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Fiona Stewart

Belfast City Hospital

86

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2825

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NAA10 polyadenylation signal variants cause syndromic microphthalmia

2019 Journal of Medical Genetics
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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 American Journal of Medical Genetics Part A
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BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

2018 Nature Genetics
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Presenting signs and symptoms of MPS: Results of a systematic literature analysis

2018 Molecular Genetics and Metabolism
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Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre’s experience

2018 Childs Nervous System
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Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study

2017 Molecular Genetics and Metabolism
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

2017 Human Genetics
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The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

2017 Molecular genetics and metabolism reports
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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

2017 Genetics in Medicine
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Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

2017 American Journal of Human Genetics
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Citations (94)