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Rachel Horton

Princess Anne Hospital

8

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220

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Ectopic vortex veins and varices in Donnai Barrow syndrome.

2021 Ophthalmic Genetics
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Consent and Autonomy in the Genomics Era

2019 Current Genetic Medicine Reports
- Rachel Horton
- Anneke Lucassen
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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

2019 Genetics in Medicine
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Extending non-invasive prenatal testing to non-invasive prenatal diagnosis

2019 Archives of Disease in Childhood
- Rachel Horton
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Quantifying the contribution of recessive coding variation to developmental disorders.

2018 Science
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

2018 American Journal of Human Genetics
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Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles

2017 bioRxiv
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