The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

Genetics in Medicine

Volumn 16, Issue 10, 2014, Pages 736-737

  Might, Matthew ^a   Wilsey, Matt ^b  

^a Department of Electrical and Computer Engineering   (United States)

^b PO Box 74   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPEPTIDASE;

ENDOPLASMIC RETICULUM ASSOCIATED DEGRADATION; FEMALE; GENETICS; HUMAN; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATION; SIGNAL TRANSDUCTION;

ABNORMALITIES, MULTIPLE; ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION; FEMALE; HUMANS; MALE; MUTATION; PEPTIDE-N4-(N-ACETYL-BETA-GLUCOSAMINYL) ASPARAGINE AMIDASE; SIGNAL TRANSDUCTION;

EID: 84923181324     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.23     Document Type: Article

References (3)

1. Enns GM, Shashi V, Bainbridge M, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway. Genet Med 2014;this issue ( http://www.nature.com/doifinder/10.1038/gim.2014.22).
2. Need, A.C., Shashi, V., Hitomi, Y., Clinical application of exome sequencing in undiagnosed genetic conditions. 1:CAS:528:DC%2BC38Xht1Sht7fI 10.1136/jmedgenet-2012-100819 J Med Genet 49 (2012), 353–361.
3. Might M. Hunting down my son's killer. http://matt.might.net/articles/my-sons-killer/ Accessed December 25th, 2013.