Gina O’Grady

2.4k citations

22 papers · 480 indexed · h-index 10

Genetics top 10%
- Neurogenetic and Muscular Disorders Research 6
- Genomics and Rare Diseases 2
Neurology top 10%
- Myasthenia Gravis and Thymoma 2
- Peripheral Neuropathies and Disorders 2
Cellular and Molecular Neuroscience
- Genetic Neurodegenerative Diseases 3
Genetics
- Neurogenetic and Muscular Disorders Research 6
- Genomics and Rare Diseases 2
Cardiology and Cardiovascular Medicine
- Cardiomyopathy and Myosin Studies 5
Molecular Biology
- Muscle Physiology and Disorders 11
Pediatrics, Perinatology and Child Health
- Childhood Cancer Survivors' Quality of Life 2

Co-authors: Kathryn N. North Nigel F. Clarke Sandra T. Cooper Daniel G. MacArthur Mark R. Davis Nigel G. Laing Monkol Lek Simranpreet Kaur
Cited by: Genetics Neurology Cellular and Molecular Neuroscience
Journals: Neurology (1 paper)Annals of Neurology (1 paper)Quality of Life Research (1 paper)
Partner nations: New Zealand United States Australia

In The Last Decade

Gina O’Grady

22 papers receiving 474 citations

Peers

Countries citing papers authored by Gina O’Grady

Since Specialization

Citations

This map shows the geographic impact of Gina O’Grady's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Gina O’Grady with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Gina O’Grady more than expected).

Fields of papers citing papers by Gina O’Grady

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Gina O’Grady. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Gina O’Grady. The network helps show where Gina O’Grady may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Gina O’Grady, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Gina O’Grady Line = papers co-authored together Gina O’Grady links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Compound heterozygous splicing variants expand the genotypic spectrum of EMC1 ‐related disorders Clinical Genetics ·Samantha J. Bryen,Katharine Zhang,Gregory Dziaduch,Shobhana Bommireddipalli,Take Naseri,Muagututi‘a Sefuiva Reupena,Satupaitea Viali,Ryan L. Minster,Leigh B. Waddell,Amanda Charlton,Gina O’Grady,Frances J. Evesson,Sandra T. Cooper	2023	4
2	Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease Frontiers in Neuroscience ·Antti Tallgren,Leo Kager,Gina O’Grady,Hannu Tuominen,Jarmo Körkkö,Outi Kuismin,Martha Feucht,Callum Wilson,Jana Behunova,Eleina England,Mitja Kurki,Aarno Palotie,Mikko Hallman,Riitta Kaarteenaho,Franco Laccone,Kaan Boztuǧ,Reetta Hinttala,Johanna Uusimaa	2023	1
3	Vibration Therapy as an Early Intervention for Children Aged 2–4 Years with Cerebral Palsy: A Feasibility Study Physical & Occupational Therapy In Pediatrics ·Alena Adaikina,José G. B. Derraik,Janice A. Taylor,Gina O’Grady,Paul L. Hofman,Silmara Gusso	2023	1
4	Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome American Journal of Medical Genetics Part A ·Salam Alburaiky,Juliet Taylor,Gina O’Grady,Glen Thomson,David J. Perry,Eleina England,Patrick Yap	2022	6
5	A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213 American Journal of Medical Genetics Part A ·Alanna Strong,Gina O’Grady,Evelyn K. Shih,Jonathan Bishop,Kathleen M. Loomes,Tamir Diamond,Erum A. Hartung,William Wong,Sanmati Cuddapah,Anne Marie Cahill,Cuiping Hou,Diana J. Slater,Courtney Vaccaro,Deborah Watson,Li Dong,Håkon Håkonarson	2021	11
6	Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study Quality of Life Research ·Alice Theadom,Miriam Rodrigues,Annemarei Ranta,Gemma Poke,Donald R. Love,Kelly Jones,Braden Te Ao,Graeme Hammond-Tooke,Priya Parmar,Gina O’Grady,Richard Roxburgh,Kerry Walker,Christopher D. Higgins,Valery L. Feigin,Rita Krishnamurthi,Alain C. Vandal,Paul Brown,Jenny Stewart	2021	4
7	Exercise Cardiac Magnetic Resonance Imaging in Boys With Duchenne Muscular Dystrophy Without Cardiac Disease Pediatric Neurology ·Lisa C. Power,Silmara Gusso,Tim Hornung,Craig Jefferies,José G. B. Derraik,Paul L. Hofman,Gina O’Grady	2020	4
8	Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study BMJ Open ·Alice Theadom,Richard Roxburgh,Erin MacAulay,Gina O’Grady,Joshua Burns,Priya Parmar,Kelly Jones,Miriam Rodrigues	2019	24
9	Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now? Pediatric Neurology ·Alena Adaikina,Paul L. Hofman,Gina O’Grady,Silmara Gusso	2019	9
10	A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders Neuroepidemiology ·Alice Theadom,Miriam Rodrigues,Gemma Poke,Gina O’Grady,Donald R. Love,Graeme Hammond-Tooke,Priya Parmar,Ronelle K. Baker,Valery L. Feigin,Kelly Jones,Braden Te Ao,Annemarei Ranta,Richard Roxburgh	2019	26
11	Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review Neuromuscular Disorders ·Lisa C. Power,Gina O’Grady,Tim Hornung,Craig Jefferies,Silmara Gusso,Paul L. Hofman	2018	16
12	Isolated seizures during the first episode of relapsing myelin oligodendrocyte glycoprotein antibody‐associated demyelination in children Developmental Medicine & Child Neurology ·Sudarshini Ramanathan,Gina O’Grady,Stephen Malone,Claire G. Spooner,David A. Brown,Deepak Gill,Fabienne Brilot,Russell C. Dale	2018	50
13	Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases npj Genomic Medicine ·Deborah Schofield,Khurshid Alam,Lyndal Douglas,Rupendra Shrestha,Daniel G. MacArthur,Mark R. Davis,Nigel G. Laing,Nigel F. Clarke,Joshua Burns,Sandra T. Cooper,Kathryn N. North,Sarah A. Sandaradura,Gina O’Grady	2017	59
14	The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients Journal of Neuromuscular Diseases ·Miriam Rodrigues,Gina O’Grady,Graeme Hammond-Tooke,Alexa Kidd,D. Love,Ronelle K. Baker,Richard Roxburgh	2017	6
15	Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease European Journal of Human Genetics ·Gina O’Grady,Alan Ma,Deborah A. Sival,Monica Wong,Tony Peduto,Manoj P. Menezes,Helen Young,Leigh B. Waddell,Roula Ghaoui,Merrilee Needham,Monkol Lek,Kathryn N. North,Daniel G. MacArthur,Conny MA van Ravenswaaij-Arts,Nigel F. Clarke	2016	2
16	Variants in SLC18A3 , vesicular acetylcholine transporter, cause congenital myasthenic syndrome Neurology ·Gina O’Grady,Corien Verschuuren,Michaela Yuen,Richard Webster,Manoj P. Menezes,Johanna M. Fock,Natalie A. Pride,Heather Best,Tatiana Benavides Damm,Christian Turner,Monkol Lek,Andrew G. Engel,Kathryn N. North,Nigel F. Clarke,Daniel G. MacArthur,Erik-Jan Kamsteeg,Sandra T. Cooper	2016	42
17	Diagnosis and etiology of congenital muscular dystrophy: We are halfway there Annals of Neurology ·Gina O’Grady,Monkol Lek,Shireen R. Lamandé,Leigh B. Waddell,Emily C. Oates,Jaya Punetha,Roula Ghaoui,Sarah A. Sandaradura,Heather Best,Simranpreet Kaur,Mark R. Davis,Nigel G. Laing,Francesco Muntoni,Eric P. Hoffman,Daniel G. MacArthur,Nigel F. Clarke,Sandra T. Cooper,Kathryn N. North	2016	49
18	Prevalence of genetic muscle disorders (MD-Prev): A national, population-based study Neuromuscular Disorders ·Alice Theadom,Richard Roxburgh,M. Rodrigues,Gina O’Grady,Tamasin Taylor,Regina Baker,Gemma Poke,Donald R. Love,Graeme Hammond-Tooke,Annemarei Ranta,Kelly Jones,Jenny Stewart,Braden Te Ao,Priya Parmar,Alain C. Vandal,R Krishnamurthi,Paul Brown,Valery L. Feigin	2016	1
19	Use of whole-exome sequencing for diagnosis of Limb-Girdle muscular dystrophy Murdoch Research Repository (Murdoch University) ·Roula Ghaoui,Sandra T. Cooper,Monkol Lek,K. Jones,Alastair Corbett,S.W. Reddel,Merrilee Needham,Christina Liang,Leigh B. Waddell,Garth A. Nicholson,Gina O’Grady,Shagun Kaur,Royston Ong,MB Davis,Carolyn M. Sue,Nigel G. Laing,Kathryn N. North,Daniel G. MacArthur,Nigel F. Clarke	2015	2
20	Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine European Journal of Human Genetics ·Gina O’Grady,Heather Best,Emily C. Oates,Simranpreet Kaur,Amanda Charlton,Susan Brammah,Jaya Punetha,Akanchha Kesari,Kathryn N. North,Biljana Ilkovski,Eric P. Hoffman,Nigel F. Clarke	2014	16

About Gina O’Grady

Gina O’Grady is a scholar working on Genetics, Neurology and Speech and Hearing, having authored 22 papers that have together received 480 indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (11 papers), Neurogenetic and Muscular Disorders Research (6 papers), Cardiomyopathy and Myosin Studies (5 papers), Genetic Neurodegenerative Diseases (3 papers), Genomics and Rare Diseases (2 papers), Myasthenia Gravis and Thymoma (2 papers), Peripheral Neuropathies and Disorders (2 papers) and Childhood Cancer Survivors' Quality of Life (2 papers). The work is most often cited by research in Genetics (125 citations), Neurology (95 citations) and Cellular and Molecular Neuroscience (97 citations). Gina O’Grady has collaborated with scholars based in New Zealand, United States and Australia. Frequent co-authors include Kathryn N. North, Nigel F. Clarke, Sandra T. Cooper, Daniel G. MacArthur, Mark R. Davis, Nigel G. Laing, Monkol Lek, Simranpreet Kaur, Leigh B. Waddell and Roula Ghaoui. Their work appears in journals such as Neurology, Annals of Neurology and Quality of Life Research.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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