The NSIGHT1-randomized controlled trial: Rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

npj Genomic Medicine

Volumn 3, Issue 1, 2018, Pages

  Petrikin, Josh E ^a,b,c   Cakici, Julie A ^d   Clark, Michelle M ^d   Willig, Laurel K ^a,b,c   Sweeney, Nathaly M ^d,e   Farrow, Emily G ^a,b,c   Saunders, Carol J ^a,b,c   Thiffault, Isabelle ^a,b,c   Miller, Neil A ^a   Zellmer, Lee ^a   Herd, Suzanne M ^a   Holmes, Anne M ^b   Batalov, Serge ^d   Veeraraghavan, Narayanan ^d   Smith, Laurie D ^a,c,f   Dimmock, David P ^d   Leeder, J Steven ^b,c   Kingsmore, Stephen F ^d  

^a Center for Pediatric Genomic Medicine   (United States)

^b University of Missouri ^*  (United States)

^c UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^d RADY CHILDREN S INSTITUTE FOR GENOMIC MEDICINE   (United States)

^e RADY CHILDREN'S HOSPITAL   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIRIDIA; ARTICLE; CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CHROMOSOME DUPLICATION; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONTROLLED STUDY; CRITICALLY ILL PATIENT; DE LANGE SYNDROME; DIABETES MELLITUS; FEMALE; FOLLOW UP; FRONTAL LOBE EPILEPSY; GENETIC DISORDER; HUMAN; HYPEREKPLEXIA; INFANT; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; NAGER ACROFACIAL DYSOSTOSIS; NOONAN SYNDROME; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; RANDOMIZED CONTROLLED TRIAL (TOPIC); STOMATOCYTOSIS; WHOLE GENOME SEQUENCING; X CHROMOSOME LINKED DISORDER;

EID: 85042214139     PISSN: None     EISSN: 20567944     Source Type: Journal    
DOI: 10.1038/s41525-018-0045-8     Document Type: Article

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