Concepedia

Beatriz Gomes-Silva

BG

Statistics

Publications

2

Citations

83

H-Index

2

Active since

2019

Affiliations

University College London(Current)

University of Manchester

Great Ormond Street Hospital for Children NHS Foundation Trust

NIHR Great Ormond Street Hospital Biomedical Research Centre

St Mary's Hospital

Beatriz Gomes-Silva is an author at University College London specializing in variant interpretation, molecular diagnostics, and medical genetics.

ORCID

Publications per year

2019–2021

2

Publications

2

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Charlie F Rowlands, Huw B. Thomas, Jenny Lord et al. · Scientific Reports · 2021 · 66 citations · Full text

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Functional and <i>in-silico</i> interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Jamie M. Ellingford, Huw B. Thomas, Charlie F Rowlands et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2019 · 17 citations · Full text

, , +17

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