John Mcdermott

0000-0002-5220-8837

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]
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Exploring NICU nurses' views of a novel genetic point-of-care test identifying neonates at risk of antibiotic-induced ototoxicity: A qualitative study.
MT-RNR1 Genotype Should Not Affect Childhood Vaccination-Unintended Consequences of Guidelines.
Introduction to pharmacogenetics.
Pharmacogenetics clinical decision support tools for primary care in England: a co-design study (Preprint)
Exercise instructors are not consistently implementing the strength component of the UK chief medical officers' physical activity guidelines in their exercise prescription for older adults
Public preferences for pharmacogenetic testing in the NHS: Embedding a discrete choice experiment within service design to better meet user needs
P10.016.D Biallelic variants in RCC1 result in fever associated axonal neuropathy with encephalopathy