Diana S. Johnson

Sheffield, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 66 publications

Comparing the clinical and cost-effectiveness of various washout policies in preventing catheter associated complications in adults living with long-term catheters: synopsis of the CATHETER II RCT.

Comparing the clinical and cost-effectiveness of various washout policies in preventing catheter associated complications in adults living with long-term catheters: synopsis of the CATHETER II RCT.

Journal: Health technology assessment (Winchester, England)

Published: March 30, 2026

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 16, 2025

PARTIAL: study protocol for a clinical and cost-effectiveness of complex PARTIAL vs radical nephrectomy for clinically localised renal cell carcinoma randomised trial.

PARTIAL: study protocol for a clinical and cost-effectiveness of complex PARTIAL vs radical nephrectomy for clinically localised renal cell carcinoma randomised trial.

Journal: Trials

Published: August 12, 2025

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

Journal: European journal of human genetics : EJHG

Published: July 23, 2025

A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome.

A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome.

Journal: Nature communications

Published: May 21, 2025

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.

Journal: NPJ genomic medicine

Published: May 14, 2025

Patient and healthcare professionals' perception of weekly prophylactic catheter washout in adults living with long-term catheters: qualitative study of the CATHETER II trial.

Patient and healthcare professionals' perception of weekly prophylactic catheter washout in adults living with long-term catheters: qualitative study of the CATHETER II trial.

Journal: BMJ open

Published: April 07, 2025

Vascular Ehlers-Danlos syndrome: a heritable condition with potentially fatal consequences.

Vascular Ehlers-Danlos syndrome: a heritable condition with potentially fatal consequences.

Journal: The Lancet. Rheumatology

Published: March 17, 2025

CATHETER II: a randomised controlled trial comparing the clinical effectiveness of various washout policies versus no washout policy in preventing catheter-associated complications in adults living with long-term catheters.

CATHETER II: a randomised controlled trial comparing the clinical effectiveness of various washout policies versus no washout policy in preventing catheter-associated complications in adults living with long-term catheters.

Journal: BMJ open

Published: December 02, 2024

NOTCH3 -Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.

NOTCH3 -Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.

Journal: American journal of medical genetics. Part A

Published: October 04, 2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 05, 2024

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

Journal: European journal of human genetics : EJHG

Published: April 19, 2024

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Last Updated: 09/26/2026