Use of exome sequencing for infants in intensive care units ascertainment of severe single-gene disorders and effect on medical management

JAMA Pediatrics

Volumn 171, Issue 12, 2017, Pages

  Meng, Linyan ^a,b   Pammi, Mohan ^a   Saronwala, Anirudh ^a   Magoulas, Pilar ^a,c   Ghazi, Andrew Ray ^a   Vetrini, Francesco ^b   Zhang, Jing ^b   He, Weimin ^b   Dharmadhikari, Avinash V ^b   Qu, Chunjing ^b   Ward, Patricia ^a,b   Braxton, Alicia ^a,b   Narayanan, Swetha ^a,b   Ge, Xiaoyan ^a   Tokita, Mari J ^a   Santiago Sim, Teresa ^a   Dai, Hongzheng ^a   Chiang, Theodore ^a   Smith, Hadley ^a   Azamian, Mahshid S ^a   Robak, Laurie ^a   Bostwick, Bret L ^a,c   Schaaf, Christian P ^a,c   Potocki, Lorraine ^a,c   Scaglia, Fernando ^a,c   Bacino, Carlos A ^a,c   Hanchard, Neil A ^a,c   Wangler, Michael F ^a,c   Scott, Daryl ^a,c   Brown, Chester ^d   Hu, Jianhong ^a   Belmont, John W ^a   Burrage, Lindsay C ^a,c   Graham, Brett H ^a   Sutton, Vernon Reid ^a,c   Craigen, William J ^a,c   Plon, Sharon E ^a,c   Lupski, James R ^a,c   Beaudet, Arthur L ^e   Gibbs, Richard A ^a   Muzny, Donna M ^a   Miller, Marcus J ^a,b   Wang, Xia ^a,b   Leduc, Magalie S ^a,b   Xiao, Rui ^a,b   Liu, Pengfei ^a,b   Shaw, Chad ^a   Walkiewicz, Magdalena ^a,b   Bi, Weimin ^a,b   Xia, Fan ^a,b   Lee, Brendan ^a   Eng, Christine M ^a,b   Yang, Yaping ^a,b   Lalani, Seema R ^a,b,c   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b BAYLOR GENETICS   (United States)

^c Texas Children's Hospital   (United States)

^d UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

CARGLUMIC ACID; PAMIDRONIC ACID; PROTEIN; PROTEIN DYNC1H1; PROTEIN ENPP1; PROTEIN ETFDH; PROTEIN FAT4; PROTEIN GBE1; PROTEIN KMT2C; PROTEIN OFD1; PROTEIN TRMU; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAG1 PROTEIN; RIBOFLAVIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOVASCULAR MALFORMATION; CRITICALLY ILL PATIENT; DIAGNOSTIC VALUE; DISEASE SEVERITY; FEMALE; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; INFANT; INTENSIVE CARE UNIT; MAJOR CLINICAL STUDY; MALE; MENKES SYNDROME; MOLECULAR DIAGNOSIS; NEWBORN; PRIORITY JOURNAL; RECURRENCE RISK; SINGLE NUCLEOTIDE POLYMORPHISM; TURNAROUND TIME; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; ADULT; DISEASE MANAGEMENT; EXOME; GENETICS; INFANT CARE; INTENSIVE CARE; LENGTH OF STAY; PEDIATRIC INTENSIVE CARE UNIT; PROCEDURES; RETROSPECTIVE STUDY; STATISTICS AND NUMERICAL DATA; TEXAS;

ADULT; CRITICAL CARE; DISEASE MANAGEMENT; EXOME; GENETIC COUNSELING; GENETIC DISEASES, INBORN; HUMANS; INFANT; INFANT CARE; INFANT, NEWBORN; INTENSIVE CARE UNITS, PEDIATRIC; LENGTH OF STAY; RETROSPECTIVE STUDIES; TEXAS; WHOLE EXOME SEQUENCING;

EID: 85038243250     PISSN: 21686203     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamapediatrics.2017.3438     Document Type: Article

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