Concepedia

Gina O’Grady

GO

22

Publications

2.2K

Citations

19

H-Index

2014

Active since

Affiliations

The University of Sydney(Current)

Children's Hospital at Westmead

Massachusetts General Hospital

Broad Institute

Murdoch Children's Research Institute

Gina O’Grady is an author at The University of Sydney specializing in medicine, rare diseases, and pathology.

Top concepts

Publications per year

2014–2024

22

Publications

22

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

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

Roula Ghaoui, Sandra T. Cooper, Monkol Lek et al. · JAMA Neurology · 2015 · 195 citations

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 164 citations

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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

, , +16

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