R. Ghaoui

发表

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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

Muscle disorders: the latest investigations

N. Clarke, M. Needham, R. Ghaoui, 2013, Internal medicine journal.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

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

UDP-glucuronosyltransferase-dependent bioactivation of clofibric acid to a DNA-damaging intermediate in mouse hepatocytes.

F. Fontaine, P. Burcham, R. Ghaoui, 2003, Chemico-biological interactions.

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

D. MacArthur, B. Cummings, L. Waddell, 2019, European Journal of Human Genetics.

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

D. MacArthur, M. Lek, L. Waddell, 2016, Neuromuscular Disorders.

Optimisation of the comet genotoxicity assay in freshly isolated murine hepatocytes: detection of strong in vitro DNA damaging properties for styrene.

J. Edwards, F. Fontaine, P. Burcham, 2004, Toxicology in vitro : an international journal published in association with BIBRA.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

D. Mackey, C. Sue, J. Christodoulou, 2021, Internal medicine journal.

Axonal excitability in primary amyloidotic neuropathy

D. Burke, K. Ng, R. Ghaoui, 2015, Muscle & nerve.

Genetic mimics of cerebral palsy

C. Sue, T. Pearson, R. Pons, 2019, Movement disorders : official journal of the Movement Disorder Society.

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.

Movement disorders in mitochondrial disease

C. Sue, R. Ghaoui, 2018, Journal of Neurology.

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.

Pathogenic Abnormal Splicing due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Beryl B. Cummings, D. MacArthur, L. Waddell, 2019, American journal of human genetics.

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

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

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Investigation of hereditary muscle disorders in the genomic era

M. Needham, R. Ghaoui, 2020 .

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

Beryl B. Cummings, D. MacArthur, L. Waddell, 2019, European Journal of Human Genetics.

Expanding the phenotype of GMPPB mutations.

D. MacArthur, M. Lek, G. Ravenscroft, 2015, Brain : a journal of neurology.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

D. MacArthur, M. Lek, L. Waddell, 2016, Neurology.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis

G. Ravenscroft, N. Laing, K. Kassahn, 2023, Neuromuscular Disorders.

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

D. MacArthur, M. Mroczek, S. Cooper, 2020, Neuromuscular Disorders.

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.

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

B. Weisburd, G. Ravenscroft, N. Laing, 2023, Brain 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.

Autoantibody responses to nodal and paranodal antigens in chronic inflammatory neuropathies

J. Pollard, N. Yuki, C. Yiannikas, 2017, Journal of Neuroimmunology.