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Helen V. Firth

D-Index & Metrics

Biology and Biochemistry

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

Helen V. Firth publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where Helen V. Firth sits on this spectrum.

47–56 publications: 8 scientists 57–66 publications: 35 scientists 67–76 publications: 106 scientists 77–86 publications: 231 scientists 87–96 publications: 414 scientists 97–106 publications: 546 scientists 107–116 publications: 704 scientists 117–126 publications: 849 scientists 127–136 publications: 980 scientists 137–146 publications: 942 scientists 147–156 publications: 969 scientists 157–166 publications: 950 scientists 167–176 publications: 951 scientists 177–186 publications: 915 scientists 187–196 publications: 787 scientists 197–206 publications: 841 scientists 207–216 publications: 735 scientists 217–226 publications: 709 scientists 227–236 publications: 651 scientists 237–246 publications: 605 scientists 247–256 publications: 510 scientists 257–266 publications: 524 scientists 267–276 publications: 434 scientists 277–286 publications: 418 scientists 287–296 publications: 350 scientists 297–306 publications: 363 scientists 307–316 publications: 315 scientists 317–326 publications: 296 scientists 327–336 publications: 261 scientists 337–346 publications: 240 scientists 347–356 publications: 219 scientists 357–366 publications: 197 scientists 367–376 publications: 154 scientists 377–386 publications: 161 scientists 387–396 publications: 155 scientists 397–406 publications: 145 scientists 407–416 publications: 124 scientists 417–426 publications: 112 scientists 427–436 publications: 132 scientists 437–446 publications: 116 scientists 447–456 publications: 99 scientists 457–466 publications: 81 scientists 467–476 publications: 91 scientists 477–486 publications: 80 scientists 487–496 publications: 80 scientists 497–506 publications: 60 scientists 507–516 publications: 36 scientists 517–526 publications: 46 scientists 527–536 publications: 54 scientists 537–546 publications: 44 scientists 547–556 publications: 43 scientists 557–566 publications: 43 scientists 567–576 publications: 42 scientists 577–586 publications: 25 scientists 587–596 publications: 34 scientists 597–606 publications: 23 scientists 607–616 publications: 33 scientists 617–626 publications: 31 scientists 627–636 publications: 27 scientists 637–646 publications: 25 scientists 647–656 publications: 28 scientists 657–666 publications: 34 scientists 667–676 publications: 18 scientists 677–686 publications: 16 scientists 687–696 publications: 10 scientists 697–706 publications: 12 scientists 707–716 publications: 21 scientists 717–726 publications: 12 scientists 727–736 publications: 12 scientists 737–746 publications: 10 scientists 747–756 publications: 7 scientists 757–766 publications: 13 scientists 767–776 publications: 15 scientists 777–786 publications: 13 scientists 787–796 publications: 9 scientists 797–806 publications: 9 scientists 807–816 publications: 7 scientists 817–826 publications: 4 scientists 827–836 publications: 9 scientists 837–846 publications: 7 scientists 847–856 publications: 3 scientists 857–866 publications: 5 scientists 867–876 publications: 5 scientists 877–886 publications: 11 scientists 887–896 publications: 3 scientists 897–906 publications: 4 scientists 907–916 publications: 7 scientists 917–926 publications: 5 scientists 927–936 publications: 6 scientists 937–946 publications: 6 scientists 947–956 publications: 3 scientists 957–966 publications: 7 scientists 967–976 publications: 2 scientists 977–986 publications: 2 scientists 987–996 publications: 1 scientists 997–1,006 publications: 5 scientists 1,007–1,016 publications: 2 scientists 1,017–1,026 publications: 2 scientists 1,027 publications: 1 scientists 1,028+ publications: 100 scientists
47 publications 1,028+

This scientist: 237 publications — 63rd percentile

63% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 1,028 publications or more.

Helen V. Firth D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where Helen V. Firth sits on this spectrum.

40–41 D-Index: 80 scientists 42–43 D-Index: 183 scientists 44–45 D-Index: 317 scientists 46–47 D-Index: 504 scientists 48–49 D-Index: 718 scientists 50–51 D-Index: 900 scientists 52–53 D-Index: 1,026 scientists 54–55 D-Index: 1,150 scientists 56–57 D-Index: 1,236 scientists 58–59 D-Index: 1,253 scientists 60–61 D-Index: 1,163 scientists 62–63 D-Index: 1,131 scientists 64–65 D-Index: 1,032 scientists 66–67 D-Index: 897 scientists 68–69 D-Index: 814 scientists 70–71 D-Index: 715 scientists 72–73 D-Index: 709 scientists 74–75 D-Index: 596 scientists 76–77 D-Index: 512 scientists 78–79 D-Index: 473 scientists 80–81 D-Index: 412 scientists 82–83 D-Index: 373 scientists 84–85 D-Index: 358 scientists 86–87 D-Index: 285 scientists 88–89 D-Index: 273 scientists 90–91 D-Index: 227 scientists 92–93 D-Index: 208 scientists 94–95 D-Index: 193 scientists 96–97 D-Index: 153 scientists 98–99 D-Index: 157 scientists 100–101 D-Index: 148 scientists 102–103 D-Index: 120 scientists 104–105 D-Index: 113 scientists 106–107 D-Index: 100 scientists 108–109 D-Index: 86 scientists 110–111 D-Index: 67 scientists 112–113 D-Index: 72 scientists 114–115 D-Index: 73 scientists 116–117 D-Index: 64 scientists 118–119 D-Index: 53 scientists 120–121 D-Index: 60 scientists 122–123 D-Index: 54 scientists 124–125 D-Index: 43 scientists 126–127 D-Index: 38 scientists 128–129 D-Index: 49 scientists 130–131 D-Index: 26 scientists 132–133 D-Index: 18 scientists 134–135 D-Index: 23 scientists 136–137 D-Index: 32 scientists 138–139 D-Index: 32 scientists 140–141 D-Index: 27 scientists 142–143 D-Index: 19 scientists 144–145 D-Index: 22 scientists 146–147 D-Index: 12 scientists 148–149 D-Index: 16 scientists 150–151 D-Index: 14 scientists 152–153 D-Index: 10 scientists 154–155 D-Index: 13 scientists 156–157 D-Index: 10 scientists 158–159 D-Index: 7 scientists 160–161 D-Index: 9 scientists 162–163 D-Index: 13 scientists 164–165 D-Index: 4 scientists 166 D-Index: 4 scientists 167+ D-Index: 98 scientists
40 D-Index 167+

This scientist: 71 D-Index — 67th percentile

67% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 167 D-Index or more.

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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Related Online Degrees & Career Pathways

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These online pathways provide flexibility and accessible learning options, helping students align their biology and biochemistry interests with clear professional goals.

Best Scientists Citing Helen V. Firth

Stephen W. Scherer

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James R. Lupski

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Evan E. Eichler

Evan E. Eichler

University of Washington

Publications: 94

Jill A. Rosenfeld

Jill A. Rosenfeld

Baylor College of Medicine

Publications: 92

Peter N. Robinson

Peter N. Robinson

The Jackson Laboratory

Publications: 73

Han G. Brunner

Han G. Brunner

Radboud University

Publications: 65

Pawel Stankiewicz

Pawel Stankiewicz

Baylor College of Medicine

Publications: 60

Rolph Pfundt

Rolph Pfundt

Radboud University

Publications: 59

Joris A. Veltman

Joris A. Veltman

University of Edinburgh

Publications: 58

Melissa A. Haendel

Melissa A. Haendel

University of Colorado Anschutz Medical Campus

Publications: 57

Jill Clayton-Smith

Jill Clayton-Smith

University of Manchester

Publications: 56

Anne H. O’Donnell-Luria

Anne H. O’Donnell-Luria

Broad Institute

Publications: 54

Deborah J.G. Mackay

Deborah J.G. Mackay

University of Southampton

Publications: 53

Christian R. Marshall

Christian R. Marshall

University of Toronto

Publications: 50

Christiane Zweier

Christiane Zweier

University of Erlangen-Nuremberg

Publications: 50

Heidi L. Rehm

Heidi L. Rehm

Brigham and Women's Hospital

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