John P. Short
St George's University Hospitals NHS Foundation Trust
London, ENG SW170QT, United Kingdom
London, ENG SW170QT, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
Defining an approach to empower clinical geneticists to do genomic reanalysis.
Journal: BMC medical genomics
Published: September 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery.
Journal: Familial cancer
Published: January 22, 2024
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing - A modeling study based on real-world data.
Journal: European journal of medical genetics
Published: November 15, 2023
Proactive familial cancer risk assessment: a service development study in UK primary care.
Journal: BJGP open
Published: April 28, 2023
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
Journal: Clinical dysmorphology
Published: October 15, 2021
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Journal: European journal of human genetics : EJHG
Published: March 24, 2015
Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.
Journal: American journal of medical genetics. Part A
Published: August 04, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026