Cheryl Shuman

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Human Chromosome 7: DNA Sequence and Biology

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald et al. · Science · 2003 · 214 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae

Lin Guo, Sanaa Choufani, José Carlos Ferreira et al. · Developmental Biology · 2008 · 163 citations

Life Sciences, Genetics, Molecular Genetics +17

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Gregory Costain, Rebekah Jobling, Susan Walker et al. · European Journal of Human Genetics · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16