PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases-Reference-Cited by-同舟云学术

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PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases

Published:2018-09 Issue:3 Volume:103 Page:389-399
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Fujiwara Toyofumi,Yamamoto Yasunori,Kim Jin-Dong,Buske Orion,Takagi Toshihisa

Funder

Japan Science and Technology Agency

National Bioscience Database Center

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. Rare diseases and orphan products: Accelerating research and development,2011

2. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care;Sawyer;Clin. Genet.,2016

3. Precision medicine for continuing phenotype expansion of human genetic diseases;Yu;BioMed Res. Int.,2015

4. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N. Engl. J. Med.,2013

5. Exome and genome sequencing: A revolution for the discovery and diagnosis of monogenic disorders;Stranneheim;J. Intern. Med.,2016

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