figshare
Browse

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]
  • 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
  • Genomics and insurance in the United Kingdom: increasing complexity and emerging challenges.
  • A Prospective Observational Study to Assess the Impact of Pharmacogenetics on Outcomes in Vascular Surgery (PROSPER)

John Mcdermott's public data