Elizabeth A. Price - Publications

An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.

Journal: Ophthalmic genetics

Published: November 06, 2023

MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification.

Journal: Ophthalmic genetics

Published: May 18, 2021

Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature.

Journal: Cancers

Published: December 14, 2020

Prognostic Information for Known Genetic Carriers of RB1 Pathogenic Variants (Germline and Mosaic).

Journal: Ophthalmology. Retina

Published: June 03, 2020

Number, frequency and time interval of examinations under anesthesia in bilateral retinoblastoma.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: September 09, 2019

Examinations under anaesthesia as a measure of disease burden in unilateral retinoblastoma: the London experience.

Journal: The British journal of ophthalmology

Published: November 12, 2018

Detection and reporting of RB1 promoter hypermethylation in diagnostic screening.

Journal: Ophthalmic genetics

Published: June 01, 2018

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

Journal: Human mutation

Published: October 07, 2015

Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

Journal: Journal of medical genetics

Published: November 15, 2013