JM
Publications
- Acute carbon monoxide toxicity in a paediatric cohort: analysis of 10 boys poisoned during a scuba diving lesson.
- The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.
- Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy.
- A diagnostic evaluation of single screen testing for malaria in the returning traveller - a large retrospective cohort study.
- Diagnosing and Preventing Hearing Loss in the Genomic Age.
- Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
- Decomposing Oncogenic Transcriptional Signatures to Generate Maps of Divergent Cellular States.
- Hypoglycaemia Represents a Clinically Significant Manifestation of PIK3CA- and CCND2-Associated Segmental Overgrowth.
- New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
- Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders.
- Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
- A case of diencephalic syndrome presenting with isolated lipodystrophy.
- Using a biomarker acutely to identify babies at risk of serious adverse effects from antibiotics: where is the 'Terrible Moral and Medical Dilemma'?
- Genomic Sequencing and Healthcare Dynamics Track Nosocomial SARS-CoV-2 Transmission
- A Non-Adaptive Combinatorial Group Testing Strategy to Facilitate Healthcare Worker Screening During the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak
- A Non-Adaptive Combinatorial Group Testing Strategy to Facilitate Healthcare Worker Screening During the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak.
- Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype.
- Utilising Point of Care Diagnostics to Minimise Nosocomial Infection in the 2019 Novel Coronavirus (SARS-CoV-2) Pandemic.
- Refusal of viral testing during the SARS-CoV-2 pandemic.
- Genetic testing in the acute setting: a round table discussion.
- The role of CYP2C19 genotyping to guide antiplatelet therapy following ischemic stroke or transient ischemic attack.
- Options for Detecting Risk of Aminoglycoside-Induced Ototoxicity in Neonates-Reply.
- A blockchain-based framework to support pharmacogenetic data sharing.
- First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
- Pharmacogenomic testing to support prescribing in primary care: a structured review of implementation models
- The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders
- Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review
- Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care.
- Sibling recurrence of total anomalous pulmonary venous drainage.
- Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.
- A case-control study examining inconsistencies in pain management following fractured neck of femur: an inferior analgesia for the cognitively impaired.
- Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease.
- Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission.
- The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting.
- Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial: a protocol for a prospective observational implementation trial.
- Patient and public involvement in hearing research
