Emily C. Oates

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C. Oates, Alexander M. Rossor, Majid Hafezparast et al. · The American Journal of Human Genetics · 2013 · 188 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

Evelyn N. Kouwenhoven, Simon J. van Heeringen, Juan J. Tena et al. · PLoS Genetics · 2010 · 177 citations · Full text

Genetics, Shfm1 Locus, Genomic Mechanism +19

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 152 citations · Full text

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · 2016 · 150 citations · Full text

Genetics, Pathology, Disease Gene Identification +16