Literature DB >> 8882888

Human Gene Mutation Database.

D N Cooper, M Krawczak.   

Abstract

Entities:  

Mesh：

Year:  1996        PMID： 8882888     DOI： 10.1007/s004390050272

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


× No keyword cloud information.
  11 in total

1.  Dynamism in gene expression across multiple studies.

Authors:  Alexander A Morgan; Joel T Dudley; Tarangini Deshpande; Atul J Butte
Journal:  Physiol Genomics       Date:  2009-11-17       Impact factor: 3.107

2.  Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity.

Authors:  D M Otterness; C L Szumlanski; T C Wood; R M Weinshilboum
Journal:  J Clin Invest       Date:  1998-03-01       Impact factor: 14.808

3.  Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.

Authors:  Binghuang Cai; Biao Li; Nikki Kiga; Janita Thusberg; Timothy Bergquist; Yun-Ching Chen; Noushin Niknafs; Hannah Carter; Collin Tokheim; Violeta Beleva-Guthrie; Christopher Douville; Rohit Bhattacharya; Hui Ting Grace Yeo; Jean Fan; Sohini Sengupta; Dewey Kim; Melissa Cline; Tychele Turner; Mark Diekhans; Jan Zaucha; Lipika R Pal; Chen Cao; Chen-Hsin Yu; Yizhou Yin; Marco Carraro; Manuel Giollo; Carlo Ferrari; Emanuela Leonardi; Silvio C E Tosatto; Jason Bobe; Madeleine Ball; Roger A Hoskins; Susanna Repo; George Church; Steven E Brenner; John Moult; Julian Gough; Mario Stanke; Rachel Karchin; Sean D Mooney
Journal:  Hum Mutat       Date:  2017-06-19       Impact factor: 4.878

4.  SNP@Ethnos: a database of ethnically variant single-nucleotide polymorphisms.

Authors:  Jungsun Park; Sohyun Hwang; Yong Seok Lee; Sang-Cheol Kim; Doheon Lee
Journal:  Nucleic Acids Res       Date:  2006-11-28       Impact factor: 16.971

5.  ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

Authors:  Xiaoling Yang; Hua Gao; Jie Zhang; Xiaojing Xu; Xiaoyan Liu; Xiru Wu; Liping Wei; Yuehua Zhang
Journal:  PLoS One       Date:  2014-05-19       Impact factor: 3.240

6.  Whole-genome sequencing of the world's oldest people.

Authors:  Hinco J Gierman; Kristen Fortney; Jared C Roach; Natalie S Coles; Hong Li; Gustavo Glusman; Glenn J Markov; Justin D Smith; Leroy Hood; L Stephen Coles; Stuart K Kim
Journal:  PLoS One       Date:  2014-11-12       Impact factor: 3.240

7.  A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

Authors:  Marta Martín-Sánchez; Nereida Bravo-Gil; María González-Del Pozo; Cristina Méndez-Vidal; Elena Fernández-Suárez; Enrique Rodríguez-de la Rúa; Salud Borrego; Guillermo Antiñolo
Journal:  Int J Mol Sci       Date:  2020-12-08       Impact factor: 5.923

8.  Exhaustive prediction of disease susceptibility to coding base changes in the human genome.

Authors:  Vinayak Kulkarni; Mounir Errami; Robert Barber; Harold R Garner
Journal:  BMC Bioinformatics       Date:  2008-08-12       Impact factor: 3.169

9.  Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Authors:  Aenne S Thormaehlen; Christian Schuberth; Hong-Hee Won; Peter Blattmann; Brigitte Joggerst-Thomalla; Susanne Theiss; Rosanna Asselta; Stefano Duga; Pier Angelica Merlini; Diego Ardissino; Eric S Lander; Stacey Gabriel; Daniel J Rader; Gina M Peloso; Rainer Pepperkok; Sekar Kathiresan; Heiko Runz
Journal:  PLoS Genet       Date:  2015-02-03       Impact factor: 5.917

10.  Computational resources associating diseases with genotypes, phenotypes and exposures.

Authors:  Wenliang Zhang; Haiyue Zhang; Huan Yang; Miaoxin Li; Zhi Xie; Weizhong Li
Journal:  Brief Bioinform       Date:  2019-11-27       Impact factor: 11.622
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.