Concepedia

Gina O’Grady

GO

Statistics

Publications

22

Citations

2.3K

H-Index

20

Active since

2014

Affiliations

The University of Sydney(Current)

Children's Hospital at Westmead

Massachusetts General Hospital

Murdoch Children's Research Institute

Broad Institute

Gina O’Grady is an author at The University of Sydney specializing in genetics, molecular genetics, and life sciences.

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 · 806 citations · Full text

, , +17

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

Roula Ghaoui, Sandra T. Cooper, Monkol Lek et al. · JAMA Neurology · 2015 · 201 citations

, , +17

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 · 172 citations

, , +12

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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