Author:
Prada Carlos E.,Gonzaga-Jauregui Claudia,Tannenbaum Rebecca,Penney Samantha,Lupski James R.,Hopkin Robert J.,Sutton V. Reid
Subject
Genetics (clinical),Genetics,General Medicine
Reference19 articles.
1. d'Azzo A, Andria G, Bonten E, Annunziata I. Online metabolic and molecular bases of inherited disease. (Chapter 152): Galactosialidosis. Published January 2006. Updated March 28, 2011. In: Valle D, editor. DOI: 10.1036/ommbid.183.
2. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome;Bainbridge;Genome Med,2013
3. Whole-genome sequencing for Optimized patient management;Bainbridge;Sci Transl Med,2011
4. Exome sequencing can improve diagnosis and Alter patient management;Dixon-Salazar;Sci Transl Med,2012
5. PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features;Hamosh;Hum Mutat,2013
Cited by
27 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献