Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine-Reference-Cited by-同舟云学术

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Published:2016-01-13 Issue:1 Volume:1 Page:
ISSN:2056-7944
Container-title:npj Genomic Medicine
language:en
Short-container-title:npj Genomic Med

Author:

Stavropoulos Dimitri J,Merico Daniele,Jobling Rebekah,Bowdin Sarah,Monfared Nasim,Thiruvahindrapuram Bhooma,Nalpathamkalam Thomas,Pellecchia Giovanna,Yuen Ryan K C,Szego Michael J,Hayeems Robin Z,Shaul Randi Zlotnik,Brudno Michael,Girdea Marta,Frey Brendan,Alipanahi Babak,Ahmed Sohnee,Babul-Hirji Riyana,Porras Ramses Badilla,Carter Melissa T,Chad Lauren,Chaudhry Ayeshah,Chitayat David,Doust Soghra Jougheh,Cytrynbaum Cheryl,Dupuis Lucie,Ejaz Resham,Fishman Leona,Guerin Andrea,Hashemi Bita,Helal Mayada,Hewson Stacy,Inbar-Feigenberg Michal,Kannu Peter,Karp Natalya,Kim Raymond H,Kronick Jonathan,Liston Eriskay,MacDonald Heather,Mercimek-Mahmutoglu Saadet,Mendoza-Londono Roberto,Nasr Enas,Nimmo Graeme,Parkinson Nicole,Quercia Nada,Raiman Julian,Roifman Maian,Schulze Andreas,Shugar Andrea,Shuman Cheryl,Sinajon Pierre,Siriwardena Komudi,Weksberg Rosanna,Yoon Grace,Carew Chris,Erickson Raith,Leach Richard A,Klein Robert,Ray Peter N,Meyn M Stephen,Scherer Stephen W,Cohn Ronald D,Marshall Christian R

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/npjgenmed201512.pdf

Reference46 articles.

1. Liu, L. et al. Global, regional, and national causes of child mortality in 2000-13, with projections to inform post-2015 priorities: an updated systematic analysis. Lancet 385, 430–440 (2015).

2. Shevell, M. et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 60, 367–380 (2003).

3. McCandless, S. E., Brunger, J. W. & Cassidy, S. B. The burden of genetic disease on inpatient care in a children's hospital. Am. J. Hum. Genet. 74, 121–127 (2004).

4. Hall, J. G. The impact of birth defects and genetic diseases. Arch. Pediatr. Adolesc. Med. 151, 1082–1083 (1997).

5. Coulter, M. E. et al. Chromosomal microarray testing influences medical management. Genet. Med. 13, 770–776 (2011).

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