Philip Smith

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly et al. · The American Journal of Human Genetics · 2011 · 181 citations · Full text

Chromatin, Say-barber-biesecker Variant, Whole-exome-sequencing Identifies Mutations +8

Arabidopsis consensus intron sequences

John W. Brown, Philip Smith, Craig G. Simpson · Plant Molecular Biology · 1996 · 121 citations

Biology, Plant Molecular Biology, Plant Genetics +5

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

D. Gareth Evans, Claire Hartley, Philip Smith et al. · Genetics in Medicine · 2019 · 98 citations · Full text

Mutation of putative branchpoint consensus sequences in plant introns reduces splicing efficiency

Craig G. Simpson, Gillian P. Clark, Diane Davidson et al. · The Plant Journal · 1996 · 62 citations · Full text

Plant Genetics, Genetics, Rna Splicing +16

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Dhivya Chandrasekaran, Monika Sobočan, Oleg Blyuss et al. · Cancers · 2021 · 49 citations · Full text