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Author

Rachel Helen Horton

Observed names: Horton, Rachel, Rachel H Horton, Rachel H. Horton, Rachel Horton, Rachel H. Horton
Observed institutions: Bryn Mawr College, Centre for Human Genetics, Southampton General Hospital, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, University of Oxford, NIHR Southampton Biomedical Research Centre, University of Southampton, University of Pennsylvania
ORCID: 0000-0001-6080-6354
Observed ORCID: 0000-0001-6080-6354
OpenAlex ID: A5091717442
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
2017 · Víctor Faundes, William G. Newman, et al. · The American Journal of Human Genetics · 279
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Quantifying the contribution of recessive coding variation to developmental disorders
2018 · Hilary C. Martin, Wendy D. Jones, et al. · Science · 191
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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
2018 · Matthias Begemann, Faisal I Rezwan, et al. · Journal of Medical Genetics · 172
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Direct-to-consumer genetic testing
2019 · Rachel Horton, Gillian Crawford, et al. · BMJ · 162
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Recent developments in genetic/genomic medicine
2019 · Rachel H. Horton, Anneke M. Lucassen · Clinical Science · 127
Realistic expectations are key to realising the benefits of polygenic scores
2023 · Amit Sud, Rachel H Horton, et al. · BMJ · 85
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Consent and Autonomy in the Genomics Era
2019 · Rachel Horton, Anneke Lucassen · Current Genetic Medicine Reports · 51
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Akt is required for Stat5 activation and mammary differentiation
2010 · Chien-Chung Chen, Robert B Boxer, et al. · Breast Cancer Research · 49
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Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study
2020 · Lisa M. Ballard, Rachel H. Horton, et al. · European Journal of Human Genetics · 47
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Challenges of using whole genome sequencing in population newborn screening
2024 · Rachel Horton, Caroline F Wright, et al. · BMJ · 36
Ethical Considerations in Research with Genomic Data
2022 · Rachel Horton, Anneke Lucassen · The New Bioethics · 35
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The ethical challenges of diversifying genomic data: A qualitative evidence synthesis
2023 · Faranak Hardcastle, Kate Lyle, et al. · Cambridge Prisms Precision Medicine · 31
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
2019 · Allan Bayat, Alexej Knaus, et al. · Genetics in Medicine · 28
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Genome sequencing in healthcare: understanding the UK general public’s views and implications for clinical practice
2019 · Lisa M. Ballard, Rachel H. Horton, et al. · European Journal of Human Genetics · 24
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HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
2019 · Deepika D'Cunha Burkardt, Anna Zachariou, et al. · American Journal of Medical Genetics Part A · 22
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Direct-to-consumer genetic testing with third party interpretation: beware of spurious results
2019 · Rachel Horton, Gillian Crawford, et al. · Emerging Topics in Life Sciences · 20
Differential methylation persists at the mouseRasgrf1DMR in tissues displaying monoallelic and biallelic expression
2009 · Lauren Dockery, Jennifer Gerfen, et al. · Epigenetics · 18
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Ethical issues raised by new genomic technologies: the case study of newborn genome screening
2022 · Rachel Horton, Anneke Lucassen · Cambridge Prisms Precision Medicine · 17
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What is the meaning of a ‘genomic result’ in the context of pregnancy?
2020 · Shiri Shkedi-Rafid, Rachel Horton, et al. · European Journal of Human Genetics · 14
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Is it acceptable to contact an anonymous egg donor to facilitate diagnostic genetic testing for the donor-conceived child?
2019 · Rachel Horton, Benjamin Bell, et al. · Journal of Medical Ethics · 14
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Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice
2023 · Melody Grace Redman, Rachel Helen Horton, et al. · Journal of Medical Genetics · 12
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Immortal data: a qualitative exploration of patients’ understandings of genomic data
2023 · Kate Lyle, Susie Weller, et al. · European Journal of Human Genetics · 11
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Genomics and insurance in the United Kingdom: increasing complexity and emerging challenges
2024 · Padraig Dixon, Rachel H. Horton, et al. · Health Economics Policy and Law · 10
Genomic testing in healthcare: a hybrid space where clinical practice and research need to co-exist
2019 · Rachel Horton, Anneke Lucassen · Expert Review of Molecular Diagnostics · 10
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Unpacking the Concept of a Genomic Result
2019 · Rachel Horton, Anneke Lucassen, et al. · The American Journal of Bioethics · 8
Works count: 58
Citation count: 1,512
H-index: 17
I10-index: 24
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