Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Human Mutation

Volumn 35, Issue 1, 2014, Pages 45-49

  Sawyer, Sarah L ^a   Schwartzentruber, Jeremy ^b   Beaulieu, Chandree L ^a   Dyment, David ^a   Smith, Amanda ^a   Chardon, Jodi Warman ^a   Yoon, Grace ^c   Rouleau, Guy A ^d   Suchowersky, Oksana ^e   Siu, Victoria ^f   Murphy, Lisa ^f   Hegele, Robert A ^g   Marshall, Christian R ^c   Bulman, Dennis E ^a   Majewski, Jacek ^b   Tarnopolsky, Mark ^h   Boycott, Kym M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY OF ALBERTA   (Canada)

^f UNIVERSITY OF WESTERN ONTARIO   (Canada)

^g ROBARTS RESEARCH INSTITUTE   (Canada)

^h MCMASTER CHILDREN S HOSPITAL   (Canada)

Author keywords

Ataxia; Clinical diagnosis; Whole exome sequencing

Indexed keywords

ARTICLE; ATAXIA; CANADA; CONTROLLED STUDY; DIAGNOSTIC VALUE; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; WHOLE EXOME SEQUENCING;

CANADA; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; EXOME; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA;

EID: 84890799675     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22451     Document Type: Article

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