Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Helen V. Firth | Researchclopedia

Back to researchers

Helen V. Firth

European Bioinformatics Institute ORCID

540

Works

24,098

Citations

73

h-index

164

i10-index

Research Topics

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

Affiliations

National Health Service2018–2020

The University of Sydney2016–2016

European Bioinformatics Institute2023–2025

Queen Mary University of London2020–2020

Justus-Liebig-Universität Gießen2018–2018

Top Works

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth,Shola M. Richards,et al.

20092,072 citations

Prenatal Screening and Diagnostics

Cancer Genomics and Diagnostics

A cellular census of human lungs identifies novel cell states in health and in asthma

Felipe A. Vieira Braga,Gozde Kar,et al.

2019948 citations

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler,Sandra C. Doelken,et al.

2013837 citations

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford,Andrew J. Sharp,et al.

2008807 citations

The Human Phenotype Ontology in 2017

Sebastian Köhler,Nicole Vasilevsky,et al.

2016796 citations

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright,Tomas Fitzgerald,et al.

2014787 citations

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava,Jamie Love‐Nichols,et al.

2019704 citations

Paediatric genomics: diagnosing rare disease in children

Caroline F. Wright,David Fitzpatrick,et al.

2018622 citations

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks,Kim Coleman,et al.

2004606 citations