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Biology and Biochemistry

D-Index
71
Citations
24002
World Ranking
6534
National Ranking
500

Overview

Helen V. Firth is affiliated with the University of Cambridge in the United Kingdom and has contributed extensively to the field of Biochemistry, Genetics and Molecular Biology. Their research primarily focuses on Genetics, Molecular Biology, and areas relating to Cancer Research, Pathology and Forensic Medicine, and Public Health, Environmental and Occupational Health.

The scientist's work encompasses a range of topics including:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Cancer Genomics and Diagnostics
  • Congenital heart defects research
  • CRISPR and Genetic Engineering
  • Genetic Associations and Epidemiology

Helen V. Firth has authored or co-authored numerous papers published in well-known venues. Some of the recent notable publications include:

  • "The Human Phenotype Ontology in 2024: phenotypes around the world," 2023, Nucleic Acids Research
  • "GA4GH: International policies and standards for data sharing across genomic research and healthcare," 2021, Cell Genomics
  • "Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland," 2023, New England Journal of Medicine
  • "The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources," 2022, Genetics in Medicine
  • "A framework for an evidence-based gene list relevant to autism spectrum disorder," 2020, Nature Reviews Genetics

Their collaborative network includes frequent co-authors such as Caroline F. Wright, Matthew E. Hurles, David Fitzpatrick, Ruth Y. Eberhardt, and Petr Danecek. These collaborators have worked with Helen V. Firth on multiple occasions, indicating a sustained research partnership.

Publication venues where Helen V. Firth has often contributed include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • The American Journal of Human Genetics
  • Genetics in Medicine Open
  • Human Genetics and Genomics Advances

Best Publications

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

    Helen V. Firth;Shola M. Richards;A. Paul Bevan;Stephen Clayton

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

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

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

    Felipe A. Vieira Braga;Gozde Kar;Marijn Berg;Orestes A. Carpaij

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

    Caroline F Wright;Tomas W Fitzgerald;Wendy D Jones;Stephen Clayton

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

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

    C Shaw-Smith;R Redon;L Rickman;M Rio

  • Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

    Sandra Hanks;Kim Coleman;Sarah Reid;Alberto Plaja

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

    Siddharth Srivastava;Jamie A. Love-Nichols;Kira A. Dies;David H. Ledbetter

  • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

    Deborah J G Mackay;Deborah J G Mackay;Jonathan L A Callaway;Jonathan L A Callaway;Sophie M Marks;Helen E White

  • Paediatric genomics: diagnosing rare disease in children.

    Caroline F. Wright;David R. FitzPatrick;Helen V. Firth

  • The Matchmaker Exchange: a platform for rare disease gene discovery

    Anthony A. Philippakis;Anthony A. Philippakis;Anthony A. Philippakis;Danielle R. Azzariti;Sergi Beltran;Anthony J. Brookes

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

    J Kaplanis;K E Samocha;L Wiel;Z Zhang

  • Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

    Charles Shaw-Smith;Alan M Pittman;Lionel Willatt;Howard Martin

  • Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

    Caroline F Wright;Caroline F Wright;Jeremy F McRae;Stephen Clayton;Giuseppe Gallone

  • Identification of SATB2 as the cleft palate gene on 2q32-q33

    David R FitzPatrick;Ian M Carr;Lorna McLaren;Jack P Leek

  • Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

    Deborah Krakow;Deborah Krakow;Stephen P Robertson;Lily M King;Timothy Morgan

  • Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

    Mari E. K. Niemi;Hilary C. Martin;Daniel L. Rice;Giuseppe Gallone

  • Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

    Twila M. Yobb;Martin J. Somerville;Lionel Willatt;Helen V. Firth

  • De novo mutations in regulatory elements in neurodevelopmental disorders.

    Patrick J. Short;Jeremy F. McRae;Giuseppe Gallone;Alejandro Sifrim

Frequent Co-Authors

Caroline F. Wright
Caroline F. Wright Wellcome Sanger Institute
Matthew E. Hurles
Matthew E. Hurles Wellcome Sanger Institute
David R. FitzPatrick
David R. FitzPatrick University of Edinburgh
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
Judith G. Hall
Judith G. Hall University of British Columbia
Michael Parker
Michael Parker University of Oxford
I. Karen Temple
I. Karen Temple University of Southampton
Nigel P. Carter
Nigel P. Carter Wellcome Sanger Institute
Han G. Brunner
Han G. Brunner Radboud University
Bronwyn Kerr
Bronwyn Kerr University of Manchester

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