List of works - John Henry McDermott

A case of diencephalic syndrome presenting with isolated lipodystrophy

scientific article published on 01 October 2018

A case-control study examining inconsistencies in pain management following fractured neck of femur: an inferior analgesia for the cognitively impaired.

scientific article

Acute carbon monoxide toxicity in a paediatric cohort: analysis of 10 boys poisoned during a scuba diving lesson.

scientific article published on 8 March 2018

Decomposing Oncogenic Transcriptional Signatures to Generate Maps of Divergent Cellular States.

scientific article published on August 2017

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

scientific article

Diagnosing and Preventing Hearing Loss in the Genomic Age

scientific article published on 01 January 2019

Genetic testing in the acute setting: a round table discussion

scientific article published on 10 July 2020

Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

scientific article

Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy

scientific article published on 27 November 2017

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

scientific article published on 01 November 2019

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

scientific article published on 05 November 2020

Patient and public involvement in hearing research: opportunities, impact and reflections with case studies from the Manchester Centre for Audiology and Deafness

scientific article published in 2022

Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial: a protocol for a prospective observational implementation trial

scientific article published in 2021

Sibling recurrence of total anomalous pulmonary venous drainage.

scientific article published on 7 March 2017

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

scientific article published on 21 January 2019

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

scientific article

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

scientific article published in 2021

Using a biomarker acutely to identify babies at risk of serious adverse effects from antibiotics: where is the 'Terrible Moral and Medical Dilemma'?

scientific article published on 17 December 2020

List of works by John Henry McDermott

A case of diencephalic syndrome presenting with isolated lipodystrophy

A case-control study examining inconsistencies in pain management following fractured neck of femur: an inferior analgesia for the cognitively impaired.

Acute carbon monoxide toxicity in a paediatric cohort: analysis of 10 boys poisoned during a scuba diving lesson.

Decomposing Oncogenic Transcriptional Signatures to Generate Maps of Divergent Cellular States.

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

Diagnosing and Preventing Hearing Loss in the Genomic Age

Genetic testing in the acute setting: a round table discussion

Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Patient and public involvement in hearing research: opportunities, impact and reflections with case studies from the Manchester Centre for Audiology and Deafness

Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial: a protocol for a prospective observational implementation trial

Sibling recurrence of total anomalous pulmonary venous drainage.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

Using a biomarker acutely to identify babies at risk of serious adverse effects from antibiotics: where is the 'Terrible Moral and Medical Dilemma'?