Philip S Smith

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

Phillipe Taniere, Louise Izatt, Douglas E V Pires, 2017, Molecular genetics & genomic medicine.

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

Soo-Mi Park, M. Tran, S. Tomkins, 2017, The Journal of clinical endocrinology and metabolism.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing

P. Morrison, A. Warren, M. Tischkowitz, 2020, Genes, chromosomes & cancer.

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

D. Evans, W. Newman, F. Lalloo, 2016, European Journal of Human Genetics.

A pan-cancer compendium of chromosomal instability

Lydia Y. Liu, F. Markowetz, P. Van Loo, 2022, Nature.

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases

L. Bassaganyas, R. Houlston, Bryndís Yngvadóttir, 2022, Human molecular genetics.

JCV-specific cellular immune response correlates with a favorable clinical outcome in HIV-infected individuals with progressive multifocal leukoencephalopathy

N. Letvin, U. Girolami, R. D. Pasquier, 2011, Journal of NeuroVirology.