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Author Details

Jane A Hurst
Great Ormond Street Hospital NHS Foundation Trust
1987
118
44
PMIDPaper TitleJournal TitlePublished Year
36792598Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.Nat Commun2023
32897901When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.Clin Dysmorphol2021
33674768Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.Genet Med2021
33980485Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.Sci Adv2021
34056100Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.Neurol Genet2021
33345357Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.Clin Endocrinol (Oxf)2021
31605816Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management.Eur J Med Genet2020
32047287Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.Genet Med2020
31895055Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.Clin Dysmorphol2020
32710489Genotype-phenotype correlation at codon 1740 of SETD2.Am J Med Genet A2020
32196547Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.Hum Mol Genet2020
30622331Duplication of 10q24 locus: broadening the clinical and radiological spectrum.Eur J Hum Genet2019
31504653Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.J Clin Endocrinol Metab2019
31137009Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein-Taybi syndrome.Eur J Endocrinol2019
30879005Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.Horm Res Paediatr2019
30653986The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.Ophthalmology2019
29740699De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Hum Genet2018
30049826Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.J Med Genet2018
27576021Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.Clin Dysmorphol2017
28414293Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.J Clin Invest2017
28225384STAR syndrome: a further case and the first report of maternal mosaicism.Clin Dysmorphol2017
28327570PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.Eur J Hum Genet2017
29100083High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Am J Hum Genet2017
28905882Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.Eur J Hum Genet2017
28546572Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.Nat Genet2017
28920961Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.Nat Genet2017
28053047Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Hum Mol Genet2017
27789416Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.Bone2017
28041643Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet2017
27992417Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.Nat Genet2017
27884935Diagnostic value of exome and whole genome sequencing in craniosynostosis.J Med Genet2017
27029630Delineation of the movement disorders associated with FOXG1 mutations.Neurology2016
26297558ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.Brain2016
27453576BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.Am J Hum Genet2016
27465822Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.Clin Dysmorphol2016
26993267Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.J Med Genet2016
24736733The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.Eur J Hum Genet2015
25604898A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.Am J Med Genet A2015
25118028Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.Eur J Hum Genet2015
24217912The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.Nucleic Acids Res2014
25439728Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.Am J Hum Genet2014
25007883A new acro-osteolysis syndrome caused by duplications including PTHLH.J Hum Genet2014
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
24726473Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Am J Hum Genet2014
24300289The postnatal features of bent bone dysplasia-FGFR2 type.Clin Dysmorphol2014
23401257Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Am J Med Genet A2013
24270507Policy challenges of clinical genome sequencing.BMJ2013
23621943The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.Orphanet J Rare Dis2013
22797553Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.Clin Dysmorphol2012
23165645Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.Am J Med Genet A2012
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Collaborators

NIHR Oxford Biomedical Research Centre
Co-authored papers 18
Great Ormond Street Hospital
Co-authored papers 12
St George's University Hospitals NHS Foundation Trust
Co-authored papers 7
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 7
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Co-authored papers 7
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Co-authored papers 6
Radboud University Medical Center
Co-authored papers 6
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 5
UCL Great Ormond Street Institute of Child Health Library
Co-authored papers 5
Cincinnati Children's Hospital Medical Center
Co-authored papers 5
Oxford University Hospitals NHS Foundation Trust, Churchill Hospital
Co-authored papers 5
Maastricht University Medical Centre
Co-authored papers 4
Great Ormond Street Hospital for Children NHS Foundation Trust
Co-authored papers 4
Cardiff University
Co-authored papers 4
University College Dublin
Co-authored papers 4
University of Washington
Co-authored papers 3
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UCL Queen Square Institute of Neurology
Co-authored papers 3
Institute of Neurology, University College London (UCL)
Co-authored papers 3
UCL Institute of Neurology
Co-authored papers 3
Istanbul University
Co-authored papers 3
University of Exeter, Royal Devon and Exeter Hospital
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Guy's Hospital
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HudsonAlpha Institute for Biotechnology
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Cambridge University Hospital, NHS Foundation Trust
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