Josephine Hill

Biochemistry, Genetics and Molecular Biology · Life Sciences

6h-index2.3kcitations12works0.02yr avg
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Research Topics

Genetic and Kidney Cyst Diseases(6), Genetic Syndromes and Imprinting(5), Parkinson's Disease Mechanisms and Treatments(3), Health, Medicine and Society(3), Hermeneutics and Narrative Identity(3)

Publications12 total

Expression of Concern: Molecular motors implicated in the axonal transport of tau and α-synuclein
Journal of Cell Science·2024Open Access
The Clinical, Molecular, and Functional Genetics of Bardet-Biedl Syndrome
Oxford University Press eBooks·2009· 4 cited
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
Nature Genetics·2007· 335 cited
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (vol 37, pg 1135, 2005)
UCL Discovery (University College London)·2005· 2 cited
Erratum: Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
Nature Genetics·2005· 6 cited
Molecular motors implicated in the axonal transport of tau and α-synuclein
Journal of Cell Science·2005· 156 cited
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
Nature Genetics·2005· 548 cited
The familial obesity protein BBS4 targets PCM1 to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
UCL Discovery (University College London)·2004
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
Nature Genetics·2004· 394 citedOpen Access
Parkinson's disease α-synuclein mutations exhibit defective axonal transport in cultured neurons
Journal of Cell Science·2004· 172 cited
Basal body dysfunction likely underlies the pleiotropic phenotype of Bardet-Biedl syndrome.
UCL Discovery (University College London)·2003
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
Nature·2003· 686 cited

Frequent Co-authors

Nicholas Katsanis(7), Alison Ross(6), Philip L. Beales(6), Carmen C. Leitch(5), Michel R. Leroux(5), José L. Badano(4), Masazumi Tada(4), Stephen J. Ansley(3), Bethan E. Hoskins(3), Erica R. Eichers(3), Helen May‐Simera(3), J. Paul Chapple(3), Shannon Fisher(3), Helen M. Phillips(3), Deborah J. Henderson(3), Andrew J. Copp(3), Hélène Dollfus(3), Andrew Forge(3), Michelle A. Utton(3), Brian H. Anderton(3)