTH CARE COST; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MEDICAL GENETICS; MOLECULAR DIAGNOSIS; MONOGENIC DISORDER; OUTCOME ASSESSMENT; OUTPATIENT; PHENOTYPE; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL PERIOD; PRIORITY JOURNAL; PROSPECTIVE STUDY; WHOLE EXOME SEQUENCING; X CHROMOSOME RECESSIVE INHERITANCE; AUSTRALIA; COST BENEFIT ANALYSIS; DNA SEQUENCE; ECONOMICS; EXOME; GENETIC DISEASES, INBORN; GENETICS; MUTATION; PRESCHOOL CHILD; PROCEDURES;

AUSTRALIA; CHILD; CHILD, PRESCHOOL; COST-BENEFIT ANALYSIS; EXOME; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MALE; MUTATION; PROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA;

EID: 85028976129     PISSN: 21686203     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamapediatrics.2017.1755     Document Type: Article

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