Concepedia

Emily C. Oates

EC

Statistics

Publications

26

Citations

2.5K

H-Index

21

Active since

2010

Affiliations

Children's Hospital at Westmead(Current)

The University of Sydney

Murdoch Children's Research Institute

UNSW Sydney

University College London

Emily C. Oates is an author at Children's Hospital at Westmead specializing in molecular genetics, genetics, and medical genetics.

ORCID

Publications per year

2010–2024

26

Publications

26

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 806 citations · Full text

, , +17

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 · 192 citations · Full text

, , +10

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 · 180 citations · Full text

, , +15

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 164 citations · Full text

, , +13

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2016 · 150 citations · Full text

, , +17

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