G. O'grady

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Impacts for Children Living with Genetic Muscle Disorders and their Parents - Findings from a Population-Based Study.

A. Theadom, K. Jones, G. O'grady, 2018, Journal of neuromuscular diseases.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

A. Theadom, P. Parmar, K. Jones, 2019, BMJ Open.

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study

V. Feigin, A. Theadom, A. Vandal, 2021, Quality of Life Research.

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

G. O'grady, M. Rodrigues, R. Roxburgh, 2017, Journal of neuromuscular diseases.

Coping in Children and Adolescents with a Genetic Muscle Disorder -Findings from a Population-Based Study.

Kelly M Jones, A. Ranta, G. O'grady, 2021, Journal of neuromuscular diseases.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

Beryl B. Cummings, D. MacArthur, M. Lek, 2016, American journal of human genetics.

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

M. Schroth, D. Zafeiriou, Y. Chien, 2021, Neuromuscular Disorders.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

D. MacArthur, M. Lek, N. Clarke, 2016, Neurology.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

E. Hoffman, M. Tarnopolsky, S. Sandaradura, 2016, Journal of neuromuscular diseases.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

D. MacArthur, M. Lek, L. Waddell, 2015, JAMA neurology.

Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?

G. O'grady, P. Hofman, S. Gusso, 2019, Pediatric neurology.

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

E. Hoffman, B. Ilkovski, N. Clarke, 2014, European Journal of Human Genetics.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

D. MacArthur, M. Lek, L. Waddell, 2016, European Journal of Human Genetics.

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Beryl B. Cummings, D. MacArthur, S. Ellard, 2020, Human mutation.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

F. Muntoni, L. Servais, Glyn Williams, 2018, Human mutation.

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2021, Neurology: Genetics.

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

D. MacArthur, E. Hoffman, M. Lek, 2016, Annals of neurology.

Exercise Cardiac Magnetic Resonance Imaging in Boys With Duchenne Muscular Dystrophy Without Cardiac Disease.

G. O'grady, T. Hornung, J. Derraik, 2020, Pediatric neurology.

Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review

G. O'grady, T. Hornung, P. Hofman, 2018, Neuromuscular Disorders.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Robert W. Taylor, F. Tort, L. Waddell, 2019, Journal of inherited metabolic disease.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

H. Hakonarson, D. Slater, Erum A. Hartung, 2021, American journal of medical genetics. Part A.

A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders

V. Feigin, A. Theadom, P. Parmar, 2019, Neuroepidemiology.

Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome

G. O'grady, E. England, Juliet Taylor, 2022, American journal of medical genetics. Part A.

Isolated seizures during the first episode of relapsing myelin oligodendrocyte glycoprotein antibody‐associated demyelination in children

G. O'grady, D. Brown, R. Dale, 2018, Developmental medicine and child neurology.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

D. MacArthur, A. Pagnamenta, N. Popitsch, 2015, Human molecular genetics.

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

A. Palotie, M. Kurki, M. Hallman, 2023, Frontiers in Neuroscience.

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Joshua Burns, Daniel G. MacArthur, Khurshid Alam, 2017, npj Genomic Medicine.

Use ofWhole-Exome Sequencing for Diagnosis of Limb-GirdleMuscular Dystrophy Outcomes and Lessons Learned

D. MacArthur, M. Lek, L. Waddell, 2015 .

G.P.35 Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies

M. Lek, N. Laing, D. Macarthur, 2014, Neuromuscular Disorders.

Vibration Therapy as an Early Intervention for Children Aged 2-4 Years with Cerebral Palsy: A Feasibility Study.

G. O'grady, J. Derraik, P. Hofman, 2023, Physical & Occupational Therapy in Pediatrics.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders

L. Waddell, G. O'grady, F. Evesson, 2023, Clinical genetics.

Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination

S. Broadley, A. Kermode, D. Wakefield, 2019, Acta Neuropathologica Communications.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

D. MacArthur, M. Lek, L. Waddell, 2015, JAMA neurology.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Beryl B. Cummings, Kristen M. Laricchia, A. O’Donnell-Luria, 2024, Nature genetics.