David Neil Cooper - Genetic Mutations

Author Information

David Neil Cooper is a distinguished researcher associated with the Institute of Medical Genetics at Cardiff University in the United Kingdom. His work primarily focuses on the genetic underpinnings of various diseases, with a particular emphasis on pancreatitis. The affiliation indicates his active involvement in medical genetics research, contributing extensively to our understanding of genetic disorders.

Research Contributions

David Neil Cooper has made significant contributions to the field of genetics, with a focus on genetic factors influencing pancreatitis and other hereditary conditions. His recent publications explore topics such as gene dosage effects on pancreatitis risk, the pathogenicity of missense variants, and challenges in diagnosing genetic disorders like neurofibromatosis type 1. Cooper's work also includes advancing tools for genetic variant interpretation, such as MutationTaster2021, which aids in predicting the clinical consequences of genetic mutations.

Aliases

Throughout his career, David Neil Cooper has been referenced by various aliases, including D.n. Cooper, David Cooper, D. N. Cooper, and David N. W. Cooper, among others. These variations reflect the common practice in academic publishing of using different name formats.

Publication and Citation Metrics

Metric Value
Total Citation Count 44,123
h-index 98
Total Number of Papers 741

Publications:

DOI: 10.1093/nar/gkab266

Year: 2021

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