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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
George Cairns
Dr Florence Burte
Emily O'Connor
Dr Angela Pyle
Professor John Sayer
et al.
A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay2021
Laura Powell
Professor John Sayer
ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses2021
Becky Dewhurst
Dr Elisa Molinari
Professor John Sayer
Cell preservation methods and its application to studying rare disease2021
Dr Elisa Molinari
Professor John Sayer
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases2021
Laura Powell
Dr Eric Olinger
Dr Sarah Rice
Miguel Barroso Gil
Ian Wilson
et al.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome2021
Miguel Barroso Gil
Dr Eric Olinger
Professor John Sayer
Molecular genetics of renal ciliopathies2021
Mohamed Al-Hamed
Professor John Sayer
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families2021
Intisar Al Alawi
Miguel Barroso Gil
Laura Powell
Dr Eric Olinger
Professor John Sayer
et al.
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients2021
Miguel Barroso Gil
Dr Eric Olinger
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Colin Miles
et al.
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies2021
Professor Rita Horvath
Dr Wei Wei
Dr Robert Pitceathly
Professor Michael Hanna
Professor John Sayer
et al.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: Cohort study2021
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