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Author Details

Fiona Stewart
Belfast City Hospital
1984
68
29
PMIDPaper TitleJournal TitlePublished Year
33386993PIGF deficiency causes a phenotype overlapping with DOORS syndrome.Hum Genet2021
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
31168063Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.Nat Genet2019
31400068HIST1H1E 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.Am J Med Genet A2019
30842225<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia.J Med Genet2019
29248359Impact 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.Mol Genet Metab2018
29946810Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre's experience.Childs Nerv Syst2018
29440723Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.Nat Genet2018
29379197BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.Nat Genet2018
28050600Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>.Cold Spring Harb Mol Case Stud2017
28475857Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.Am J Hum Genet2017
28327570PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.Eur J Hum Genet2017
28151491Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Genet Med2017
28283832Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Hum Genet2017
28969385Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Brain2017
28560179The factors affecting lipid profile in adult patients with Mucopolysaccharidosis.Mol Genet Metab Rep2017
26233629Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.Ophthalmology2016
27667800Clinical and genetic aspects of KBG syndrome.Am J Med Genet A2016
27631024<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.JCI Insight2016
27622143Pregnancy in patients with mucopolysaccharidosis: a case series.Mol Genet Metab Rep2016
27124303Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.PLoS One2016
27553181Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.J Inherit Metab Dis2016
27380995Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.Mol Genet Metab2016
26769062A specific mutation in TBL1XR1 causes Pierpont syndrome.J Med Genet2016
25686753Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.J Mol Med (Berl)2015
26167768An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.Nat Cell Biol2015
24291220The genetic basis of DOORS syndrome: an exome-sequencing study.Lancet Neurol2014
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
24356988A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.Genome Res2014
23354439Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.Nat Genet2013
23905890Genetic biomarkers in aortopathy.Biomark Med2013
22126750How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.Eur J Hum Genet2012
21514195Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.Mol Genet Metab2011
21834056Pierpont syndrome: a collaborative study.Am J Med Genet A2011
21549080A family with Fabry disease diagnosed by a single angiokeratoma.Dermatol Online J2011
22375083The anatomy of a chromosome.Ulster Med J2010
19079258Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.Nat Genet2009
17534375How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network.Eur J Hum Genet2007
16630736When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.Mol Genet Metab2006
16443854Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.J Med Genet2006
15959873Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).Hum Mutat2005
15940703The adult phenotype in Costello syndrome.Am J Med Genet A2005
15150787Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome.Am J Med Genet A2004
15292921Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.Eur J Hum Genet2004
14722918Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.Hum Mutat2004
12842373Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.Lancet2003
12072798Microgastria-limb reduction anomaly with total amelia.Clin Dysmorphol2002
12225002Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.Arch Dermatol2002
12127401Identification of a rare polymorphism in the human TP53 promoter.Cancer Genet Cytogenet2002
9713022Confidential inquiry into families with two siblings with cystic fibrosis.Arch Dis Child1998
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Collaborators

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 10
Western General Hospital
Co-authored papers 7
Institute of Human Development, University of Manchester
Co-authored papers 7
Cambridge University Hospital, NHS Foundation Trust
Co-authored papers 5
St George's University Hospitals NHS Foundation Trust
Co-authored papers 4
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Co-authored papers 4
University of Southampton
Co-authored papers 4
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 4
University College Dublin
Co-authored papers 3
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University of Minnesota
Co-authored papers 3
UCL Institute of Neurology
Co-authored papers 3
University of Manchester
Co-authored papers 3
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 3
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 3
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 2
Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 2
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Albert Szent-Gyorgyi Medical School, University of Szeged
Co-authored papers 2
University of Washington
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Istanbul University
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Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 2
Oxford Brookes University
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Great Ormond Street Hospital NHS Foundation Trust
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Guy's Hospital
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UCL Great Ormond Street Institute of Child Health, University College London
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Big Data Institute, University of Oxford
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Belfast City Hospital
Co-authored papers 2
Seattle Children's Hospital.
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Wellcome Sanger Institute
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