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Genetics

D-Index
64
Citations
12685
World Ranking
2809
National Ranking
353

Overview

Gudrun E. Moore is affiliated with University College London in the United Kingdom. Their research activity spans multiple areas of biochemistry, genetics, molecular biology, and medicine, with a particular focus on genetics and pediatric health.

Their main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these broader fields, the notable subfields of study that characterize their work are:

  • Molecular Biology
  • Genetics
  • Pediatrics, Perinatology and Child Health
  • Surgery
  • Cellular and Molecular Neuroscience

The primary topics covered in their research include:

  • Genetic Syndromes and Imprinting
  • Prenatal Screening and Diagnostics
  • Epigenetics and DNA Methylation
  • Congenital heart defects research
  • Renal and related cancers
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Circular RNAs in diseases

Moore's publication record features papers in established journals and platforms, including:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of Medical Genetics
  • Frontiers in Endocrinology
  • Scientific Reports
  • Nucleic Acids Research

Recent papers authored or co-authored by Moore include:

  • Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood, 2020, Journal of Medical Genetics
  • Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome, 2022, Frontiers in Endocrinology
  • Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations, 2020, Scientific Reports
  • Analysis of CDKN1C in fetal growth restriction and pregnancy loss, 2020, F1000Research
  • Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo, 2022, Nucleic Acids Research

Frequent collaborators in Moore's body of work include:

  • Miho Ishida
  • Jenifer P. Suntharalingham
  • Ignacio del Valle
  • Nita Solanky
  • John C. Achermann

Best Publications

  • Maternal activating KIRs protect against human reproductive failure mediated by fetal HLA-C2

    Susan E. Hiby;Richard Apps;Andrew M. Sharkey;Lydia E. Farrell

  • Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts

    Philip Stanier;Gudrun E. Moore

  • 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

  • The primate-specific microRNA gene cluster (C19MC) is imprinted in the placenta

    Marie Noguer-Dance;Marie Noguer-Dance;Sayeda Abu-Amero;Mohamed Al-Khtib;Annick Lefèvre

  • The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

    Claire Braybrook;Kit Doudney;Ana Carolina B. Marçano;Alfred Arnason

  • The importance of imprinting in the human placenta.

    Jennifer M. Frost;Gudrun E. Moore

  • Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

    Veronica A Kinsler;Anna C Thomas;Miho Ishida;Neil W Bulstrode

  • Limited evolutionary conservation of imprinting in the human placenta

    D. Monk;P. Arnaud;S. Apostolidou;F. A. Hills

  • Functional Variants of the Central Bile Acid Sensor FXR Identified in Intrahepatic Cholestasis of Pregnancy

    Saskia W.C. van Mil;Alexandra Milona;Peter H. Dixon;Roman Mullenbach

  • Human Chromosome 7: DNA Sequence and Biology

    Stephen W. Scherer;Joseph Cheung;Jeffrey R. MacDonald;Lucy R. Osborne

  • Contribution of Variant Alleles of ABCB11 to Susceptibility to Intrahepatic Cholestasis of Pregnancy.

    P H Dixon;S W C van Mil;J Chambers;S Strautnieks

  • Routine addition of human insulin-like growth factor-I ligand could benefit clinical in-vitro fertilization culture

    A. D. Lighten;G. E. Moore;R. M. L. Winston;K. Hardy

  • The role of imprinted genes in humans.

    Miho Ishida;Gudrun E. Moore

  • The genetic aetiology of Silver–Russell syndrome

    Sayeda Abu-Amero;David Monk;Jennifer Frost;Michael Preece

  • An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype

    Adele Murrell;Sarah Heeson;Wendy N. Cooper;Eleanor J. Douglas

  • TBX22 mutations are a frequent cause of cleft palate

    A C B Marçano;K Doudney;C Braybrook;R Squires

  • Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight

    S. Apostolidou;S. Abu-Amero;K. O’Donoghue;J. Frost

  • Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach

    Dafni Moschidou;Sayandip Mukherjee;Michael P Blundell;Katharina Drews

  • Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

    David Monk;David Monk;Emma L Wakeling;Emma L Wakeling;Virginia Proud;Megan Hitchins

  • Epigenotype–phenotype correlations in Silver–Russell syndrome

    EL Wakeling;S Abu Amero;M Alders;J Bliek

Frequent Co-Authors

Philip Stanier
Philip Stanier University College London
Phillip R. Bennett
Phillip R. Bennett Imperial College London
Neil J. Sebire
Neil J. Sebire Great Ormond Street Hospital
Eugene Healy
Eugene Healy University of Southampton
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Kazuhiko Nakabayashi
Kazuhiko Nakabayashi National Center For Child Health and Development
Andrew J. Copp
Andrew J. Copp University College London
Robert Newton
Robert Newton University of Calgary
robert feil
robert feil Centre national de la recherche scientifique, CNRS
Robert Williamson
Robert Williamson University of Melbourne

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