Philip S. Smith
Stevenage, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 15 publications
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Journal: Human molecular genetics
Published: February 15, 2022
Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
Journal: European journal of human genetics : EJHG
Published: November 06, 2020
Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity.
Journal: Genes, chromosomes & cancer
Published: June 05, 2020
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.
Journal: Genes, chromosomes & cancer
Published: July 11, 2019
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Journal: Scientific reports
Published: March 18, 2019
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Journal: American journal of human genetics
Published: December 06, 2017
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Journal: The Journal of clinical endocrinology and metabolism
Published: March 03, 2017
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Journal: Molecular genetics & genomic medicine
Published: November 18, 2016
Last Updated: 09/26/2026