G
Gina L. O’Grady
Researcher at Children's Hospital at Westmead
Publications - 7
Citations - 777
Gina L. O’Grady is an academic researcher from Children's Hospital at Westmead. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 6, co-authored 7 publications receiving 482 citations. Previous affiliations of Gina L. O’Grady include University of Sydney & Auckland City Hospital.
Papers
More filters
Journal ArticleDOI
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B. Cummings,Beryl B. Cummings,Jamie L. Marshall,Jamie L. Marshall,Taru Tukiainen,Taru Tukiainen,Monkol Lek,Sandra Donkervoort,A. Reghan Foley,Véronique Bolduc,Leigh B. Waddell,Leigh B. Waddell,Sarah A. Sandaradura,Sarah A. Sandaradura,Gina L. O’Grady,Gina L. O’Grady,Elicia Estrella,Hemakumar M. Reddy,Fengmei Zhao,Fengmei Zhao,Ben Weisburd,Ben Weisburd,Konrad J. Karczewski,Konrad J. Karczewski,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Daniel P. Birnbaum,Daniel P. Birnbaum,Anna Sarkozy,Ying Hu,Hernan Gonorazky,Kristl G. Claeys,Himanshu Joshi,Adam Bournazos,Adam Bournazos,Emily C. Oates,Emily C. Oates,Roula Ghaoui,Roula Ghaoui,Mark R. Davis,Nigel G. Laing,Ana Töpf,Peter B. Kang,Peter B. Kang,Alan H. Beggs,Kathryn N. North,Volker Straub,James J. Dowling,Francesco Muntoni,Nigel F. Clarke,Nigel F. Clarke,Sandra T. Cooper,Sandra T. Cooper,Carsten G. Bönnemann,Daniel G. MacArthur,Daniel G. MacArthur +55 more
TL;DR: This study represents a large systematic application of transcriptome sequencing to rare disease diagnosis and highlights its utility for the detection and interpretation of variants missed by current standard diagnostic approaches.
Posted ContentDOI
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B. Cummings,Jamie L. Marshall,Taru Tukiainen,Monkol Lek,Sandra Donkervoort,A. Reghan Foley,Véronique Bolduc,Leigh B. Waddell,Leigh B. Waddell,Sarah A. Sandaradura,Sarah A. Sandaradura,Gina L. O’Grady,Gina L. O’Grady,Elicia Estrella,Hemakumar M. Reddy,Fengmei Zhao,Ben Weisburd,Konrad J. Karczewski,Anne H. O’Donnell-Luria,Daniel P. Birnbaum,Anna Sarkozy,Ying Hu,Hernan Gonorazky,Kristl G. Claeys,Himanshu Joshi,Adam Bournazos,Adam Bournazos,Emily C. Oates,Emily C. Oates,Roula Ghaoui,Roula Ghaoui,Mark R. Davis,Nigel G. Laing,Ana Töpf,Alan H. Beggs,Peter B. Kang,Kathryn N. North,Volker Straub,James J. Dowling,Francesco Muntoni,Nigel F. Clarke,Nigel F. Clarke,Sandra T. Cooper,Sandra T. Cooper,Carsten G. Bönnemann,Daniel G. MacArthur +45 more
TL;DR: This study represents a large systematic application of transcriptome sequencing to rare disease diagnosis and highlights its utility for the detection and interpretation of variants missed by current standard diagnostic approaches.
Journal ArticleDOI
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Nadja Mingirulli,Angela Pyle,Denisa Hathazi,Charlotte L. Alston,Nicolai Kohlschmidt,Gina L. O’Grady,Leigh B. Waddell,Frances J. Evesson,Frances J. Evesson,Sandra T. Cooper,Sandra T. Cooper,Christian Turner,Christian Turner,Jennifer Duff,Ana Töpf,Delia Yubero,Cristina Jou,Andrés Nascimento,Carlos Ortez,Angels García-Cazorla,Claudia Gross,Maria del Mar O’Callaghan,Saikat Santra,M. A. Preece,Michael Champion,Sergei Korenev,Efsthatia Chronopoulou,Majumdar Anirban,Germaine Pierre,Daniel McArthur,Daniel McArthur,Kyle Thompson,Plácido Navas,Antonia Ribes,Frederic Tort,Agatha Schlüter,Aurora Pujol,Raquel Montero,Georgia Sarquella,Hanns Lochmüller,Hanns Lochmüller,Hanns Lochmüller,Cecilia Jimenez-Mallebrera,Robert W. Taylor,Rafael Artuch,Janbernd Kirschner,Sarah C. Grünert,Andreas Roos,Andreas Roos,Rita Horvath,Rita Horvath +50 more
TL;DR: A combined defect of the respiratory chain enzymes and CoQ10 with altered levels of several membrane proteins provides molecular insights into the underlying pathophysiology and may guide rational new therapeutic interventions.
Journal ArticleDOI
Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study.
Alice Theadom,Richard Roxburgh,Erin MacAulay,Gina L. O’Grady,Joshua Burns,Priya Parmar,Kelly Jones,Miriam Rodrigues,Miriam Rodrigues +8 more
TL;DR: A small but significant proportion of people with CMT are not connected to healthcare services, and further studies using population-based methods and reporting age-standardised prevalence are needed to improve global understanding of the epidemiology of CMT.
Journal ArticleDOI
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Jaya Punetha,Akanchha Kesari,Prech Uapinyoying,Prech Uapinyoying,Mamta Giri,Nigel F. Clarke,Leigh B. Waddell,Kathryn N. North,Kathryn N. North,Roula Ghaoui,Gina L. O’Grady,Emily C. Oates,Sarah A. Sandaradura,Carsten G. Bönnemann,Sandra Donkervoort,Paul H. Plotz,Edward C. Smith,Carolina Tesi-Rocha,Tulio E. Bertorini,Mark A. Tarnopolsky,Bernd Reitter,Irena Hausmanowa-Petrusewicz,Eric P. Hoffman,Eric P. Hoffman +23 more
TL;DR: Exome sequencing is recommended as the standard approach for molecular diagnostics of myopathies given that costs of highly parallel re-sequencing and whole exome sequencing are similar, and that it takes considerably less laboratory processing time than targeted re- sequencing.