John Mcdermott

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
• The Implementation of Pharmacogenetics in the United Kingdom.
• Letters to the Editor.
• Development of a point-of-care genetic test for effective treatment of ischaemic stroke: an early model-based cost-effectiveness analysis [version 1; peer review: 1 approved, 2 approved with reservations]