Literature DB >> 18245393

Human Gene Mutation Database: towards a comprehensive central mutation database.

P D Stenson, E Ball, K Howells, A Phillips, M Mort, D N Cooper.   

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Year:  2008        PMID: 18245393     DOI: 10.1136/jmg.2007.055210

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  43 in total

Review 1.  Human genotype-phenotype databases: aims, challenges and opportunities.

Authors:  Anthony J Brookes; Peter N Robinson
Journal:  Nat Rev Genet       Date:  2015-11-10       Impact factor: 53.242

2.  Impact of disease-Linked mutations targeting the oligomerization interfaces of aldehyde dehydrogenase 7A1.

Authors:  David A Korasick; John J Tanner; Michael T Henzl
Journal:  Chem Biol Interact       Date:  2017-01-10       Impact factor: 5.192

3.  Loss of exon identity is a common mechanism of human inherited disease.

Authors:  Timothy Sterne-Weiler; Jonathan Howard; Matthew Mort; David N Cooper; Jeremy R Sanford
Journal:  Genome Res       Date:  2011-07-12       Impact factor: 9.043

4.  Next generation tools for the annotation of human SNPs.

Authors:  Rachel Karchin
Journal:  Brief Bioinform       Date:  2009-01       Impact factor: 11.622

Review 5.  Leveraging Online Resources to Prioritize Candidate Genes for Functional Analyses: Using the Fetal Testis as a Test Case.

Authors:  Kathryn S McClelland; Humphrey H-C Yao
Journal:  Sex Dev       Date:  2017-02-15       Impact factor: 1.824

6.  Predictable and precise template-free CRISPR editing of pathogenic variants.

Authors:  Max W Shen; Mandana Arbab; Jonathan Y Hsu; Daniel Worstell; Sannie J Culbertson; Olga Krabbe; Christopher A Cassa; David R Liu; David K Gifford; Richard I Sherwood
Journal:  Nature       Date:  2018-11-07       Impact factor: 49.962

7.  The solution structure of DNA-free Pax-8 paired box domain accounts for redox regulation of transcriptional activity in the pax protein family.

Authors:  Luca Codutti; Hugo van Ingen; Carlo Vascotto; Federico Fogolari; Alessandra Corazza; Gianluca Tell; Franco Quadrifoglio; Paolo Viglino; Rolf Boelens; Gennaro Esposito
Journal:  J Biol Chem       Date:  2008-09-30       Impact factor: 5.157

8.  Improved mutation tagging with gene identifiers applied to membrane protein stability prediction.

Authors:  Rainer Winnenburg; Conrad Plake; Michael Schroeder
Journal:  BMC Bioinformatics       Date:  2009-08-27       Impact factor: 3.169

Review 9.  Analytical methods for inferring functional effects of single base pair substitutions in human cancers.

Authors:  William Lee; Peng Yue; Zemin Zhang
Journal:  Hum Genet       Date:  2009-05-12       Impact factor: 4.132

10.  Correlating protein function and stability through the analysis of single amino acid substitutions.

Authors:  Yana Bromberg; Burkhard Rost
Journal:  BMC Bioinformatics       Date:  2009-08-27       Impact factor: 3.169

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