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Genetics

D-Index
53
Citations
8107
World Ranking
3743
National Ranking
437

Overview

Alison J. Hardcastle is affiliated with University College London in the United Kingdom. Their research is concentrated primarily in the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with specific attention to subfields such as Ophthalmology, Molecular Biology, Radiology, Nuclear Medicine and Imaging, Genetics, and Pathology and Forensic Medicine.

Their work covers a range of topics including:

  • Glaucoma and retinal disorders
  • Retinal Diseases and Treatments
  • Retinal Development and Disorders
  • Corneal surgery and disorders
  • Retinal Imaging and Analysis
  • Corneal Surgery and Treatments
  • RNA regulation and disease

Recent publications authored or co-authored by Hardcastle include the following:

  • A foundation model for generalizable disease detection from retinal images, 2023, Nature
  • Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids, 2020, Stem Cell Reports
  • Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa, 2020, The American Journal of Human Genetics
  • A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus, 2021, Communications Biology
  • Retinal Optical Coherence Tomography Features Associated With Incident and Prevalent Parkinson Disease, 2023, Neurology

Their frequent co-authors include:

  • Paul J. Foster
  • Nikolas Pontikos
  • Anthony P. Khawaja
  • Pirro G. Hysi
  • Cathy Williams

Hardcastle has published multiple works in notable venues such as bioRxiv (Cold Spring Harbor Laboratory), The American Journal of Human Genetics, JAMA Ophthalmology, Ophthalmology, and Communications Biology.

Best Publications

  • The pathogenesis of keratoconus

    A. E. Davidson;Sally Hayes;A. J. Hardcastle;S. J. Tuft

  • The cone dysfunction syndromes

    Jonathan Aboshiha;Adam M Dubis;Joseph Carroll;Alison J Hardcastle

  • Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

    David A. Parfitt;Amelia Lane;Conor M. Ramsden;Conor M. Ramsden;Amanda Jayne F Carr

  • The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

    Carsten M. Pusch;Christina Zeitz;Oliver Brandau;Katrin Pesch

  • Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis

    Michel Michaelides;Michel Michaelides;Alison J. Hardcastle;David M. Hunt;Anthony T. Moore;Anthony T. Moore

  • The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

    R. Jane Evans;Nele Schwarz;Kerstin Nagel-Wolfrum;Uwe Wolfrum

  • Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

    Tom R. Webb;David A. Parfitt;Jessica C. Gardner;Ariadna Martinez

  • Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

    Celene Grayson;Francesca Bartolini;J. Paul Chapple;Keith R. Willison

  • RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

    I Zito;S M Downes;R J Patel;M E Cheetham

  • Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

    Alison J. Hardcastle;Dawn L. Thiselton;Lionel Van Maldergem;Bratin K. Saha

  • Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

    A Hameed;A Abid;A Aziz;M Ismail

  • Unfolding retinal dystrophies: a role for molecular chaperones?

    J.Paul Chapple;Celene Grayson;Alison J. Hardcastle;Richard S. Saliba

  • Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.

    Amelia Lane;Katarina Jovanovic;Ciara Shortall;Daniele Ottaviani

  • An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.

    Dawn L. Thiselton;Jennifer McDowall;Jennifer McDowall;Jennifer McDowall;Oliver Brandau;Juliane Ramser;Juliane Ramser;Juliane Ramser

  • Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

    G Arno;SA Agrawal;A Eblimit;J Bellingham

  • Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

    JP Chapple;AJ Hardcastle;C Grayson;LA Spackman

  • Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

    Neil D. Ebenezer;Michel Michaelides;Sharon A. Jenkins;Isabelle Audo

  • Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

    Samantha Johnson;Stephanie Halford;Alex G Morris;Reshma J Patel

  • Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.

    Artur V. Cideciyan;Robert B. Hufnagel;Joseph Carroll;Alexander Sumaroka

  • Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

    Nele Schwarz;Amanda-Jayne Carr;Amelia Lane;Fabian Moeller

Frequent Co-Authors

Michael E. Cheetham
Michael E. Cheetham University College London
Anthony T. Moore
Anthony T. Moore University of California, San Francisco
Shomi S. Bhattacharya
Shomi S. Bhattacharya University College London
Andrew R. Webster
Andrew R. Webster University College London
Vincent Plagnol
Vincent Plagnol University College London
Graham E. Holder
Graham E. Holder University College London
Pirro G. Hysi
Pirro G. Hysi King's College London
Chris F. Inglehearn
Chris F. Inglehearn University of Leeds
Keith R. Willison
Keith R. Willison Imperial College London
Eamonn R. Maher
Eamonn R. Maher University of Cambridge

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