Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care

Clinical Genetics

Volumn 89, Issue 3, 2016, Pages 275-284

  Sawyer, S L ^a   Hartley, T ^a   Dyment, D A ^a   Beaulieu, C L ^a   Schwartzentruber, J ^b   Smith, A ^a   Bedford, H M ^c   Bernard, G ^d   Bernier, F P ^e   Brais, B ^f   Bulman, D E ^a   Warman Chardon, J ^g   Chitayat, D ^h,i   Deladoey J ^j   Fernandez, B A ^k   Frosk, P ^l   Geraghty, M T ^a   Gerull, B ^m   Gibson, W ⁿ   Gow, R M ^a   Graham, G E ^a   Green, J S ^k   Heon, E ^h   Horvath, G ⁿ   Innes, A M ^e   Jabado, N ^b   Kim, R H ^h,o   Koenekoop, R K ^p   Khan, A ^e   Lehmann, O J ^q   Mendoza Londono, R ^h   Michaud, J L ^j   Nikkel, S M ^a   Penney, L S ^r   Polychronakos, C ^b   Richer, J ^a   Rouleau, G A ^f   Samuels, M E ^j   Siu, V M ^s   Suchowersky, O ^q   Tarnopolsky, M A ^t   Yoon, G ^h   Zahir, F R ⁿ   Majewski, J ^b   Boycott, K M ^a   more..

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c NORTH YORK GENERAL HOSPITAL   (Canada)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

^e UNIVERSITY OF CALGARY   (Canada)

^f MCGILL UNIVERSITY   (Canada)

^g UNIVERSITY OF OTTAWA   (Canada)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ MOUNT SINAI HOSPITAL   (Canada)

^j UNIVERSITY OF MONTREAL   (Canada)

^k MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^l UNIVERSITY OF MANITOBA   (Canada)

^m UNIVERSITY OF CALGARY   (Canada)

ⁿ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^o UNIVERSITY OF TORONTO   (Canada)

^p MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^q UNIVERSITY OF ALBERTA   (Canada)

^r IWK HEALTH CENTRE   (Canada)

^s UNIVERSITY OF WESTERN ONTARIO   (Canada)

^t MCMASTER UNIVERSITY   (Canada)

more..

Author keywords

Clinical exome; FORGE Canada Consortium; Rare diseases; Whole exome sequencing

Indexed keywords

CANADA; DIAGNOSTIC VALUE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; NEXT GENERATION SEQUENCING; PATIENT CARE; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; REVIEW; WHOLE EXOME SEQUENCING; CHILD; CLINICAL TRIAL; DNA SEQUENCE; EXOME; GENE; GENETIC DISEASES, INBORN; GENETICS; HIGH THROUGHPUT SEQUENCING; MULTICENTER STUDY; MUTATION;

CANADA; CHILD; EXOME; GENES; GENETIC DISEASES, INBORN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84958105945     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12654     Document Type: Review

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