Edward V. Ball - Publications, H-index & Citations

Edward V. Ball

Cardiff University

27H指数

58论文数

3.3W被引数

收录论文 21

发表时间

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections

HUMAN GENETICS

IF3.6

2022-11-07

OAAI

Fan, Cong; Chen, Ken; Wang, Yukai; Ball, Edward, V; Stenson, Peter D.; Mort, Matthew; Bacolla, Albino; Kehrer-Sawatzki, Hildegard; Tainer, John A.; Cooper, David N.; Zhao, Huiying

Distinct sequence features underlie microdeletions and gross deletions in the human genome 人类基因组中微缺失和总缺失的不同序列特征

HUMAN MUTATION

IF3.7

2022-02-01

OAAI

Qi, Mengling; Stenson, Peter D.; Ball, Edward, V; Tainer, John A.; Bacolla, Albino; Kehrer-Sawatzki, Hildegard; Cooper, David N.; Zhao, Huiying

The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting

HUMAN GENETICS

IF3.6

2020-06-28

464

OAAI

Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Chapman, Molly; Evans, Katy; Azevedo, Luisa; Hayden, Matthew; Heywood, Sally; Millar, David S.; Phillips, Andrew D.; Cooper, David N.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

HUMAN GENETICS

IF3.6

2017-03-27

1.1K

OAAI

Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Evans, Katy; Hayden, Matthew; Heywood, Sally; Hussain, Michelle; Phillips, Andrew D.; Cooper, David N.

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

GENOME BIOLOGY

IF9.4

2014-01-13

137

OAAI

Mort, Matthew; Sterne-Weiler, Timothy; Li, Biao; Ball, Edward V.; Cooper, David N.; Radivojac, Predrag; Sanford, Jeremy R.; Mooney, Sean D.

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

HUMAN GENETICS

IF3.6

2013-09-28

1.2K

OAAI

Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Shaw, Katy; Phillips, Andrew D.; Cooper, David N.

Guanine Holes Are Prominent Targets for Mutation in Cancer and Inherited Disease

PLOS GENETICS

IF3.7

2013-09-26

OAAI

Bacolla, Albino; Temiz, Nuri A.; Yi, Ming; Ivanic, Joseph; Cer, Regina Z.; Donohue, Duncan E.; Ball, Edward V.; Mudunuri, Uma S.; Wang, Guliang; Jain, Aklank; Volfovsky, Natalia; Luke, Brian T.; Stephens, Robert M.; Cooper, David N.; Collins, Jack R.; Vasquez, Karen M.

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2012-12-01

235

OAAI

Xue, Yali; Chen, Yuan; Ayub, Qasim; Huang, Ni; Ball, Edward V.; Mort, Matthew; Phillips, Andrew D.; Shaw, Katy; Stenson, Peter D.; Cooper, David N.; Tyler-Smith, Chris

Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques 食蟹猴和中国恒河猴两种非人灵长类动物模型的基因组测序和比较

NATURE BIOTECHNOLOGY

IF41.7

2011-10-16

233

OAAI

Yan, Guangmei; Zhang, Guojie; Fang, Xiaodong; Zhang, Yanfeng; Li, Cai; Ling, Fei; Cooper, David N.; Li, Qiye; Li, Yan; van Gool, Alain J.; Du, Hongli; Chen, Jiesi; Chen, Ronghua; Zhang, Pei; Huang, Zhiyong; Thompson, John R.; Meng, Yuhuan; Bai, Yinqi; Wang, Jufang; Zhuo, Min; Wang, Tao; Huang, Ying; Wei, Liqiong; Li, Jianwen; Wang, Zhiwen; Hu, Haofu; Yang, Pengcheng; Le, Liang; Stenson, Peter D.; Li, Bo; Liu, Xiaoming; Ball, Edward V.; An, Na; Huang, Quanfei; Zhang, Yong; Fan, Wei; Zhang, Xiuqing; Li, Yingrui; Wang, Wen; Katze, Michael G.; Su, Bing; Nielsen, Rasmus; Yang, Huanming; Wang, Jun; Wang, Xiaoning; Wang, Jian

The functional spectrum of low-frequency coding variation

GENOME BIOLOGY

IF9.4

2011-09-14

176

OAAI

Marth, Gabor T.; Yu, Fuli; Indap, Amit R.; Garimella, Kiran; Gravel, Simon; Leong, Wen Fung; Tyler-Smith, Chris; Bainbridge, Matthew; Blackwell, Tom; Zheng-Bradley, Xiangqun; Chen, Yuan; Challis, Danny; Clarke, Laura; Ball, Edward V.; Cibulskis, Kristian; Cooper, David N.; Fulton, Bob; Hartl, Chris; Koboldt, Dan; Muzny, Donna; Smith, Richard; Sougnez, Carrie; Stewart, Chip; Ward, Alistair; Yu, Jin; Xue, Yali; Altshuler, David; Bustamante, Carlos D.; Clark, Andrew G.; Daly, Mark; DePristo, Mark; Flicek, Paul; Gabriel, Stacey; Mardis, Elaine; Palotie, Aarno; Gibbs, Richard

Single Base-Pair Substitutions at the Translation Initiation Sites of Human Genes as a Cause of Inherited Disease 人类基因翻译起始位点的单碱基对取代是遗传性疾病的原因

HUMAN MUTATION

IF3.7

2011-09-08

OAAI

Wolf, Andreas; Caliebe, Amke; Thomas, Nick S. T.; Ball, Edward V.; Mort, Matthew; Stenson, Peter D.; Krawczak, Michael; Cooper, David N.

Triangulation of the Human, Chimpanzee, and Neanderthal Genome Sequences Identifies Potentially Compensated Mutations

HUMAN MUTATION

IF3.7

2010-11-09

OAAI

Zhang, Guojie; Pei, Zhang; Krawczak, Michael; Ball, Edward V.; Mort, Matthew; Kehrer-Sawatzki, Hildegard; Cooper, David N.

Genes, Mutations, and Human Inherited Disease at the Dawn of the Age of Personalized Genomics

HUMAN MUTATION

IF3.7

2010-04-13

139

OAAI

Cooper, David N.; Chen, Jian-Min; Ball, Edward V.; Howells, Katy; Mort, Matthew; Phillips, Andrew D.; Chuzhanova, Nadia; Krawczak, Michael; Kehrer-Sawatzki, Hildegard; Stenson, Peter D.

The Human Gene Mutation Database: 2008 update

GENOME MEDICINE

IF11.2

2009-01-22

786

OAAI

Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Howells, Katy; Phillips, Andrew D.; Thomas, Nick S. T.; Cooper, David N.

Microdeletions and microinsertions causing human genetic disease: Common mechanisms of mutagenesis and the role of local DNA sequence complexity

HUMAN MUTATION

IF3.7

2005-09-01

140