scholarly journals New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

2015 ◽  
Vol 36 (4) ◽  
pp. 425-431 ◽  
Author(s):  
Nara Sobreira ◽  
François Schiettecatte ◽  
Corinne Boehm ◽  
David Valle ◽  
Ada Hamosh
Keyword(s):  
Disease Gene ◽  
Gene Identification ◽  
Mendelian Disease ◽  
Web Based ◽  
Variant Analysis

Standardized phenotyping enhances Mendelian disease gene identification

2015 ◽  
Vol 47 (11) ◽  
pp. 1222-1224 ◽  
Author(s):  
Lisenka E L M Vissers ◽  
Joris A Veltman
Keyword(s):  
Disease Gene ◽  
Gene Identification ◽  
Mendelian Disease

Exome sequencing as a tool for Mendelian disease gene discovery

2011 ◽  
Vol 12 (11) ◽  
pp. 745-755 ◽  
Author(s):  
Michael J. Bamshad ◽  
Sarah B. Ng ◽  
Abigail W. Bigham ◽  
Holly K. Tabor ◽  
Mary J. Emond ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Disease Gene ◽  
Gene Discovery ◽  
Mendelian Disease ◽  
Disease Gene Discovery

Human Gene Mapping and Disease Gene Identification

2007 ◽  
pp. 207-230
Author(s):  
Robert L. Nussbaum ◽  
Roderick R. McInnes ◽  
Huntington F. Willard ◽  
Ada Hamosh
Keyword(s):  
Gene Mapping ◽  
Disease Gene ◽  
Human Gene ◽  
Gene Identification ◽  
Human Gene Mapping

scholarly journals Disease gene identification by using graph kernels and Markov random fields

2014 ◽  
Vol 57 (11) ◽  
pp. 1054-1063 ◽  
Author(s):  
BoLin Chen ◽  
Min Li ◽  
JianXin Wang ◽  
Fang-Xiang Wu
Keyword(s):  
Random Fields ◽  
Markov Random Fields ◽  
Disease Gene ◽  
Gene Identification ◽  
Graph Kernels ◽  
Markov Random

scholarly journals An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

2018 ◽  
Vol 3 (1) ◽  
Author(s):  
Alireza Haghighi ◽  
◽  
Joel B. Krier ◽  
Agnes Toth-Petroczy ◽  
Christopher A. Cassa ◽  
...  
Keyword(s):  
Disease Gene ◽  
Gene Discovery ◽  
Genomic Sequencing ◽  
Mendelian Disease ◽  
Disease Gene Discovery ◽  
Clinical Program

scholarly journals Symptom-driven idiopathic disease gene identification

2015 ◽  
Vol 17 (11) ◽  
pp. 859-865 ◽  
Author(s):  
Bhuvan Molparia ◽  
Phillip H. Pham ◽  
Ali Torkamani
Keyword(s):  
Disease Gene ◽  
Gene Identification ◽  
Idiopathic Disease

SCO-ping Out the Mechanisms Underlying the Etiology of Hydrocephalus

Physiology ◽  
2009 ◽  
Vol 24 (2) ◽  
pp. 117-126 ◽  
Author(s):  
Michael S. Huh ◽  
Matthew A. M. Todd ◽  
David J. Picketts
Keyword(s):  
Disease Gene ◽  
Subcommissural Organ ◽  
Clinical Problem ◽  
Gene Identification ◽  
Transgenic Mouse Models ◽  
Heterogeneous Nature ◽  
And Function ◽  
Identification And Characterization ◽  
Common Clinical Problem

The heterogeneous nature of congenital hydrocephalus has hampered our understanding of the molecular basis of this common clinical problem. However, disease gene identification and characterization of multiple transgenic mouse models has highlighted the importance of the subcommissural organ (SCO) and the ventricular ependymal (vel) cells. Here, we review how altered development and function of the SCO and vel cells contributes to hydrocephalus.

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