Next-generation sequencing for diagnosis of Rare diseases in the neonatal intensive care unit

CMAJ

Volumn 188, Issue 11, 2016, Pages E254-E260

  Daoud, Hussein ^a   Luco, Stephanie M ^a   Li, Rui ^c,d   Bareke, Eric ^c,d   Beaulieu, Chandree ^a   Jarinova, Olga ^a   Carson, Nancy ^a   Nikkel, Sarah M ^a   Graham, Gail E ^a   Richer, Julie ^a   Armour, Christine ^a   Bulman, Dennis E ^b   Chakraborty, Pranesh ^b   Geraghty, Michael ^b   Lines, Matthew A ^a   Lacaze Masmonteil, Thierry ^b   Majewski, Jacek ^c,d   Boycott, Kym M ^a   Dyment, David A ^a  

^a Department of Genetics ^*  (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d Genome Quebec Innovation Centre   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY SYNDROME TYPE 7; BIOINFORMATICS; CENTRONUCLEAR MYOPATHY; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL MYASTHENIC SYNDROME; CRANIOECTODERMAL DYSPLASIA; DENYS DRASH SYNDROME; DNA DETERMINATION; FEASIBILITY STUDY; FEMALE; FTO DEFICIENCY SYNDROME; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; KIDNEY DISEASE; MALE; MEDICAL DECISION MAKING; MEDICAL PRACTICE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN INTENSIVE CARE; NEXT GENERATION SEQUENCING; PATIENT CARE; PILOT STUDY; RARE DISEASE; RENAL TUBULAR DYSGENESIS; RETROSPECTIVE STUDY; SCN1A RELATED ENCEPHALOPATHY SYNDROME; GENETIC ASSOCIATION STUDY; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; NEONATAL INTENSIVE CARE UNIT; ONTARIO; PROCEDURES; PROSPECTIVE STUDY; RARE DISEASES;

FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT, NEWBORN; INTENSIVE CARE UNITS, NEONATAL; MALE; MUTATION; ONTARIO; PILOT PROJECTS; PROSPECTIVE STUDIES; RARE DISEASES; RETROSPECTIVE STUDIES;

EID: 85016431907     PISSN: 08203946     EISSN: 14882329     Source Type: Journal    
DOI: 10.1503/cmaj.150823     Document Type: Article

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