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Genetics

D-Index
70
Citations
20607
World Ranking
2258
National Ranking
283

Overview

Sue Povey is affiliated with University College London in the United Kingdom. Their work spans several interconnected fields within the biological sciences, focusing primarily on Biochemistry, Genetics and Molecular Biology, as well as Neuroscience.

The primary areas of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Neuroscience

Within these broader fields, Sue Povey has contributed to specific subfields such as Molecular Biology, Clinical Biochemistry, and Cellular and Molecular Neuroscience. This indicates a focus on the biochemical and molecular mechanisms underlying cellular function and neurological processes.

The main research topics covered by Sue Povey include:

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • Genetic Neurodegenerative Diseases

The emphasis on mitochondrial function and associated pathologies suggests work on the cellular energy processes and their implications for disease. Their research into metabolism and genetic disorders aligns with investigating inherited conditions that affect biochemical pathways. Additionally, the focus on genetic neurodegenerative diseases indicates involvement in understanding the molecular bases of neurological disorders with genetic origins.

Best Publications

  • Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

    Marjon van Slegtenhorst;Ronald de Hoogt;Caroline Hermans;Mark Nellist

  • Gene map of the extended human MHC

    Roger Horton;Laurens Wilming;Vikki Rand;Ruth C. Lovering

  • Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies

    Xavier Michalet;Rosemary Ekong;Françoise Fougerousse;Sophie Rousseaux

  • The Gene Ontology project in 2008

    Midori A Harris;Jennifer I. Deegan;Amelia Ireland;Jane Lomax

  • Characterization of a panel of highly variable minisatellites cloned from human DNA.

    Z. Wong;V. Wilson;I. Patel;S. Povey

  • EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9

    A.E Fryer;J.M Connor;S Povey;J.R.W Yates

  • The HUGO Gene Nomenclature Committee (HGNC)

    Sue Povey;Ruth Lovering;Elspeth Bruford;Mathew Wright

  • Guidelines for human gene nomenclature.

    Hester M. Wain;Elspeth A. Bruford;Ruth C. Lovering;Michael J. Lush

  • Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

    L. J. Bruce;D. L. Cope;G. K. Jones;A. E. Schofield

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Jie Huang;Bryan Howie;Shane McCarthy;Yasin Memari

  • Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

    S. Povey;M. W. Burley;J. Attwood;F. Benham

  • Inherited variations in human phosphohexose isomerase.

    James C. Detter;Peter O. Ways;Eloise R. Giblett;Marjorie A. Baughan

  • Genew: the Human Gene Nomenclature Database

    Hester M. Wain;Michael J. Lush;Fabrice Ducluzeau;Sue Povey

  • The HUGO Gene Nomenclature Database, 2006 updates

    Tina A. Eyre;Fabrice Ducluzeau;Tam P. Sneddon;Sue Povey

  • The HGNC Database in 2008: a resource for the human genome

    Elspeth A. Bruford;Michael J. Lush;Mathew W. Wright;Tam P. Sneddon

  • Genetic studies on hydatidiform moles. I. The origin of partial moles.

    Sylvia D. Lawler;Sylvia D. Lawler;Rosemary A. Fisher;Rosemary A. Fisher;Veronica J. Pickthall;Veronica J. Pickthall;Susan Povey;Susan Povey

  • Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen.

    A Neil Turner;P J Mason;R Brown;M Fox

  • Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome.

    P. Goodfellow;G. Banting;D. Sheer;H. H. Ropers

  • Systematic cloning of human minisatellites from ordered array charomid libraries.

    John A.L. Armour;Sue Povey;Stephen Jeremiah;Alec J. Jeffreys

Frequent Co-Authors

Elspeth A. Bruford
Elspeth A. Bruford University of Cambridge
Michèle Ramsay
Michèle Ramsay University of the Witwatersrand
Trefor Jenkins
Trefor Jenkins University of the Witwatersrand
Johan T. den Dunnen
Johan T. den Dunnen Leiden University Medical Center
Julian Roy Sampson
Julian Roy Sampson Cardiff University
Dicky J. J. Halley
Dicky J. J. Halley Erasmus University Rotterdam
David J. Kwiatkowski
David J. Kwiatkowski Brigham and Women's Hospital
Shomi S. Bhattacharya
Shomi S. Bhattacharya University College London
Paul Flicek
Paul Flicek The Jackson Laboratory
David J. Porteous
David J. Porteous University of Edinburgh

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