Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: A retrospective analysis of diagnostic and clinical findings

The Lancet Respiratory Medicine

Volumn 3, Issue 5, 2015, Pages 377-387

  Willig, Laurel K ^a,b   Petrikin, Josh E ^a,b   Smith, Laurie D ^a,b   Saunders, Carol J ^a,b   Thiffault, Isabelle ^a,b   Miller, Neil A ^a   Soden, Sarah E ^a   Cakici, Julie A ^a   Herd, Suzanne M ^a   Twist, Greyson ^a   Noll, Aaron ^a   Creed, Mitchell ^a   Alba, Patria M ^a,b   Carpenter, Shannon L ^a,b   Clements, Mark A ^a,b   Fischer, Ryan T ^a,b   Hays, J Allyson ^a,b   Kilbride, Howard ^a,b   McDonough, Ryan J ^a   Rosterman, Jamie L ^a   Tsai, Sarah L ^a,b   Zellmer, Lee ^a   Farrow, Emily G ^a,b   Kingsmore, Stephen F ^a,b   more..

^a CHILDREN S MERCY KANSAS CITY   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; ARTICLE; BRAIN DISEASE; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; CRITICALLY ILL PATIENT; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROTAXY SYNDROME; HUMAN; HYPERINSULINISM; INFANT; INFANT MORTALITY; KIDNEY DISEASE; LEOPARD SYNDROME; MALE; MUCOLIPIDOSIS; NEWBORN INTENSIVE CARE; NOONAN SYNDROME; PALLIATIVE THERAPY; PANCREAS DISEASE; PIERSON SYNDROME; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SKIN DISEASE; SYNDROME CHARGE; TREATMENT INDICATION; ASPIRATION PNEUMONIA; CRITICAL ILLNESS; GENETICS; GENOME-WIDE ASSOCIATION STUDY; NEONATAL INTENSIVE CARE UNIT; NEWBORN; PROCEDURES; STATISTICS AND NUMERICAL DATA;

CRITICAL ILLNESS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; INFANT, NEWBORN; INTENSIVE CARE UNITS, NEONATAL; MALE; PNEUMONIA, ASPIRATION; RETROSPECTIVE STUDIES;

EID: 84929026065     PISSN: 22132600     EISSN: 22132619     Source Type: Journal    
DOI: 10.1016/S2213-2600(15)00139-3     Document Type: Article

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