Helen V. Firth

European Bioinformatics Institute — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

73h-index23.8kcitations541works7.12yr avg
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Research Topics

Genomics and Rare Diseases(138), Genomic variations and chromosomal abnormalities(105), Genetics and Neurodevelopmental Disorders(66), Prenatal Screening and Diagnostics(30), Cancer Genomics and Diagnostics(30)

Publications518 total

Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype
2025Open Access
Complex de novo structural variants are an underestimated cause of rare disorders
Nature Communications·2025· 1 citedOpen Access
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders
Genome Medicine·2025Open Access
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
European Journal of Human Genetics·2025· 1 citedOpen Access
How do clinician and parent reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study(GenROC)
2025Open Access
Mapping MAVE data for use in human genomics applications
Genome biology·2025· 8 citedOpen Access
7752 The LMSz method: a new automatable method for producing gene specific growth charts for children with genetic neurodevelopmental disorders
2025
Phenotypic heterogeneity in <i>DYNC2H1</i>-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes
Journal of Medical Genetics·2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
Genome Medicine·2025· 4 citedOpen Access
Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.
2025Open Access
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Human Mutation·2025· 1 citedOpen Access
EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2024
Nucleic Acids Research·2024· 10 citedOpen Access
Examining the role of common variants in rare neurodevelopmental conditions
Nature·2024· 40 citedOpen Access
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)
Genome Medicine·2024· 11 citedOpen Access
25. DISSECTING THE CONTRIBUTION OF COMMON VARIANTS TO RISK OF RARE NEURODEVELOPMENTAL CONDITIONS
European Neuropsychopharmacology·2024
Phenotypic spectrum of dual diagnoses in developmental disorders
The American Journal of Human Genetics·2024· 10 citedOpen Access
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
Nature Genetics·2024· 9 citedOpen Access
Substantial role of rare inherited variation in individuals with developmental disorders
2024· 2 citedOpen Access
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
2024· 3 citedOpen Access
Complex de novo structural variants are an underestimated cause of rare disorders
2024Open Access
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Frequent Co-authors

David Fitzpatrick(15), Caroline F. Wright(15), Matthew E. Hurles(14), Jeremy F. McRae(7), Michael Parker(7), Jeffrey C. Barrett(7), Lionel Willatt(6), Elena Prigmore(6), Diana Rajan(5), Nicole de Leeuw(5), Bert B.A. de Vries(5), Alejandro Sifrim(5), G. Jawahar Swaminathan(5), Ada Hamosh(5), Anita Rauch(5), Stephen Clayton(4), Nigel P. Carter(4), Michael Brudno(4), Ingo Helbig(4), Melissa Haendel(4)