David A. Parfitt - Concepedia

Author

David A. Parfitt

University College London ORCID

Also Known As

D A Parfitt, D. A. Parfitt, D. PARFITT, D. Parfitt, David A Parfitt, David A. Parfitt, David Parfitt, David A. Parfitt

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

University College London Cardiff University Queen Mary University of London Moorfields Eye Hospital NHS Foundation Trust William Harvey Research Institute

About

David A. Parfitt is an author at University College London specializing in medicine, natural sciences, and cell biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	614
2	Natural Sciences	9	9	645
3	Engineering	4	4	125
4	Biology	4	4	300
5	Social Sciences	1	1	39

David A. Parfitt

Publications

Citations

H-Index

Page 1

	Year	Citations
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups David A. Parfitt, Amelia Lane, Conor M. Ramsden, Cell stem cell	2016	297
Do all trees carry the seeds of their own destruction? PCR reveals numerous wood decay fungi latently present in sapwood of a wide range of angiosperm trees David A. Parfitt, Julie Hunt, David H. Dockrell, Fungal ecology BiologyNumerous Wood DecayOwn DestructionBotanyAngiosperm Trees	2010	222
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1 David A. Parfitt, Gregory J. Michael, Esmeralda G. M. Vermeulen, Human Molecular Genetics	2009	192
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Martine Girard, Roxanne Larivière, David A. Parfitt, Proceedings of the National Academy of Sciences Pyramidal SpasticityNeurodegenerative DiseasesSacsin Knockout MiceMitochondrial FunctionMitochondrial Dysfunction	2012	191
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models Kalyan Dulla, Mònica Aguilà, Amelia Lane, Molecular Therapy — Nucleic Acids G Lca10 ModelsTranscriptional RegulationNatural SciencesGeneticsGene Structure	2018	162
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, J.C. Gardner, Human Molecular Genetics	2012	151
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa Gavin Arno, Smriti A. Agrawal, Aiden Eblimit, The American Journal of Human Genetics	2016	129
Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism Helen L. Storr, Barbara Kind, David A. Parfitt, Molecular Endocrinology Iron MetabolismGeneticsTriple A SyndromePathologyMolecular Biology	2009	82
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins Nele Schwarz, Amelia Lane, Katarina Jovanović, Human Molecular Genetics Protein SecretionKinesin Motor ProteinsMolecular RegulationMolecular BiologyCytoskeleton	2017	76
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease Mubeen Khan, Gavin Arno, Ana Fakin, Molecular Therapy — Nucleic Acids	2020	73

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