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61
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Overview

I. Karen Temple is affiliated with the University of Southampton in the United Kingdom. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a focused contribution to Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Pathology and Forensic Medicine, as well as Oncology.

Their work addresses several main topics, including:

  • Genetic Syndromes and Imprinting
  • Epigenetics and DNA Methylation
  • Prenatal Screening and Diagnostics
  • Genomic Variations and Chromosomal Abnormalities
  • RNA Modifications and Cancer
  • Tumors and Oncological Cases
  • Kruppel-like Factors Research

They have published extensively, with notable papers including:

  • "DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes" (2020, The American Journal of Human Genetics)
  • "Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences" (2022, Clinical Epigenetics)
  • "Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans" (2021, Nature Communications)
  • "First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders" (2022, Clinical Epigenetics)
  • "Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood" (2020, Journal of Medical Genetics)

Frequent co-authors collaborating with I. Karen Temple include:

  • Deborah Mackay
  • Justin H. Davies
  • Irène Netchine
  • Oluwakemi Lokulo-Sodipe
  • Jenny Child

Key publication venues for their work highlight recurring contributions to:

  • Clinical Epigenetics
  • American Journal of Medical Genetics Part A
  • Journal of Medical Genetics
  • American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • The American Journal of Human Genetics

Best Publications

  • Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

    Anna L Gloyn;Ewan R. Pearson;Jennifer F. Antcliff;Peter Proks

  • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

    Deborah J G Mackay;Deborah J G Mackay;Jonathan L A Callaway;Jonathan L A Callaway;Sophie M Marks;Helen E White

  • Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

    Sabina Benko;Judy A. Fantes;Jeanne Amiel;Dirk Jan Kleinjan

  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    J Kaplanis;K E Samocha;L Wiel;Z Zhang

  • Diagnosis and management of Silver–Russell syndrome: first international consensus statement

    Emma L. Wakeling;Frédéric Brioude;Frédéric Brioude;Oluwakemi Lokulo-Sodipe;Oluwakemi Lokulo-Sodipe;Susan M. O'Connell

  • Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases

    Margaret Elliott;Rosemary Bayly;Trevor Cole;I. Karen Temple

  • Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

    Katrina Tatton-Brown;Jenny Douglas;Kim Coleman;Geneviève Baujat

  • Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

    Katrina Tatton-Brown;Sheila Seal;Elise Ruark;Jenny Harmer

  • The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

    Elisa De Franco;Sarah E Flanagan;Jayne A L Houghton;Hana Lango Allen

  • NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

    Jenny Douglas;Sandra Hanks;I. Karen Temple;Sally Davies

  • 3D analysis of facial morphology

    Peter Hammond;Tim J. Hutton;Judith E. Allanson;Linda E. Campbell

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

    Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  • Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    Louise S Bicknell;Ernie M H F Bongers;Andrea Leitch;Stephen Brown

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • An imprinted locus associated with transient neonatal diabetes mellitus

    Rebecca J. Gardner;Deborah J.G. Mackay;Andrew J. Mungall;Constantin Polychronakos

  • Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

    Jet Bliek;Gaetano Verde;Jonathan Callaway;Jonathan Callaway;Saskia M Maas

  • Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

    Gijs W E Santen;Emmelien Aten;Anneke T. Vulto-van Silfhout;Caroline Pottinger

  • Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

    Yiannis Ioannides;Kemi Lokulo-Sodipe;Kemi Lokulo-Sodipe;Deborah J G Mackay;Deborah J G Mackay;Justin H Davies;Justin H Davies

  • Relapsing diabetes can result from moderately activating mutations in KCNJ11.

    Anna L. Gloyn;Frank Reimann;Christophe Girard;Emma L. Edghill

  • Discriminating power of localized three-dimensional facial morphology

    Peter Hammond;Tim J. Hutton;Judith E. Allanson;Bernard Buxton

Frequent Co-Authors

Deborah J.G. Mackay
Deborah J.G. Mackay University of Southampton
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
Nazneen Rahman
Nazneen Rahman Institute of Cancer Research
Sian Ellard
Sian Ellard University of Exeter
Diana Baralle
Diana Baralle University of Southampton
Frances Flinter
Frances Flinter Guy's and St Thomas' NHS Foundation Trust
Bronwyn Kerr
Bronwyn Kerr University of Manchester
Michael A. Patton
Michael A. Patton St George's, University of London
John A. Crolla
John A. Crolla Salisbury District Hospital
Thomas Eggermann
Thomas Eggermann RWTH Aachen University

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