Elizabeth A. Jones
Manchester, ENG M139NT, United Kingdom
Last Updated: 09/26/2026
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Found 42 publications
Pancreatic neuroendocrine tumors in patients with tuberous sclerosis: a multicenter study and systematic review.
Journal: Journal of the Endocrine Society
Published: July 29, 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.
Journal: European journal of human genetics : EJHG
Published: February 21, 2026
Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.
Journal: The Journal of clinical investigation
Published: August 06, 2025
Are we comfortable managing oral anticoagulation at the end of life? A national survey of secondary care clinicians in the UK.
Journal: Clinical medicine (London, England)
Published: May 20, 2025
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 05, 2024
"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.
Journal: European journal of human genetics : EJHG
Published: May 02, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.
Journal: Nature communications
Published: October 20, 2023
Use of immersive virtual reality to reduce anxiety during complex paediatric dressing changes.
Journal: BMJ case reports
Published: February 10, 2023
SARS-CoV-2-related bronchiolitis: a multicentre international study.
Journal: Archives of disease in childhood
Published: February 09, 2023
NICE guideline review: Epilepsies in children, young people and adults NG217.
Journal: Archives of disease in childhood. Education and practice edition
Published: October 19, 2022
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Journal: HGG advances
Published: October 04, 2022
Last Updated: 09/26/2026