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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
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
Dr Rob Geraghty
Dr Eric Olinger
Professor John Sayer
Whole exome sequencing of large populations: identification of loss of function alleles and implications for inherited kidney diseases2021
Professor John Sayer
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series2020
Sumaya Alkanderi
Professor John Sayer
Biallelic CYP24A1 variants presenting during pregnancy: Clinical and biochemical phenotypes2020
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