Andrew D. Phillips - Publications, H-index & Citations

Andrew D. Phillips

Cardiff University

14H指数

26论文数

9.4K被引数

收录论文 9

发表时间

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.

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.

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

Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease

GENOME RESEARCH

IF5.5

2011-11-16

OAAI

Casola, Claudio; Zekonyte, Ugne; Phillips, Andrew D.; Cooper, David N.; Hahn, Matthew W.

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.

Human gene mutation database: towards a comprehensive central mutation database

JOURNAL OF MEDICAL GENETICS

IF3.7

2007-09-24

PREAI