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Author Details

Isabel K Temple
University of Southampton
1988
219
60
PMIDPaper TitleJournal TitlePublished Year
37850521A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.Am J Med Genet A2024
36728278A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome - a Case Report.J Clin Res Pediatr Endocrinol2023
34135092Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.J Med Genet2022
35522427Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.Mol Diagn Ther2022
36345041First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clin Epigenetics2022
35266280A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.Am J Med Genet A2022
35296332Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.Clin Epigenetics2022
35261046Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.Clin Endocrinol (Oxf)2022
33338304Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.Am J Med Genet A2021
33741574Experiences of adolescents living with Silver-Russell syndrome.Arch Dis Child2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34480472Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.Clin Dysmorphol2021
30829192Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.Genet Res (Camb)2019
29954740Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood.Arch Dis Child2019
30087161Genetics, molar pregnancies and medieval ideas of monstrous births: the lump of flesh in <i>The King of Tars</i>.Med Humanit2019
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
29276005Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.Am J Hum Genet2018
29900417The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants.Wellcome Open Res2018
30836360Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.Horm Res Paediatr2018
30613354Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.Oncotarget2018
29574422Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.J Med Genet2018
27363536Recent Advances in Imprinting Disorders.Clin Genet2017
28475857Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.Am J Hum Genet2017
28327575Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Eur J Hum Genet2017
29237676Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With <i>FLNA</i>.Circ Cardiovasc Genet2017
28566443Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.Eur J Endocrinol2017
28818477Human imprinting disorders: Principles, practice, problems and progress.Eur J Med Genet2017
27585961Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Nat Rev Endocrinol2017
27075368Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.BMC Med Genet2016
26248010Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.Genet Med2016
26508573Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.Eur J Hum Genet2016
26507355Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Hum Mutat2016
26395259Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.Am J Med Genet A2016
27124303Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.PLoS One2016
27236920A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Am J Hum Genet2016
27540106Prematurity and Genetic Testing for Neonatal Diabetes.Pediatrics2016
26958095Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.Clin Epigenetics2016
27108798A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Am J Hum Genet2016
25005734Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.Eur J Hum Genet2015
26323243Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.Nat Commun2015
26583054Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.Clin Epigenetics2015
26208381Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.J Pediatr Endocrinol Metab2015
26231457The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.Lancet2015
25918558A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.Clin Epigenetics2015
25888713Pallister-Killian syndrome: a study of 22 British patients.J Med Genet2015
25998302Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion.Diabetes Care2015
25784961Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.Clin Epigenetics2015
25572454Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.Am J Med Genet A2015
25352235Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.J Endocrinol Invest2015
23820480Clinical utility gene card for: Beckwith-Wiedemann Syndrome.Eur J Hum Genet2014
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Collaborators

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Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
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University of Exeter Medical School, Royal Devon & Exeter Hospital
Co-authored papers 5
St George's University Hospitals NHS Foundation Trust
Co-authored papers 5
Maastricht University Medical Centre
Co-authored papers 4
NIHR Oxford Biomedical Research Centre
Co-authored papers 4
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Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 4
Institute of Medical and Molecular Genetics
Co-authored papers 4
Guy's and St Thomas Hospital
Co-authored papers 4
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 4
Belfast City Hospital
Co-authored papers 4
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Co-authored papers 3
Queen Mary University of London, United Kingdom Society and Ethics Research
Co-authored papers 3
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Clinical Ethics, University of Oxford
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King AbdulAziz University
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Children's Hospital of Eastern Ontario
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Cambridge University Hospitals NHS Foundation Trust
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Children's Hospital of Philadelphia
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Western General Hospital
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