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Elizabeth M. C. Fisher

Elizabeth M. C. Fisher

D-Index & Metrics

Genetics

D-Index
83
Citations
32419
World Ranking
1402
National Ranking
182

Overview

Elizabeth M. C. Fisher is affiliated with University College London in the United Kingdom. Their research spans multiple fields of study, predominantly focusing on Medicine and Biochemistry, Genetics and Molecular Biology. Within these main disciplines, their work frequently addresses subfields such as Molecular Biology, Genetics, Neurology, Public Health, Environmental and Occupational Health, and Physiology.

Their primary research topics include Amyotrophic Lateral Sclerosis Research, Down syndrome and intellectual disability research, Genetics and Neurodevelopmental Disorders, Alzheimer's disease research and treatments, Neurogenetic and Muscular Disorders Research, Prion Diseases and Protein Misfolding, as well as RNA Research and Splicing.

Elizabeth M. C. Fisher has contributed to several recent publications, with notable papers including:

  • TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A (2022), published in Nature
  • Species-specific pace of development is associated with differences in protein stability (2020), published in Science
  • Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia (2020), published in Journal of Clinical Investigation
  • Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (2020), published in Molecular Psychiatry
  • FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention (2020), published in Nucleic Acids Research

The most frequent publication venues for their work include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Alzheimer s & Dementia
  • Faculty Opinions - Post-Publication Peer Review of the Biomedical Literature
  • Journal of Investigative Dermatology
  • Disease Models & Mechanisms

Elizabeth M. C. Fisher collaborates regularly with several co-authors, among them:

  • Victor L. J. Tybulewicz
  • Frances K. Wiseman
  • Thomas J. Cunningham
  • Karen Cleverley
  • Paige Mumford

Best Publications

  • Genealogies of mouse inbred strains.

    Jon A. Beck;Sarah Lloyd;Majid Hafezparast;Moyha Lennon-Pierce

  • The sex-determining region of the human Y chromosome encodes a finger protein

    David C. Page;Rebecca Mosher;Elizabeth M. Simpson;Elizabeth M.C. Fisher

  • Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

    Gaia Skibinski;Nicholas J Parkinson;Jeremy M Brown;Lisa Chakrabarti;Lisa Chakrabarti

  • Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

    Derek C. Rogers;E.M.C. Fisher;S.D.M. Brown;J. Peters

  • Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport

    Majid Hafezparast;Rainer Klocke;Christiana Ruhrberg;Andreas Marquardt

  • C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.

    Sarah Mizielinska;Sebastian Grönke;Teresa Niccoli;Charlotte E. Ridler

  • A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.

    P M Nolan;J Peters;M Strivens;D Rogers

  • Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse.

    John A. Curtin;Elizabeth Quint;Vicky Tsipouri;Ruth M. Arkell

  • Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease

    Maria Filimonenko;Susanne Stuffers;Camilla Raiborg;Ai Yamamoto

  • A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

    Frances K. Wiseman;Tamara Al-Janabi;John Hardy;Annette Karmiloff-Smith

  • A genome-wide investigation of SNPs and CNVs in schizophrenia

    Anna C. Need;Dongliang Ge;Michael E. Weale;Jessica Maia

  • An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

    Aideen O'Doherty;Sandra Ruf;Sandra Ruf;Claire Mulligan;Victoria Hildreth

  • Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome.

    Elizabeth M.C. Fisher;Peggy Beer-Romero;Laura G. Brown;Anne Ridley

  • ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

    N. Parkinson;P. G. Ince;M. O. Smith;R. Highley

  • Molecular mapping of alzheimer-type dementia in Down's syndrome

    V. P. Prasher;Matthew J. Farrer;Anna M. Kessling;Elizabeth M. C. Fisher

  • Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.

    Simon Mead;Michael P. H. Stumpf;Jerome Whitfield;Jonathan A. Beck

  • The origins and uses of mouse outbred stocks.

    Ruth Chia;Francesca Achilli;Michael F W Festing;Elizabeth M C Fisher

  • C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

    Pietro Fratta;Sarah Mizielinska;Andrew J. Nicoll;Mire Zloh

  • Genetic analysis of the cytoplasmic dynein subunit families

    K. Kevin Pfister;Paresh R Shah;Holger Hummerich;Andreas P. Russ

  • Down syndrome—recent progress and future prospects

    Frances K. Wiseman;Kate A. Alford;Victor L.J. Tybulewicz;Elizabeth M.C. Fisher

Frequent Co-Authors

Victor L. J. Tybulewicz
Victor L. J. Tybulewicz The Francis Crick Institute
Giampietro Schiavo
Giampietro Schiavo University College London
John Collinge
John Collinge University College London
R.C.A. Thompson
R.C.A. Thompson Murdoch University
Sebastian Brandner
Sebastian Brandner University College London
Vincent Plagnol
Vincent Plagnol University College London
John Hardy
John Hardy University College London
Nicholas Katsanis
Nicholas Katsanis Galatea Bio Inc
Marc Modat
Marc Modat King's College London

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