Helen V. Firth

24.1k citations

102 papers · 6.7k indexed · 3 hit papers · h-index 38

Genetics top 0.2%
- Genomics and Rare Diseases 44
- Genomic variations and chromosomal abnormalities 40
- Genetics and Neurodevelopmental Disorders 24
Pediatrics, Perinatology and Child Health top 0.5%
- Prenatal Screening and Diagnostics 10
Developmental Biology top 2%
- Congenital limb and hand anomalies 6
Molecular Biology top 2%
- Congenital heart defects research 12
Cancer Research top 2%
- Cancer Genomics and Diagnostics 12
Plant Science
- Chromosomal and Genetic Variations 8

Co-authors: Caroline F. Wright David Fitzpatrick A. Paul Bevan Nigel P. Carter Stephen Clayton Diana Rajan Steven Van Vooren Manuel Corpas
Cited by: Genetics Pediatrics, Perinatology and Child Health Developmental Biology
Journals: Nature (3 papers)The Lancet (4 papers)Nucleic Acids Research (1 paper)
Partner nations: United Kingdom United States Netherlands

In The Last Decade

Helen V. Firth

98 papers receiving 6.6k citations

Hit Papers

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What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

2019 Genetics in Medicine
2018 Nature Reviews Genetics
2009 The American Journal of Human Genetics

Peers

Countries citing papers authored by Helen V. Firth

Since Specialization

Citations

This map shows the geographic impact of Helen V. Firth's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Helen V. Firth with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Helen V. Firth more than expected).

Fields of papers citing papers by Helen V. Firth

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Helen V. Firth. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Helen V. Firth. The network helps show where Helen V. Firth may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Helen V. Firth, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Helen V. Firth Line = papers co-authored together Helen V. Firth links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders European Journal of Human Genetics ·Karen Low,Julia Foreman,Rachel J. Hobson,Hannah Kwuo,Elena Martínez‐Cayuelas,Berta Almoguera,Purificación Marín Reina,Stefano Giuseppe Caraffi,Livia Garavelli,Emily Woods,Meena Balasubramanian,Allan Bayat,Charlotte W. Ockeloen,Charlotte Wright,Helen V. Firth,Tim Cole	2025	0
2	Complex de novo structural variants are an underestimated cause of rare disorders Nature Communications ·Hyunchul Jung,Tsun-Po Yang,Susan Walker,Petr Danecek,O. Isaac Garcia-Salinas,Matthew D. C. Neville,Joseph Christopher,Isidro Cortés‐Ciriano,Helen V. Firth,Aylwyn Scally,Matthew E. Hurles,Peter J. Campbell,Raheleh Rahbari	2025	0
3	Minimum information and guidelines for reporting a multiplexed assay of variant effect Genome biology ·Melina Claussnitzer,Victoria N. Parikh,Alex H. Wagner,Jeremy A. Arbesfeld,Carol J. Bult,Helen V. Firth,Lara A. Muffley,Alex N. Nguyen Ba,Kevin Riehle,Frederick P. Roth,Daniel Tabet,Benedetta Bolognesi,Andrew M. Glazer,Alan F. Rubin	2024	8
4	Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)—a study protocol BMJ Open ·Karen Low,Amy Watford,Peter S Blair,Ian Nabney,John Powell,Sarah Wynn,Julia Foreman,Helen V. Firth,Jenny Ingram	2024	4
5	Curating genomic disease-gene relationships with Gene2Phenotype (G2P) Genome Medicine ·T. Michael Yates,Morad Ansari,Louise Thompson,Sarah Hunt,Elena Cibrián–Uhalte,Rachel J. Hobson,Joseph A. Marsh,Caroline F. Wright,Helen V. Firth	2024	2
6	A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes The American Journal of Human Genetics ·Erica Harris,Vincent Roy,Martin Montagne,Ailsa M.S. Rose,Helen Livesey,Margot R.F. Reijnders,Emma Hobson,Francis H. Sansbury,Marjolein H. Willemsen,Rolph Pfundt,Daniel Warren,Vernon Long,Ian Carr,Han G. Brunner,Eamonn Sheridan,Helen V. Firth,Pierre Lavigne,James A. Poulter	2023	4
7	Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease Cell Reports Medicine ·Ruth Hanßen,Chiara Auwerx,Maarja Jõeloo,Marie C. Sadler,Elana Henning,Julia M. Keogh,Rebecca Bounds,Miriam Smith,Helen V. Firth,Zoltán Kutalik,I. Sadaf Farooqi,Alexandre Reymond,Katherine Lawler	2023	14
8	IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders Human Genetics and Genomics Advances ·Stuart Aitken,Helen V. Firth,Caroline F. Wright,Matthew E. Hurles,David Fitzpatrick,Colin A. Semple	2022	1
9	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP Nature Communications ·Anja Thormann,Mihail Halachev,William McLaren,David Moore,Victoria Svinti,Archie Campbell,Shona M. Kerr,Marc Tischkowitz,Sarah Hunt,Malcolm G. Dunlop,Matthew E. Hurles,Caroline F. Wright,Helen V. Firth,Fiona Cunningham,David Fitzpatrick	2019	53
10	The genetics of developmental disorders Paediatrics and Child Health ·Elizabeth J. Radford,Helen V. Firth	2019	4
11	Common genetic variants contribute to risk of rare severe neurodevelopmental disorders Nature ·Mari Niemi,Hilary C. Martin,Daniel L Rice,Giuseppe Gallone,Scott D. Gordon,Martin Kelemen,Kerrie McAloney,Jeremy F. McRae,Elizabeth J. Radford,Sui Yu,Jozef Gécz,Nicholas G. Martin,Caroline F. Wright,David Fitzpatrick,Helen V. Firth,Matthew E. Hurles,Jeffrey C. Barrett	2018	184
12	Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders Genetics in Medicine ·Caroline F. Wright,Jeremy F. McRae,Stephen Clayton,Giuseppe Gallone,Stuart Aitken,Tomas Fitzgerald,Philip Jones,Elena Prigmore,Diana Rajan,Jenny Lord,Alejandro Sifrim,Rosemary E. Kelsell,Michael Parker,Jeffrey C. Barrett,Matthew E. Hurles,David Fitzpatrick,Helen V. Firth	2018	193
13	Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research European Journal of Human Genetics ·(unknown),Anna Middleton,Katherine I. Morley,Eugene Bragin,Helen V. Firth,Matthew E. Hurles,Caroline F. Wright,Michael Parker	2015	142
14	Deciphering Developmental Disorders Journal of Medical Genetics ·Caroline F. Wright,Helen V. Firth,Diana L. Fitzpatrick,J C Barrett,Michael W. Parker,N P Carter,M. E. Hurles	2012	32
15	Syndromic associations with congenital anomalies of the fetal thorax and abdomen Prenatal Diagnosis ·Jane A. Hurst,Helen V. Firth,Lyn S. Chitty	2008	4
16	Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance American Journal of Medical Genetics Part A ·Soo‐Mi Park,Christine M Hall,R. F. Gray,Helen V. Firth	2007	4
17	Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome The American Journal of Human Genetics ·Twila M. Yobb,Martin J. Somerville,Lionel Willatt,Helen V. Firth,Karen J. Harrison,Jennifer MacKenzie,Natasha Gallo,Bernice E. Morrow,Lisa G. Shaffer,Melanie Babcock,Judy Chernos,François P. Bernier,Kathy Sprysak,Jesse Christiansen,Shelagh Haase,Basil G. Elyas,Margaret Lilley,Steven Bamforth,Heather E. McDermid	2005	170
18	A case of the new overgrowth syndrome - macrocephaly with cutis marmorata, haemangioma and syndactyly Clinical Dysmorphology ·Diana Baralle,Helen V. Firth	2000	9
19	Molecular analysis of eight mutations in FBN1 Human Genetics ·Dorothy Halliday,Sarah Hutchinson,Susan Kettle,Helen V. Firth,B P Wordsworth,Penny A. Handford	1999	39
20	Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation The Lancet ·Helen V. Firth,Patricia A. Boyd,R H Lindenbaum,Susan Huson,P. Chamberlain,I.Z. Mackenzie	1991	238

About Helen V. Firth

Helen V. Firth is a scholar working on Developmental Biology, Genetics and Cancer Research, having authored 102 papers that have together received 6.7k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (44 papers), Genomic variations and chromosomal abnormalities (40 papers), Genetics and Neurodevelopmental Disorders (24 papers), Congenital heart defects research (12 papers), Cancer Genomics and Diagnostics (12 papers), Prenatal Screening and Diagnostics (10 papers), Chromosomal and Genetic Variations (8 papers) and Congenital limb and hand anomalies (6 papers). The work is most often cited by research in Genetics (4.5k citations), Pediatrics, Perinatology and Child Health (1.1k citations) and Developmental Biology (112 citations). Helen V. Firth has collaborated with scholars based in United Kingdom, United States and Netherlands. Frequent co-authors include Caroline F. Wright, David Fitzpatrick, A. Paul Bevan, Nigel P. Carter, Stephen Clayton, Diana Rajan, Steven Van Vooren, Manuel Corpas, Yves Moreau and Shola M. Richards. Their work appears in journals such as Nature, The Lancet and Nucleic Acids Research.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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