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Ruth Armstrong | Researchclopedia

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Ruth Armstrong

Cambridge University Hospitals NHS Foundation Trust

67

Works

6,202

Citations

33

h-index

45

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

Affiliations

University of Siena2021–2021

National Health Service2013–2013

Roslin Institute2021–2023

University of Liverpool1992–2009

University of Cambridge2012–2024

Top Works

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis,Kaitlin E. Samocha,et al.

2020647 citations

Congenital heart defects research

Genomics and Chromatin Dynamics

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss,Gavin Arno,et al.

2016478 citations

Whole-genome sequencing reveals host factors underlying critical COVID-19

Athanasios Kousathanas,Erola Pairo‐Castineira,et al.

2022341 citations

Tumor risks and genotypeâphenotypeâproteotype analysis in 358 patients with germline mutations in<i>SDHB</i>and<i>SDHD</i>

Christopher J. Ricketts,Julia Forman,et al.

2009338 citations

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faúndes,William G. Newman,et al.

2017272 citations

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Erola Pairo‐Castineira,Konrad Rawlik,et al.

2023190 citations

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Gea Beunders,Els Voorhoeve,et al.

2013188 citations

Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

Katrina Tatton‐Brown,Anne R. Murray,et al.

2013145 citations

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino,Helen M. Stuart,et al.

2017137 citations