Search Results - "Howells, Katy"

The Human Gene Mutation Database: 2008 update by Stenson, Peter D, Mort, Matthew, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Thomas, Nick St, Cooper, David N

“…The Human Gene Mutation Database (HGMD((R))) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with…”
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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics by 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 number of reported germline mutations in human nuclear genes, either underlying or associated with inherited disease, has now exceeded 100,000 in more than…”
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The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics by Stenson, Peter D, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Mort, Matthew, Cooper, David N

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Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes by Bacolla, Albino, Zhu, Xiao, Chen, Hanning, Howells, Katy, Cooper, David N, Vasquez, Karen M

“…Single base substitutions (SBSs) and insertions/deletions are critical for generating population diversity and can lead both to inherited disease and cancer…”
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